Journal of Pediatric Ophthalmology and Strabismus

Original Article Supplemental Data

Functional Vision Analysis in Patients With CHARGE Syndrome

Gilles C. Martin, MD; Matthieu P. Robert, MD, PhD; Georges Challe, MD; Nhung T. H. Trinh, PharmD, MPH; Tania Attié-Bitach, MD, PhD; Dominique Brémond-Gignac, MD, PhD; Bahram Bodaghi, MD, PhD; Véronique Abadie, MD, PhD

Abstract

Purpose:

To evaluate functional vision in patients with CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies) by using a new questionnaire entitled VISIOCHARGE.

Methods:

Ophthalmological data including fundus description and visual acuity, when available, were extracted from the charts of 83 patients with CHARGE syndrome, and the VISIOCHARGE questionnaire was prospectively mailed to 55 of those patients. The answers from the 36 responders (18 males) allowed for the calculation of three scores that assessed distance vision, near vision, and overall ability scores.

Results:

Visual acuity measurements were extracted from the charts of 20 of the 36 patients. The mean visual acuity was 20/50. The mean distance vision score of 0.62 ± 0.30 and near vision score of 0.78 ± 0.23 were correlated with visual acuity in the 20 patients (ρ = 0.64, P = .002 and ρ = 0.61, P = .005, respectively) and were associated with the severity of colobomatous malformation (P = .049 and P = .008, respectively). Severity of the ocular malformation was not associated with the overall ability score (P = .64).

Conclusions:

The VISIOCHARGE questionnaire is feasible for patients with CHARGE syndrome and may help in the assessment of visual function. The mean visual acuity and answers to the VISIOCHARGE questionnaire showed relatively good visual skills in patients with CHARGE syndrome in everyday life, even in those with bilateral colobomas, which contrasts with the pessimistic conclusions usually resulting from the initial fundus examination.

[J Pediatr Ophthalmol Strabismus. 2020;57(2):120–128.]

Abstract

Purpose:

To evaluate functional vision in patients with CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies) by using a new questionnaire entitled VISIOCHARGE.

Methods:

Ophthalmological data including fundus description and visual acuity, when available, were extracted from the charts of 83 patients with CHARGE syndrome, and the VISIOCHARGE questionnaire was prospectively mailed to 55 of those patients. The answers from the 36 responders (18 males) allowed for the calculation of three scores that assessed distance vision, near vision, and overall ability scores.

Results:

Visual acuity measurements were extracted from the charts of 20 of the 36 patients. The mean visual acuity was 20/50. The mean distance vision score of 0.62 ± 0.30 and near vision score of 0.78 ± 0.23 were correlated with visual acuity in the 20 patients (ρ = 0.64, P = .002 and ρ = 0.61, P = .005, respectively) and were associated with the severity of colobomatous malformation (P = .049 and P = .008, respectively). Severity of the ocular malformation was not associated with the overall ability score (P = .64).

Conclusions:

The VISIOCHARGE questionnaire is feasible for patients with CHARGE syndrome and may help in the assessment of visual function. The mean visual acuity and answers to the VISIOCHARGE questionnaire showed relatively good visual skills in patients with CHARGE syndrome in everyday life, even in those with bilateral colobomas, which contrasts with the pessimistic conclusions usually resulting from the initial fundus examination.

[J Pediatr Ophthalmol Strabismus. 2020;57(2):120–128.]

Introduction

CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies) is a multiple malformative syndrome, with coloboma representing a major feature and diagnostic criterion.1,2 This ocular anomaly is found in 72% to 95% of patients with CHARGE syndrome3–8 and represents an important cause of disability in affected patients. However, previous studies mainly focused on the anatomical aspects of the ocular manifestation of the syndrome and rarely reported results from visual acuity and/or visual function assessment. The lack of data is due in part to the difficulty in obtaining a reliable visual acuity value in many patients with CHARGE syndrome, because classic ophthalmological evaluation methods are often not applicable due to the multiple sensory deficits and/or cognitive disabilities of such patients. The few studies reporting visual acuity in CHARGE syndrome found mean values worse than 20/60.4–8 However, in our experience, the parents, relatives, and professionals caring for these patients often report good visual skills in everyday life, which contrasts with the often pessimistic conclusions from the ophthalmological examinations, in particular neonatal examinations. This contrast points out the need for a new tool to assess the real visual function in patients with CHARGE syndrome regardless of the severity of their sensory, motor, and/or cognitive impairments.

In this study, we developed an original self-administered questionnaire (VISIOCHARGE) designed for patients with CHARGE syndrome and used it to evaluate the functional vision of patients with CHARGE syndrome. Secondary goals were to describe the ocular features of a large series of patients with CHARGE syndrome, analyze the links between the severity of the ocular malformation and practical visual function, and confirm the previously suspected correlation between visual impairment and poor developmental milestones in these children.9,10

Patients and Methods

Questionnaire Development

The VISIOCHARGE questionnaire (Table A, available in the online version of this article) was built from observations and comments from pediatricians, ophthalmologists, and orthoptists who were familiar with treating patients with CHARGE syndrome. The first version of the questionnaire was randomly sent to four families to obtain their comments on its quality, feasibility, and understandability. After review, we adopted a final version of the questionnaire that comprised 30 items in three categories: (1) parental evaluation of global vision (2 items), designed to assess parents' feelings about the importance of their child's visual impairment and its effect on everyday life; (2) evaluation of distance vision (9 items); and (3) evaluation of near vision (10 items). Additional questions were asked to evaluate the ophthalmological follow-up (4 items), educational level, and age of walking acquisition for the patient (5 items). Some free space was available at the end of the document for open answers and comments.

VISIOCHARGE QuestionnaireVISIOCHARGE QuestionnaireVISIOCHARGE Questionnaire

Table A:

VISIOCHARGE Questionnaire

Study Population

All patients with CHARGE syndrome observed or seen at least once between January 1, 1990, and December 31, 2016, in the pediatric and/or ophthalmology departments of Necker-Enfants Malades Hospital and/or La Pitié-Salpétrière Hospital in Paris, France, were included. CHARGE syndrome diagnosis was established clinically using the criteria of Blake1 and Verloes.2 When available, the patients' CHD7 gene mutation status was extracted from medical charts.

The VISIOCHARGE questionnaire was mailed between January 1, 2017, and December 31, 2017, to the patient's most recent address in the hospital database with an informational letter and consent form. The patients, or their parents in cases of inability to read and/or understand the questions, were asked to complete the questionnaire and return it by mail to the investigator with the signed consent form. A few days after mailing the questionnaire, investigators contacted the patients or their parents by phone to further explain the aim of the study and answer any questions.

Patients with CHARGE syndrome who died before the beginning of the study were excluded, and their parents were not asked to participate. This study was approved by the ethics committee of Necker-Enfants Malades Hospital (authorization number: 2016-VA 24-R1) on October 31, 2016, and adhered to the tenets of the Declaration of Helsinki.

Data Collection and Outcome Measures

The following information was extracted from the medical charts of patients included in the current study: the most recent best corrected binocular visual acuity, the description of the fundus in each eye after dilation (presence of chorioretinal and/or optic disc coloboma, involvement of the fovea and/or the optic disc inside the coloboma), and presence of nystagmus, strabismus, and any other anomaly seen during the ophthalmological examination, including ptosis, facial palsy, congenital cataract, or retinal detachment.

Visual acuity was measured with the French Monoyer chart and expressed in decimal, fraction (feet), and logarithm of the minimum angle of resolution (logMAR) units.

Using data from the medical charts, we assigned patients to two groups based on the severity of the anatomical lesions. The group with mild anatomical lesions included patients with no coloboma in both eyes, and patients with a coloboma in one or both eyes but at least one eye with a fully preserved optic disc and fovea. The group with severe anatomical lesions included patients with a coloboma involving the optic disc in both eyes, with or without involvement of the fovea.

Answers to each item on the questionnaire were analyzed independently to detail the visual ability. We then calculated three scores by giving a value in points for the different items. The maximum score corresponded to the most difficult or smallest things to see. The three scores calculated were distance vision, near vision, and overall ability. The overall ability score combined the answers of 6 items exploring the ability to perform six tasks: watch television, move around indoors in a familiar place, move around indoors in an unknown place, move around outdoors, use a digital tablet, and use a smartphone. The scores were expressed as decimals between 0 and 1.

To assess the psychomotor development of patients, the questionnaire asked about the age of walking acquisition, which was verified in the medical charts, and the most recently attended educational structure. These educational structures were classified from levels 1 to 5, reflecting the communication and cognitive abilities of the patients: (1) in a regular school without any specific assistance; (2) with an assistant dedicated to the child in a regular school; (3) in a specific classroom and/or structure for deaf and/or blind children without cognitive disabilities; (4) in a structure dedicated to deaf and/or blind children with cognitive impairment but without communication abilities; and (5) severe cognitive disabilities without any acquired language and poor learning.

Statistical Analysis

Continuous variables were expressed as mean ± standard deviation. Because the sample was too small, we could not divide the ophthalmological severity of patients into more than two groups to analyze the correlation between anatomic and functional data. We compared groups with the Kruskall– Wallis, Mann–Whitney U, and Fisher's exact tests, and used the Spearman correlations. A two-sided P value of less than .05 was considered significant.

Results

The database review found 83 patients (46 males) who were observed in the two centers for CHARGE syndrome with or without ophthalmological involvement. Of the 83 patients, 10 were deceased and 18 were lost to follow-up; thus, the VISIOCHARGE questionnaire was sent to 55 patients. Four questionnaires were returned due to incorrect addresses, and 15 families received the letter but did not answer or refused to take part in the study. Finally, of the 55 solicited patients, 36 (18 males) with completed VISIOCHARGE questionnaires were included in the analysis (response rate = 66%). The mean age of responders was 13.8 ± 6.9 years. The demographic, ophthalmological, and neurodevelopmental characteristics of the 36 responders were comparable to those of the 83 patients in the entire study (Table 1), which allowed for discussion and conclusions. A mutation in the CHD7 gene was found in 31 of 33 investigated patients (94%). The genetics investigation had not been performed for three others.

VISIOCHARGE Questionnaire Responders Versus Total Number of Patients With CHARGE Syndrome

Table 1:

VISIOCHARGE Questionnaire Responders Versus Total Number of Patients With CHARGE Syndrome

Of the 36 patients, 32 (89%) had at least one ocular coloboma of the posterior segment reported in their medical chart, and 4 of 32 (11%) presented with a unilateral retinal detachment. Overall, 27 of 36 patients (75%) wore glasses. The mean age at the first optical correction was 4 ± 3.7 years.

Visual Function and Its Effect on Activities of Daily Life

Of the 36 patients, 20 (56%) had visual acuity data available in their medical charts. In these patients, the mean visual acuity was 0.42 (20/50, 0.40 logMAR). When we excluded the only patient without coloboma with a measurable visual acuity, the mean visual acuity was similar (0.40 logMAR). The parents of 26 of 36 patients (72%) reported trouble related to their child's vision, and the parents of 11 of 36 patients (31%) declared that their child was “very bothered” by it (Table 2). Nevertheless, 32 of 36 patients (89%) were able to use electronic devices such as smartphones or digital tablets, 31 of 36 (86%) were able to watch television, 22 of 36 (61%) reported the ability to recognize a familiar face at a distance further than 2 m, and 19 of 36 (53%) were able to read or identify size 18 Arial characters at a reading distance of 40 cm. The mean distance vision, near vision, and overall ability scores were 0.62 ± 0.30, 0.78 ± 0.23, and 0.79 ± 0.25, respectively.

Answers to the VISIOCHARGE Questionnaire for the 36 Children

Table 2:

Answers to the VISIOCHARGE Questionnaire for the 36 Children

For the 20 patients with a visual acuity measurement, the distance vision and near vision scores from the VISIOCHARGE questionnaire were positively correlated with the measured visual acuity (ρ = 0.64, P = .002 and ρ = 0.61, P = .005, respectively). Parental evaluation of the global vision of their child was correlated with the distance vision and near vision scores (rs = 0.61, P < .001 and rs = 0.63, P < .001, respectively) and with measured visual acuity (rs = 0.68, P < .001).

Developmental Features

In the current study, the mean age of walking acquisition was 35.4 ± 15.0 months. The distance vision score was negatively correlated with age of walking acquisition (ρ = −0.38, P = .037). Age of walking acquisition was not correlated with parental evaluation of their child's global vision, near vision, or overall ability score (rs = −0.22, P = .23; ρ = 0.03, P = .86; and ρ = 0.02, P = .92, respectively).

Regarding educational levels, most patients had been schooled in structures of types 2, 3, and 4. The distance vision, near vision, and overall ability scores were all negatively correlated with educational level (rs = −0.54, P < .001; rs = −0.45, P < .001; and rs = −0.39, P = .02, respectively). Educational level was not correlated with parental evaluation of the global vision of their child (rs = −0.27, P = .11).

Correlation Between Anatomic and Functional Data

The group with mild anatomical lesions (n = 18) was compared to the group with severe anatomical lesions (n = 17) (Table 3). One patient was excluded from this analysis because of an incomplete description of the fundus. As expected, the mean visual acuity was significantly worse for the group with severe anatomical lesions than the group with mild anatomical lesions: 0.23 (20/80, 0.64 logMAR) vs 0.88 (20/25, 0.05 logMAR), P < .001. Similarly, the mean distance vision and near vision scores were significantly lower for the group with severe anatomical lesions than the group with mild anatomical lesions (0.54 vs 0.71, P = .049 and 0.69 vs 0.88, P = .008, respectively). However, the two groups did not differ in parental evaluation of their child's global vision (P = .07) or in the overall ability score from the questionnaire (0.76 vs 0.83, P = .64). The two groups did not differ in developmental features. Taken separately, the only two items showing a significant difference between the two groups were those exploring the ability to recognize a familiar face at a given distance (P = .008) and the smallest size of Arial text readable (P = .03).

Comparison of Visual and Developmental Features by Severity of the Colobomatous Malformation

Table 3:

Comparison of Visual and Developmental Features by Severity of the Colobomatous Malformation

Comments from Responders

Ten patients (28%) (or their parents) reported better performance in near vision than distance vision. For 6 patients (17%), a photophobia was also reported. The parents of a young patient reported that their child had been given a prognosis of severe vision loss (total blindness) after the first ophthalmological examination at birth because of the severity of the colobomas involving the fovea in both eyes. The visual acuity of this patient was measured at 0.3 (20/60, 0.48 logMAR). His distance vision, near vision, and overall ability scores were 0.70, 0.60, and 1, respectively. One patient highlighted a prosopagnosia (difficulty in recognizing faces out of their context).

Discussion

The current study is one of the largest to describe the ocular features of CHARGE syndrome and the first to specifically address the question of visual function, showing better visual skills than previously reported. The most recent studies4,5,7 reported visual acuity worse than 0.3 (20/60, 0.48 logMAR) in 58% to 67% of patients with CHARGE syndrome for whom visual acuity was measurable, which contrasts with the 30% in our series, closer to the 17% found by Russel-Eggit et al.6 However, these comparisons are difficult to interpret because of the small proportion of patients in whom visual acuity was measurable. With 20 patients (56%) having a measured visual acuity, our study is the first to report such a high proportion of available data. However, the substantial number of missing data is also the main reason that led us to look for another way to explore visual function in this specific population.

In the ophthalmological field, some examination methods exist to assess visual function in non-verbal children who are very young or have an intellectual impairment. Among them, the preferential looking procedures11 (eg, Cardiff Acuity Test and Teller Acuity Test), optokinetic nystagmus assessment, and visual evoked potentials are the most commonly used. However, these tools are not widely available in routine care and may not be suitable for some patients with CHARGE syndrome because of cognitive disabilities that reduce their attention or ophthalmological features such as oculomotor palsies or nystagmus, which are commonly found in this population.

Questionnaires assessing functional vision in the pediatric field are being increasingly used to assess the effects of visual impairment on the quality of life. We reviewed seven available questionnaires,12–18 but none were suitable for patients with CHARGE syndrome because the questions implied an absence of sensory, motor, or cognitive disabilities in addition to the visual impairment (Table 4). We found two questionnaires that were designed for children with disabilities.19,20 However, one was not appropriate for regular, self-administered evaluation because some items seemed equivocal, whereas the other was specifically aimed at children with severe cognitive disabilities, which was not a systematic feature of patients with CHARGE syndrome. Thus, our purpose was to create an original questionnaire that was suitable for every patient, regardless of their age or motor and/or cognitive disability. The VISIOCHARGE questionnaire not only proved its feasibility in a heterogenous population of patients with CHARGE syndrome, but it also demonstrated that most of the patients with CHARGE syndrome were able to perform similar tasks as other children. Most of the patients were not very bothered by their visual impairment, especially in tasks that involved near vision. The main difficulties reported were with distance vision and outdoor activities.

Comparison of Existing Questionnaires Evaluating Visual Function and Visual Disability in Children

Table 4:

Comparison of Existing Questionnaires Evaluating Visual Function and Visual Disability in Children

The VISIOCHARGE questionnaire could reflect visual function because the distance vision and near vision scores were well correlated with visual acuity, when available. To confirm these results, this questionnaire should be tested with other diseases featuring impaired visual function in children with and without associated disabilities. The main limitation of this study is that the VISIOCHARGE questionnaire has not been rigorously validated yet. Now that we have proven the questionnaire's feasibility in a pilot population, its use in a much larger population is possible and its validation by evaluating its metrological qualities has to be done. Another important limitation of the study was the risk of subjectivity, which was unavoidable with a self-administered questionnaire and perhaps more so when a relative performed it. However, because we wanted to assess the patients' visual skills in everyday life, we cannot completely suppress this subjectivity.

With a total of 83 charts reviewed, our study is the largest to detail the ocular features in patients with CHARGE syndrome. As previously described, the most frequent feature is chorioretinal coloboma, which was found in 83% of our patients and was close to the 82%, 79%, and 90% reported by Russel-Eggit et al.,6 Tellier et al.,8 and Strömland et al.,7 respectively. Retinal detachment was found in 4.4% of colobomatous eyes, which was lower than the average in previously published data on retinal detachment complicating colobomas, suggesting that CHARGE syndrome may not be a risk factor for retinal detachment.

The correlation between anatomy and function is incomplete. Although visual acuity, distance vision scores, and near vision scores were better in children with peripheral colobomas than in children with colobomatous lesions involving both the optic nerve and/or macula, the results from the VISIOCHARGE questionnaire did not find any differences between these patients in overall ability score and parental evaluation of their global vision. This lack of correlation may be due in part to a potential failure of our questionnaire to reveal a difference. However, these results confirm the general impression of parents and caregivers: children with CHARGE syndrome and large colobomas can develop some surprising compensatory strategies, allowing them to use their remaining vision, either central or peripheral. Another explanation for the lack of anatomic and functional correlation is the difficulty for ophthalmologists to assess macular anatomy by fundus examination alone, as it was previously shown.21 Thus, as suggested by Nishina et al.,5 it seems crucial not to predict poor vision in a neonate with CHARGE syndrome and bilateral coloboma because our experience showed that some of these children can later show correct visual function.

The current study also confirmed the previously suspected association between visual function and some developmental parameters9,10 independent of other manifestations of the syndrome. Late acquisition of walking has been negatively correlated with distance vision score, and educational level has also been correlated with all visual function scores. This observation reinforces the promotion of regular and rigorous ophthalmological care for every patient with CHARGE syndrome, regardless of the severity of the ocular malformation, to ensure the best visual prognosis and good general development.

Assessment of visual function in patients with CHARGE syndrome may be challenging because visual acuity measurements are often not possible in these patients. We present encouraging preliminary results with an original questionnaire, specifically designed for children with visual impairment and associated sensory, motor, and/or cognitive disabilities. The relatively good visual skills of the patients in this study contrasts with the frequently pessimistic conclusions from initial ophthalmological examinations. Ophthalmologists should not give a poor visual prognosis to parents of a newborn recently diagnosed as having CHARGE syndrome and bilateral coloboma. They should encourage parents to stimulate the newborn with lights and colored objects as much as possible to foster the development of the social brain and visual cortex.

References

  1. Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. doi:10.1186/1750-1172-1-34 [CrossRef]
  2. Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 2005;133A(3):306–308. doi:10.1002/ajmg.a.30559 [CrossRef]
  3. Legendre M, Abadie V, Attié-Bitach T, et al. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet C Semin Med Genet. 2017;175(4):417–430. doi:10.1002/ajmg.c.31591 [CrossRef]
  4. McMain K, Blake K, Smith I, et al. Ocular features of CHARGE syndrome. J AAPOS. 2008;12(5):460–465. doi:10.1016/j.jaapos.2008.02.009 [CrossRef]
  5. Nishina S, Kosaki R, Yagihashi T, et al. Ophthalmic features of CHARGE syndrome with CHD7 mutations. Am J Med Genet A. 2012;158A(3):514–518. doi:10.1002/ajmg.a.34400 [CrossRef]
  6. Russell-Eggitt IM, Blake KD, Taylor DS, Wyse RK. The eye in the CHARGE association. Br J Ophthalmol. 1990;74(7):421–426. doi:10.1136/bjo.74.7.421 [CrossRef]
  7. Strömland K, Sjögreen L, Johansson M, et al. CHARGE association in Sweden: malformations and functional deficits. Am J Med Genet A. 2005;133A(3):331–339. doi:10.1002/ajmg.a.30563 [CrossRef]
  8. Tellier AL, Cormier-Daire V, Abadie V, et al. CHARGE syndrome: report of 47 cases and review. Am J Med Genet. 1998;76(5):402–409.
  9. Raqbi F, Le Bihan C, Morisseau-Durand MP, Dureau P, Lyonnet S, Abadie V. Early prognostic factors for intellectual outcome in CHARGE syndrome. Dev Med Child Neurol. 2003;45(7):483–488. doi:10.1111/j.1469-8749.2003.tb00944.x [CrossRef]
  10. Salem-Hartshorne N, Jacob S. Adaptive behavior in children with CHARGE syndrome. Am J Med Genet A. 2005;133A(3):262–267. doi:10.1002/ajmg.a.30546 [CrossRef]
  11. Mackie RT, McCulloch DL. Assessment of visual acuity in multiply handicapped children. Br J Ophthalmol. 1995;79(3):290–296. doi:10.1136/bjo.79.3.290 [CrossRef]
  12. Cochrane GM, Marella M, Keeffe JE, Lamoureux EL. The Impact of Vision Impairment for Children (IVI_C): validation of a vision-specific pediatric quality-of-life questionnaire using Rasch analysis. Invest Ophthalmol Vis Sci. 2011;52(3):1632–1640. doi:10.1167/iovs.10-6079 [CrossRef]
  13. Felius J, Stager DR Sr, Berry PM, et al. Development of an instrument to assess vision-related quality of life in young children. Am J Ophthalmol. 2004;138(3):362–372. doi:10.1016/j.ajo.2004.05.010 [CrossRef]
  14. Gothwal VK, Sumalini R, Bharani S, Reddy SP, Bagga DK. The second version of the L. V. Prasad-functional vision questionnaire. Optom Vis Sci. 2012;89(11):1601–1610. doi:10.1097/OPX.0b013e31826ca291 [CrossRef]
  15. Katsumi O, Chedid SG, Kronheim JK, Henry RK, Jones CM, Hi-rose T. Visual Ability Score—a new method to analyze ability in visually impaired children. Acta Ophthalmol Scand. 1998;76(1):50–55. doi:10.1034/j.1600-0420.1998.760109.x [CrossRef]
  16. Khadka J, Ryan B, Margrain TH, Court H, Woodhouse JM. Development of the 25-item Cardiff Visual Ability Questionnaire for Children (CVAQC). Br J Ophthalmol. 2010;94(6):730–735. doi:10.1136/bjo.2009.171181 [CrossRef]
  17. Pueyo V, García-Ormaechea I, González I, et al. Development of the Preverbal Visual Assessment (PreViAs) questionnaire. Early Hum Dev. 2014;90(4):165–168. doi:10.1016/j.earlhumdev.2014.01.012 [CrossRef]
  18. Tadic V, Cooper A, Cumberland P, Lewando-Hundt G, Rahi JSVision-related Quality of Life Group. Development of the functional vision questionnaire for children and young people with visual impairment: the FVQ_CYP. Ophthalmology. 2013;120(12):2725–2732. doi:10.1016/j.ophtha.2013.07.055 [CrossRef]
  19. Ferziger NB, Nemet P, Brezner A, Feldman R, Galili G, Zivotofsky AZ. Visual assessment in children with cerebral palsy: implementation of a functional questionnaire. Dev Med Child Neurol. 2011;53(5):422–428. doi:10.1111/j.1469-8749.2010.03905.x [CrossRef]
  20. McCulloch DL, Mackie RT, Dutton GN, et al. A visual skills inventory for children with neurological impairments. Dev Med Child Neurol. 2007;49(10):757–763. doi:10.1111/j.1469-8749.2007.00757.x [CrossRef]
  21. Olsen TW, Summers CG. Predicting visual acuity in eyes with fundus colobomas: optic nerve involvement, size, or the fovea?Ophthalmology. 1997;104(9):1367–1368. doi:10.1016/S0161-6420(97)38955-6 [CrossRef]

VISIOCHARGE Questionnaire Responders Versus Total Number of Patients With CHARGE Syndrome

CharacteristicPatients With CHARGE Syndrome (n = 83)VISIOCHARGE Questionnaire Responders (n = 36)P
Sex, n (%).69
  Male46 (55)18 (50)
  Female37 (45)18 (50)
Ocular features, n (%)
  Posterior coloboma69 (83)32 (89).58
    Unilateral14 (17)7 (19)
    Bilateral55 (66)25 (69)
  Iris coloboma12 (14)7 (19).59
    Unilateral6 (7)3 (8)
    Bilateral6 (7)4 (11)
  Microphthalmos28 (34)15 (42).41
    Unilateral25 (30)13 (36)
    Bilateral3 (4)2 (6)
  Ptosis14 (17)7 (19).80
  Nystagmus24 (29)11 (31)1.00
  Facial palsy24 (29)10 (28)1.00
  Congenital cataract4 (5)1 (3)1.00
    Unilateral3 (4)1 (3)
    Bilateral1 (1)0
  Retinal detachment6 (7)4 (11).49
    Unilateral6 (7)4 (11)
    Bilateral00
Severity of the coloboma, n (%).55
  Mild anatomical lesions42 (51)18 (50)
  Severe anatomical lesions36 (43)17 (47)
  Unclassified5 (6)1 (3)
Age of walking (months)
  Mean ± SD36.9 ± 15.735.4 ±15.0.66
  Range19 to 7819 to 78
Visual acuity
  Mean (decimal)0.410.42.97
  Unmeasurable, n (%)48 (58)16 (44)

Answers to the VISIOCHARGE Questionnaire for the 36 Children

CategoryAnswer
Global vision

Parental evaluation of the global vision of their child, n (%)
  Normal, or abnormal but without inconvenience10 (28)
  Slightly bothered by his/her visual impairment7 (19)
  Moderately bothered by his/her visual impairment8 (22)
  Very bothered by his/her visual impairment11 (31)

Distance vision

My child can watch television, n (%), IDK31 (86), 0
If yes, the television is placed at a distance of: n (%)
  > 2 m7/31 (23)
  50 cm to 2 m17/31 (54)
  < 50 cm7/31 (23)
My child can recognize a familiar face at a maximum distance of: n (%)
  > 10 m9 (25)
  2 m to 10 m13 (36)
  < 2 m12 (33)
  IDK2 (6)
When looking at the sky, my child can see:
  The moon, at night, n (%), IDK19 (53), 9
  A plane, at daytime, n (%), IDK19 (53), 5
The visual impairment of my child bothers him/her in moving:
  Indoors, in a familiar place, n (%), IDK3 (8), 4
  Indoors, in an unknown place, n (%), IDK9 (25), 5
  Outdoors, n (%), IDK19 (53), 2
Distance vision score, mean ± SD0.62 ± 0.30

Near vision

My child can use a tablet PC, n (%), IDK32 (89), 0
If yes, he/she uses it:
  In “normal” conditions28/32 (88)
  With specific adjustments (eg, character magnification)4/32 (12)
My child can use a smartphone, n (%), IDK32 (89), 1
My child can read a text (or identify drawings) of a minimum size of (at a distance of 40 cm): n (%)
  Arial 812 (33)
  Arial 104 (11)
  Arial 183 (8)
  Arial 284 (11)
  Arial 486 (17)
  > Arial 482 (6)
  My child cannot perform this test5 (14)
During lunch time, my child can see on the table in front of him/her: n (%)
  A grain of rice29 (81)
  An olive35 (97)
  An apricot/plum/strawberry35 (97)
  An apple/orange36 (100)
My child is able to see and catch a strand of hair, n (%), IDK22 (61), 2
Near vision score, mean ± SD0.78 ± 0.23
Overall ability score (television, motion, smartphone, or electronic digital tablet), mean ± SD0.79 ± 0.25

Comparison of Visual and Developmental Features by Severity of the Colobomatous Malformation

CharacteristicMild Anatomical Lesions (n = 18)Severe Anatomical Lesions (n = 17)Pa
Age (years), mean ± SD13.1 ± 6.814.7 ± 7.3.50
Parental evaluation of the overall vision of their child, n (%).07
  Normal, or abnormal but without inconvenience8 (44)2 (12)
  Slightly bothered by his/her visual impairment2 (11)5 (29)
  Moderately bothered by his/her visual impairment5 (28)3 (18)
  Very bothered by his/her visual impairment3 (17)7 (41)
Visual acuity (logMAR), mean ± SD0.05 ± 0.100.64 ± 0.28< .001
Distance vision score, mean ± SD0.71 ± 0.310.54 ± 0.27.049
Near vision score, mean ± SD0.88 ± 0.200.69 ± 0.22.008
Overall ability score, mean ± SD0.83 ± 0.200.76 ± 0.30.64
Age of walking (months), mean ± SD34.7 ± 15.936.2 ± 15.1.79

Comparison of Existing Questionnaires Evaluating Visual Function and Visual Disability in Children

QuestionnaireAge (y)Target ChildrenPerson InterviewedNo. of ItemsEvaluated Parameters
VASa2 to 18Children with visual impairment with no other sensorial, physical, or cognitive disabilityParents16Visual acuity, visual field, color vision
CVFQb≤ 7Children with visual impairment with or without developmental delayParents40Personal, social, and familial impact of visual disability
CVAQCc5 to 18Children with acquired spoken language and no sensorial, physical, or cognitive disabilityChild25Ability to complete tasks requiring vision
IVI_Cd8 to 18Children with visual impairment with acquired spoken language and no other sensorial, physical, or cognitive disabilityChild24Personal, social, and scholar impact of visual disability
LVP_FVQ IIe8 to 18Children in developing countries with acquired spoken language and no sensorial, physical, or cognitive disabilityChild23Grading of visual impairment
FVQ_CYPf10 to 15Children with acquired spoken language and no sensorial, physical, or cognitive disabilityChild36Ability to complete tasks requiring vision
PreViAsg≤ 2Infants, except premature infants, without a “major” adverse medical history or developmental delayParents30Reactions of the infant to visual stimulations

VISIOCHARGE Questionnaire

Is your child currently attending school (regardless of any facilities or adjusments) ?

Yes

No

If your child is 6 or older, what kind of school is he/she attending ? With which help, adjustments, and/or facilities ?

« Regular » school without any specific adjustment

« Regular » school with a dedicated help (for example: a personal assistant)

« Regular » school, in a classroom dedicated to the integration of children with disabilities

School for deaf children

School for deaf children with some other associated disabilities

School for children with visual disability

School for children with visual disability and some other associated disabilities

School dedicated to children with visual impairment and deafness

School for children with severe cognitive disability

Other: ...........................................................

Please precise the name and address of the school :.........................................................................................................................................................................................................

Has a teacher and/or caregiver of your child told you any remark about your child's vision ? (for example: difficulties in reading the billboard, seeing some colours, etc.)

.........................................................................................................................................................................................................

At what age did your child start to walk alone ?

At home: .................................

Outside: ....................................

My child still needs some help to walk

How does your child communicate with you and other people ?

A language (verbal or sign language) of good quality with ability to express abstract ideas

A language (verbal or sign language), with vocabulary limited to actions of everyday-life

He/she shows things, makes us understand by doing simple gestures

He/she is not able to communicate

When was your child's last ophthalmological examination?........................................................................

If possible, please precise the visual acuity measured during this check-up:

Right eye: ................. Left eye: .................... Both eyes open: .....................

Please write the name and adress of the ophthalmologist following your child:

.........................................................................................................................................................................................................

Does your child wear spectacles ?   □ Yes   □ No  If yes, since when ? ...............

Has your child ever had a retinal detachment ?

□ Yes, in right eye (precise year please:)    □ Yes, in left eye (precise year please:)

□ No

If yes, in which circumstances did it happen ?

  □    Spontaneously  □    After an accidental trauma      □After a self-injury

Would you say that your child has a normal vision for his/her age ?   □ Yes     □ No

If no, do you think your child is bothered by his/her vision ?

□ No    □ Yes, slightly bothered    □ Yes, moderately bothered  □ Yes, very bothered

Does your child sometimes watch television ?     □ Yes     □ No

If yes, how far from the screen does he/she stand (with his/her spectacles, if applicable) (considering a screen of 39 inches) ?

    □ less than 50 centimeters     □ between 50 centimeters and 2 meters     □ more than 2 meters

How far can your child recognize a familiar face in a public place (supermarket, park) (with his/her spectacles, if applicable) ?

    □ more than 10 meters     □ between 2 and 10 meters     □ less than 2 meters

Can your child see the moon in the sky at night ?   □ Yes     □ No

Can you child see a plane flying in the sky at daytime ?   □ Yes    □ No

Is your child bothered by his/her visual impairment when moving indoors, in a familiar place ?   □ Yes    □ No

Is your child bothered by his/her visual impairment when moving indoors, in an unknown place ?   □ Yes    □ No

Is your child bothered by his/her visual impairment when moving outdoors ?

    □ Yes    □ No

Free comments on distance-vision of your child:

.........................................................................................................................................................................................................

.........................................................................................................................................................................................................

.........................................................................................................................................................................................................

Can your child use a smartphone ?

Yes

No, please precise why :

.........................................................................................................................................................................................................

.........................................................................................................................................................................................................

Can your child use a tablet PC ?

Yes

No, please precise why :

.........................................................................................................................................................................................................

.........................................................................................................................................................................................................

If yes, can he/she uses it ...

    □« normally »    □ with specific adjustments (eg, character magnification)

Which character size can your child read on a tablet PC/on a book, at a «regular» reading distance of 30 – 40 centimeters ? Please select the smallest sentence that your child can read.

L'arbre est dans la prairie.

L'enfant grimpe dans l'arbre.

L'oiseau se pose sur la branche.

L'avion est dans le ciel.

Le nuage est blanc.

none of the 5, they are too small.

none of the 5, this test is not applicable to my child.

Which character size can your child read on a tablet PC/on a book, at a «regular» reading distance of 30 – 40 centimeters ? Please select the smallest drawing that your child can read.

none of the 5, they are too small.

none of the 5, this test is not applicable to my child.

During lunch time, can you child see on the table in front of him/her a grain of rice?

  □ Yes     □ No

During lunch time, can you child see on the table in front of him/her an olive ?

  □ Yes     □ No

During lunch time, can you child see on the table in front of him/her an apricot/a plum/a strawberry ?   □ Yes    □ No

During lunch time, can you child see on the table in front of him/her an apple/an orange ?

  □ Yes     □ No

Is your child able to see and catch a strand of hair ?

  □ Yes     □ No, because of his/her vision     □ No, for another reason. Please precise :

........................................................................................................................................................................................................

Free comments :

.........................................................................................................................................................................................................

.........................................................................................................................................................................................................

.........................................................................................................................................................................................................

Authors

From the Department of Ophthalmology, Hôpital-Fondation A. de Rothschild, Paris, France (GCM); Sorbonne University, Paris, France (GCM, GC, BB); Rare Ophthalmological Diseases Reference Centre (MPR, DB-G) and the Departments of Ophthalmology (MPR, DB-G), Genetics (TA-B), and Pediatrics (VA), Necker-Enfants Malades University Hospital, Paris, France; the Cognition and Action Group (MPR), the Obstetrical, Perinatal, and Pediatric Epidemiology Research Team and Research Centre for Epidemiology and Biostatistics (NTHT), Paris Descartes University, Paris, France (TA-B, DB-G, VA); the Department of Ophthalmology, FOReSIGHT IHU, La Pitié-Salpétrière University Hospital, Paris, France (GC, BB); and Imagine Institute, IHU, Paris, France (TA-B, VA).

The authors have no financial or proprietary interest in the materials presented herein.

The authors thank the patients and families for their participation, Ms. Wiam Bhia for her help in collecting consent forms, Professor Martin Chalumeau for his review of the manuscript, Ms. Charlotte Creux for her help in creating the questionnaire, and Ms. Laura Smales for her help with editing and English writing.

Correspondence: Gilles C. Martin, MD, Department of Ophthalmology, Hôpital-Fondation A. de Rothschild, 25–29 Rue Manin, 75019 Paris, France. E-mail: gillesmartin88@gmail.com

Received: October 06, 2019
Accepted: January 13, 2020

10.3928/01913913-20200207-02

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