Ophthalmic Surgery, Lasers and Imaging Retina

Clinical Science 

Posterior Segment Characterization in Children With Pierson Syndrome

Abdulaziz AlTaisan, MD; Moustafa Magliyah, MD; Marwan A. Abouammoh, MD; Ibrahim Taskintuna, MD; Yahya Alzahrani, MD; Emmanuel Chang, MD; Sulaiman M. Alsulaiman, MD

Abstract

BACKGROUND AND OBJECTIVE:

Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in association with microcoria. The authors aim to describe the posterior segment and retinal features in Pierson syndrome.

PATIENTS AND METHODS:

A retrospective chart review of nine patients diagnosed with Pierson syndrome was ascertained. Details of ophthalmic history, ocular examination, retinal imaging, and surgical interventions were obtained during a median duration of 17 months of follow-up (range: 6 to 60 months). Retinal interventions included scatter laser photocoagulation and surgical retinal repair.

RESULTS:

Sixteen eyes of nine patients were included. The axial length of five eyes with flat retina was 26.59 mm ± 0.99 mm. Highly myopic features including tessellated fundus with accompanying optic disc pallor, unidentifiable cup, and abnormal retinal vascular emanation from the disc were observed in all eyes (100%), whereas 12 eyes (75%) had parapapillary chorioretinal atrophy. Features of abnormal retinal vascularization included avascular peripheral retina on fluorescein angiography, aberrant course of the temporal arcades in 13 eyes (81.3%), and straightened nasal retinal blood vessels in 12 eyes (75%). Tortuous retinal blood vessels were observed in three eyes (18.75%). Surgical repair was performed in five out of seven eyes with rhegmatogenous retinal detachment (RRD). Recurrence was observed in all eyes, which required two to three procedures to achieve final reattachment.

CONCLUSIONS:

Combined features of high axial myopia with incomplete peripheral vascular maturation characterize the posterior segment in Pierson syndrome. Careful posterior segment examination is essential to detect RRD or retinal neovascularization.

[Ophthalmic Surg Lasers Imaging Retina. 2020;51:618–627.]

Abstract

BACKGROUND AND OBJECTIVE:

Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in association with microcoria. The authors aim to describe the posterior segment and retinal features in Pierson syndrome.

PATIENTS AND METHODS:

A retrospective chart review of nine patients diagnosed with Pierson syndrome was ascertained. Details of ophthalmic history, ocular examination, retinal imaging, and surgical interventions were obtained during a median duration of 17 months of follow-up (range: 6 to 60 months). Retinal interventions included scatter laser photocoagulation and surgical retinal repair.

RESULTS:

Sixteen eyes of nine patients were included. The axial length of five eyes with flat retina was 26.59 mm ± 0.99 mm. Highly myopic features including tessellated fundus with accompanying optic disc pallor, unidentifiable cup, and abnormal retinal vascular emanation from the disc were observed in all eyes (100%), whereas 12 eyes (75%) had parapapillary chorioretinal atrophy. Features of abnormal retinal vascularization included avascular peripheral retina on fluorescein angiography, aberrant course of the temporal arcades in 13 eyes (81.3%), and straightened nasal retinal blood vessels in 12 eyes (75%). Tortuous retinal blood vessels were observed in three eyes (18.75%). Surgical repair was performed in five out of seven eyes with rhegmatogenous retinal detachment (RRD). Recurrence was observed in all eyes, which required two to three procedures to achieve final reattachment.

CONCLUSIONS:

Combined features of high axial myopia with incomplete peripheral vascular maturation characterize the posterior segment in Pierson syndrome. Careful posterior segment examination is essential to detect RRD or retinal neovascularization.

[Ophthalmic Surg Lasers Imaging Retina. 2020;51:618–627.]

Introduction

Pierson syndrome (Online Mendelian Inheritance in Man [OMIM] 609049) was first described in 19631 as microcoria in association with congenital nephrotic syndrome (CNS). In 2004, Zenker et al.2 reported two unrelated consanguineous families with 11 affected individuals and found an autosomal recessive inheritance pattern. Soon afterwards, they identified mutations in LAMB2 gene (OMIM 150325) in the affected individuals.3 The LAMB2 gene, located at the short arm of chromosome 3, is comprised of 32 exons and encodes a 1,798 amino acid laminin B2. This protein belongs to the laminin family, which are cross-shaped or T-shaped heterotrimeric proteins, each consisting of α, β and γ subunits.46 Although mutations in the LAMB2 gene are considered specific for Pierson syndrome, the classical picture of CNS in association with microcoria is sufficient for diagnosis.7

Laminin B2 is found in the glomerular basement membrane, intraocular ciliary and pupillary muscles, and the neuromuscular system.2 Further studies indicated that laminin B2 is also expressed in the photo-receptors, outer plexiform layer, retinal vasculature, and internal limiting membrane (ILM).8,9 Previous studies provide limited information about the posterior segment in Pierson syndrome. These manifestations include persistent fetal vasculature (PFV),10,11 retinal detachment,11–13,15 and retinal dystrophy.12 The aim of this study is to characterize posterior segment findings and to investigate fluorescein angiography and optical coherence tomography (OCT) signs in patients with Pierson syndrome.

Patients and Methods

Institutional review board approval was obtained for this study at King Khaled Eye Specialist Hospital and King Abdulaziz University Hospital in Riyadh, Saudi Arabia, and Retina and Vitreous of Texas Institute, Texas. Patients diagnosed with Pierson syndrome clinically or confirmed by genetic analysis between 2014 and 2019 were included. Patients 1, 3, 5, 6, and 9 are probands who were referred to ophthalmology services at the three centers as cases of congenital nephrotic syndrome (CNS) with unilateral or bilateral decreased vision. Siblings of Patients 1 and 3 (Patients 2 and 4) who had CNS were also included. Patients 7 and 8 are siblings with LAMB2 mutations and no previous nephrological complaint or evaluation. Whenever available, genetic testing was done either to confirm the diagnosis or to explain atypical retinal features not compatible with other diagnoses. The diagnosis of Pierson syndrome in this cohort was based on either the classical picture of microcoria in association with CNS or harboring biallelic mutations in the LAMB2 gene on genetic testing.

All patients underwent comprehensive ophthalmic evaluation, which included ophthalmic examination and cycloplegic refraction. After pupillary dilation as much as possible, fundus photography, fluorescein angiography (Optos PLC, Dunfermline, UK), and OCT (Spectralis OCT; Heidelberg Engineering, Heidelberg, Germany) were performed in eyes with clear media and B-scan ultrasonography in eyes with media opacities. Full-field electroretinography (ffERG; Nicolet Biomedical Instruments, Madison, WI) in the dark-adapted and light-adapted states was performed.

Results

General and Anterior Segment Findings

Sixteen eyes of nine children from six families were diagnosed with Pierson syndrome between 2014 and 2019. The mean age at presentation was 8.6 years (range: 4 to 14 years) and the mean duration of follow-up was 27.2 months ± 22.3 months. In Patients 1 through 6 who were diagnosed with CNS by pediatric nephrologists prior to presentation to ophthalmology services, the diagnosis of Pierson syndrome was established based on finding microcoria on ophthalmic examination (Figure 1A). Next-generation sequencing in Patients 1 and 2 who are siblings revealed a homozygous c.4573+1G>A mutation in LAMB2 gene. In Patient 6, the diagnosis of Pierson syndrome was confirmed by finding c.416T>C mutation in the LAMB2 gene. In Patients 7 and 8, who had no history of renal impairment, normal renal functions, and iatrogenic mydriasis after undergoing lensectomy with intraocular lens implantation elsewhere, were suspected to have an atypical form of familial exudative vitreoretinopathy (FEVR) based on retinal examination, which revealed features of high axial myopia and persistent fetal vasculature (PFV) remnants. Although next-generation sequencing for genes associated with FEVR did not reveal any mutations, whole-exome sequencing revealed a homozygous c.4573+1G>A mutation in the LAMB2 gene. A 24-hour urine collection test revealed nephrotic-range proteinuria (2,629 mg in Patient 7 and 3,842 mg in Patient 8). Both patients were referred to pediatric nephrology for further evaluation for congenital nephrotic syndrome. Patient 9 was already on peritoneal dialysis for end-stage renal disease secondary to CNS. She had lost her right eye a long time ago due to an undetected rhegmatogenous retinal detachment (RRD) complicated by phthisis before presenting to the Ophthalmology Service with the complaint of slight decrease of vision in her only seeing left eye. The diagnosis of Pierson syndrome was confirmed by whole-exome sequencing, which revealed a c.970T>C mutation in the LAMB2 gene. Table 1 shows the demographics and anterior segment features of all patients.

Anterior segment and retinal features of an 8-year-old female (Patient 1) with Pierson syndrome. (A) Anterior segment photograph showing microcoria. (B) Right eye fundus photograph showing a tessellated fundus, optic disc pallor with unidentifiable cup, abnormal retinal vascular emanation, and parapapillary atrophy. A supero-temporal punched-out chorioretinal atrophy, avascular peripheral retina, aberrant course of temporal arcades, and straightening of nasal retinal vessels are also seen. (C) Right eye fluorescein angiography showing the lack of retinal perfusion beyond the macula temporally without a distinct vascularavascular junction. (D) Left eye fundus photograph showing total rhegmatogenous retinal detachment. (E) Left eye fundus photograph showing attached retina after surgical repair.

Figure 1.

Anterior segment and retinal features of an 8-year-old female (Patient 1) with Pierson syndrome. (A) Anterior segment photograph showing microcoria. (B) Right eye fundus photograph showing a tessellated fundus, optic disc pallor with unidentifiable cup, abnormal retinal vascular emanation, and parapapillary atrophy. A supero-temporal punched-out chorioretinal atrophy, avascular peripheral retina, aberrant course of temporal arcades, and straightening of nasal retinal vessels are also seen. (C) Right eye fluorescein angiography showing the lack of retinal perfusion beyond the macula temporally without a distinct vascularavascular junction. (D) Left eye fundus photograph showing total rhegmatogenous retinal detachment. (E) Left eye fundus photograph showing attached retina after surgical repair.

Demographic and Anterior Segment Features of Nine Patients With Pierson Syndrome

Table 1:

Demographic and Anterior Segment Features of Nine Patients With Pierson Syndrome

One eye in each of Patients 8 and 9 were excluded as the eyes were phthisical. The mean best-corrected visual acuity (BCVA) on presentation was 1.45 ± 0.67 (Snellen's equivalent 20/600) and mean BCVA on last follow-up was 1.27 ± 0.75 (Snellen's equivalent 20/360). Refraction of six phakic eyes revealed high myopia ranging from −12.00 to −25.00 diopters. The mean axial length of five eyes with flat retina was 26.59 mm ± 0.99 mm.

Retinal Findings

A characteristic combination of high myopia with abnormal retinal vascular development was found in all examined eyes. Signs of abnormal retinal vasculature were more evident on FFA (Figures 1B, 1C, and 2). Posterior segment findings are summarized in Table 2.

Retinal features of a 6-year-old male (Patient 2) with Pierson syndrome. (A, B) Fundus photos of the right and left eyes showing a tessellated fundus, optic disc changes similar to Patient 1, avascular peripheral retina, aberrant course of temporal arcades, and straightening of nasal retinal vessels. (C, D) Fluorescein angiography of both eyes showing, in addition to the vascular changes described clinically, the ischemic peripheral retinal changes.

Figure 2.

Retinal features of a 6-year-old male (Patient 2) with Pierson syndrome. (A, B) Fundus photos of the right and left eyes showing a tessellated fundus, optic disc changes similar to Patient 1, avascular peripheral retina, aberrant course of temporal arcades, and straightening of nasal retinal vessels. (C, D) Fluorescein angiography of both eyes showing, in addition to the vascular changes described clinically, the ischemic peripheral retinal changes.

Retinal and Posterior Segment Features of Nine Patients With Pierson SyndromeRetinal and Posterior Segment Features of Nine Patients With Pierson Syndrome

Table 2:

Retinal and Posterior Segment Features of Nine Patients With Pierson Syndrome

Features of high myopia included tessellated fundus with accompanying optic disc pallor, unidentifiable cup, and abnormal retinal vascular emanation from the disc were observed in all eyes, whereas 12 eyes (75%) had parapapillary chorioretinal atrophy. Two eyes (12.5%) had a superotemporal punched-out chorioretinal atrophy. RRD developed in seven eyes (43.75%) and was total in six eyes (Figures 1D and 1E). Of note, empty vitreous cavity was noted in all vitrectomized eyes. Features of abnormal retinal vascular development were present in all eyes. Avascular peripheral retina and aberrant course of the temporal arcades (ie, starting from the nasal part of the optic disc, coursing nasally before redirecting temporally) was found in 14 eyes (87.5%), and straightened nasal retinal blood vessels were found in 12 eyes (75%). Tortuous retinal blood vessels were observed in three eyes (18.75%). Peripheral retinal neovascularization was observed in two eyes of two patients (Patients 3 and 7), and persistent fetal vasculature was found in one eye (Figures 3 and 4).

Retinal features of the right eye in a 14-year-old male (Patient 3) with Pierson syndrome. (A) Retcam fluorescein angiography (FA) showing mid-peripheral fluorescein leakage superonasally for which laser photocoagulation was performed. (B) Fundus photograph 2 years after laser treatment showing a tessellated fundus, typical optic disc changes with parapapillary atrophy, avascular retina, aberrant course of temporal arcades, and straightening of nasal retinal vessels. Note the laser photocoagulation marks at the superonasal retina. (C) FA of the right eye showing no active retinal neovascularization.

Figure 3.

Retinal features of the right eye in a 14-year-old male (Patient 3) with Pierson syndrome. (A) Retcam fluorescein angiography (FA) showing mid-peripheral fluorescein leakage superonasally for which laser photocoagulation was performed. (B) Fundus photograph 2 years after laser treatment showing a tessellated fundus, typical optic disc changes with parapapillary atrophy, avascular retina, aberrant course of temporal arcades, and straightening of nasal retinal vessels. Note the laser photocoagulation marks at the superonasal retina. (C) FA of the right eye showing no active retinal neovascularization.

Retinal features of a 14-year-old female (Patient 7) with Pierson syndrome. (A, B) Fundus photograph of both eyes showing tessellated fundus, typical optic disc changes, avascular peripheral retina, aberrant course of temporal arcades in both eyes, remnant of persistent fetal vasculature in the right eye, and straightening of nasal retinal vessels with peripheral nasal retinal neovascularization in the left eye. (C) Late-phase fluorescein angiography of the left eye depicting peripheral and posterior dye leakage.

Figure 4.

Retinal features of a 14-year-old female (Patient 7) with Pierson syndrome. (A, B) Fundus photograph of both eyes showing tessellated fundus, typical optic disc changes, avascular peripheral retina, aberrant course of temporal arcades in both eyes, remnant of persistent fetal vasculature in the right eye, and straightening of nasal retinal vessels with peripheral nasal retinal neovascularization in the left eye. (C) Late-phase fluorescein angiography of the left eye depicting peripheral and posterior dye leakage.

Spectral-domain optical coherence tomography (SD-OCT) was properly obtained in only four eyes of two patients (Figure 5) due to technical difficulties because of young age and suboptimal pupil dilation. It showed diffuse retinal thinning, poor lamination of retinal layers, rudimentary foveal pits, and poorly distinguishable photoreceptors layers. Patient 2 demonstrated choroidal thinning in both eyes, which was not noticeable in Patient 4.

Spectral-domain optical coherence tomography (SD-OCT) of both eyes in two patients with Pierson syndrome (Patients 2 and 4). (A, B) SD-OCT foveal cuts in Patient 2 showing diffuse retinal thinning, poor retinal layers lamination, rudimentary foveal pits, poorly distinguishable photoreceptors, and choroidal thinning in both eyes. (C, D) SD-OCT foveal cuts in Patient 4 showing diffuse retinal thinning, poor retinal layers lamination, rudimentary foveal pits, poorly distinguishable photoreceptors, and progressive decrease in choroidal thickness.

Figure 5.

Spectral-domain optical coherence tomography (SD-OCT) of both eyes in two patients with Pierson syndrome (Patients 2 and 4). (A, B) SD-OCT foveal cuts in Patient 2 showing diffuse retinal thinning, poor retinal layers lamination, rudimentary foveal pits, poorly distinguishable photoreceptors, and choroidal thinning in both eyes. (C, D) SD-OCT foveal cuts in Patient 4 showing diffuse retinal thinning, poor retinal layers lamination, rudimentary foveal pits, poorly distinguishable photoreceptors, and progressive decrease in choroidal thickness.

Fundus fluorescein angiography (FFA) was done in 10 eyes of five patients. Five eyes were excluded from FFA analysis due to peripheral retinal laser ablation during RRD repair. FFA revealed retinal nonperfusion that started at a variable distance from the fovea temporally with a smooth transition between the vascular and avascular retina.

Electroretinogram was obtained in three patients (Patients 1, 7, and 8) and showed flat rod responses and marked reduction of cone responses.

Treatment

Seven eyes of five patients presented with or developed RRD during follow-up. The mean age at RRD diagnosis was 7.8 years ± 3.8 years. Four eyes had hand motion (HM) vision on presentation, one eye had 20/400, and there was no record available for two eyes of a patient who presented at young age with bilateral RRD (Patient 6). In one patient with bilateral shallow RD and HM vision in both eyes, the parents declined surgical repair, as the child was able to mobilize. Five eyes of four patients underwent surgical repair. The interventions included pars plana vitrectomy (PPV), lensectomy, scleral buckle, membrane peeling, endolaser around breaks and to the ischemic retina, and silicone oil tamponade. All eyes developed recurrences due to proliferative vitreoretinopathy and required additional procedures. Two procedures were required to achieve reattachment in three eyes, and three procedures were required in the other two eyes. Among two eyes of two patients who developed retinal neovascularization (Patients 3 and 7), scatter laser photocoagulation was performed in Patient 3 only (Figure 3), who had an RRD in the contralateral eye. Watchful observation was chosen in Patient 7; both eyes had no further complications and were stable during the follow-up time.

Discussion

This study describes the retinal features in Pierson syndrome. Typical retinal findings in Pierson syndrome are features of high myopia and incomplete retinal vascular development. Abnormal photoreceptor function was found on electrophysiological testing. The high myopia and incomplete retinal vascular development can lead to RRD and retinal neovascularization. Our results indicate that recognition of the characteristic retinal features of high myopia and abnormal retinal vascularization warrants referral of patients manifesting these retinal features for further nephrological evaluation, especially in patients with undocumented renal function or those who cannot be assessed for microcoria due to previous intraocular surgeries.

Pierson et al.1 first described two siblings with a complex oculorenal disorder in 1963. Later, the genetic defect was mapped to the LAMB2 gene,3 which encodes a B2 chain-containing laminin found in various ocular structures including intraocular ciliary and pupillary muscles, retinal photoreceptors, outer plexiform layer, retinal vasculature, and internal limiting membrane (ILM).2,8,9

The presence of high myopia in our cohort is consistent with the previous reports.11,13,14 The high axial length (26.59 mm ± 0.99 mm) and myopic retinal changes are consistent with high axial myopia. In one study, injection of intraocular collagenase in chick embryos disturbed the ILM and caused progressive ocular enlargement, which was haltered by ILM reconstruction using laminin.16 This may explain the development of high axial myopia in Pierson syndrome, which might be related to the defective ILM during eye development in a mechanism similar to axial eye enlargement in Knobloch syndrome.16

Retinal detachment was described in previous reports of Pierson syndrome.11–13,15 Although it is known that high myopia can lead to RRD,17 it is possible that laminin β2, which surrounds retinal pigment epithelium and the apical surfaces of neuroepithelial retina,18 plays a role in proper attachment of the retina15 similar to the role of laminin 5 in dermo-epidermal junction. Also, the presence of avascular retina noted in this study predisposes these eyes to retinal breaks. Mahoney et al.12 described a Mennonite family with H147R mutation in the LAMB2 gene in which the major ocular findings included retinal detachment and retinal dystrophy with normal anterior segment. Four eyes of three patients (aged 8 years, 10 months, and 1 year, respectively) developed RRD, in which three eyes of two patients (Patients 1 and 3) were repaired with scleral buckling, PPV, membrane peeling, and silicone oil injection. In the first patient who developed bilateral total RD, the retina was attached in one eye with vision 20/150 and detached in the other eye. In the third eye, which had shallow RD, the retina was attached with vision of 20/300. Our patients who developed RD were older in age (4 to 18 years old), and a similar surgical approach was done with the addition of endolaser around the breaks and to the peripheral ischemic retina. Recurrent RD due to proliferative vitreoretinopathy was more frequent in our study (five out of five eyes). All five eyes had subsequent retinal repairs that resulted in retinal reattachment in three eyes, whereas two eyes required a third procedure, which resulted in retinal reattachment in both eyes.

Pierson syndrome patients exhibit features of abnormal retinal vascular development. It results in a posterior form of persistent fetal vasculature phenotype.10,11 Abnormal vascular development results in peripheral retinal nonperfusion, dragged retinal vessels, aberrant course of temporal arcades, dilated engorged retinal vessels, and retinal neovascularization. We are unaware of previous studies that have reported retinal neovascularization in Pierson syndrome. Abnormal retinal vascular development in Pierson syndrome might be related to laminin deficiency in the ILM.19,20 Laminins are believed to control astrocytes migration from the optic nerve21 and differentiation within the ILM. Normal astrocytes migration and differentiation within the ILM facilitate vascular endothelial cells migration.22,23 Disruption of laminin, which is a major component of ILM, in turn hampers the progression of retinal vascular maturation.24

Despite the evident features of abnormal vascular maturation on clinical examination, FFA plays an important role in localizing the vascular-avascular border and demonstrating late hyperfluorescence at the border to detect leakage from possible neovascularization. If neovascularization was suspected at the edge of a peripheral ischemic retina, scatter laser photocoagulation might be a reasonable option, although observation can also be considered.

SD-OCT in Pierson syndrome showed features consistent with high myopia,25 including diffuse retinal thinning, poor inner retinal layers lamination, and rudimentary foveal pits. These findings share some similarities with Knobloch syndrome but without the vitreoretinal interface abnormalities frequently seen in Knobloch syndrome.26 Characterization of photoreceptor changes was challenging because of poor differentiation of outer retinal layers in SD-OCT. The choroidal thinning in both eyes of Patient 2, as well as progressive choroidal thinning toward the optic disc in Patient 4, are also consistent with high myopia. Electrophysiological testing in three of our patients showed flat rod responses with markedly reduced cone responses, which can be interpreted as rod-cone dystrophy, although such poor responses might be aggravated by retinal ischemia. Impaired rod responses were also found in animal studies27 as laminin B2 promotes photoreceptor development and differentiation.27–29 Electrophysiological testing results were not described in detail in previous studies to compare our results with. The cone-rod dystrophy interpretation in one of the cases in the family reported by Mahoney et al.12 indicated that photoreceptor functions were impaired.

This study has several limitations, including the retrospective design; limited number of patients; and the unavailability of genetic testing, refraction, and axial length data in some patients. The unavailability of proper SD-OCT cuts and electrophysiological testing in some patients limited the evaluation of photo-receptors in this cohort.

In conclusion, this study suggests that combined features of high axial myopia with incomplete peripheral vascular maturation characterize the posterior segment in Pierson syndrome. Careful posterior segment examination in these patients is also essential to detect RRD or retinal neovascularization.

References

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Demographic and Anterior Segment Features of Nine Patients With Pierson Syndrome

PatientGenderRenal DisorderMutationFollow-Up Duration (Months)EyeBCVA on PresentationBCVA on Last Follow-UpCycloplegic RefractionAxial Length (mm)Anterior Segment
1FemaleCNSc.4573+1G>A54R20/20020/200−24.5027.12Featureless iris, microcoria
LHM20/25+8.0024.23Featureless iris, microcoria, Aphakia
2MaleCNSc.4573+1G>A54R20/20020/100−20.00N/AMicrocoria
L20/20020/100−20.00N/AMicrocoria
3MaleCNS with ESRD, Renal transplantation at age of 6N/A60RHMLPN/A25.49Microcoria
L20/8020/200N/A25.31Microcoria, Aphakia
4FemaleCNS with ESRDN/A12R20/12520/200−18.00N/AMicrocoria
L20/30020/300−18.50N/AMicrocoria
5MaleCNS with ESRDN/A12RHMHMN/A19.72Microcoria
LHMHMN/A19.89Microcoria
6FemaleCNS with ESRD, renal transplantation at age of 4c.416T>C24RN/AFixating and followingN/AN/AAphakia
LN/ANot fixating and not followingN/AN/AAphakia
7FemaleProteinuriac.4573+1G>A6R3/20020/400−2.5025.81Pseudophakia
L20/30020/300−2.0026.54Pseudophakia
8MaleProteinuriac.4573+1G>A6RNLPNLPN/AN/APhthisis
L20/16020/160−3.5028.15Pseudophakia
9FemaleCNS with ESRD, on peritoneal dialysisc.970T>C17L20/400LPN/A24.87Microcoria

Retinal and Posterior Segment Features of Nine Patients With Pierson Syndrome

PatientEyeMyopic Fundus FeaturesFeatures of Halted VascularizationRetinal DetachmentTreatmentOutcome
1Rtessellated fundus, superotemporal punched-out chorioretinal atrophy, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Straightened nasal vessels, aberrant course of temporal arcades, avascular peripheral retinaNoneNoneN/A
Ltessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Straightened nasal vessels, aberrant course of temporal arcades, avascular peripheral retinatotal RRD1-SB +PPL + PPV + MP, +360° laser + SO, 2- PPV + MP + SOAttached retina
2Rtessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Straightened nasal vessels, aberrant course of temporal arcades, avascular peripheral retinaNoneNoneN/A
Ltessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Straightened nasal vessels, aberrant course of temporal arcades, avascular peripheral retinaNoneNoneN/A
3Rtessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Straightened nasal vessels, aberrant course of temporal arcades, avascular peripheral retinatotal RRD1- SB +PPL + PPV + MP, +360° laser + SO, 2-PPV + MP + SO, 3-PPV + MP + SOAttached retina
Ltessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Straightened nasal vessels, aberrant course of temporal arcades, avascular peripheral retina with superonasal neovascularization.NoneScatter laser photocoagulation to the avascular retinaRegressed retinal neovascularization
4Rtessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Straightened nasal vessels, aberrant course of temporal arcades, peripheral avascular retinaNoneNoneN/A
Ltessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Straightened nasal vessels, aberrant course of temporal arcades, peripheral avascular retinaNoneNoneN/A
5Rtessellated fundus, optic disc pallor, abnormal vascular emanation from the disc.Tortuous retinal blood vesselsTotal RRDNoneDetached retina
Ltessellated fundus, optic disc pallor, abnormal vascular emanation from the disc.Tortuous retinal blood vesselsTotal RRDNoneDetached retina
6Rtessellated fundus, optic disc pallor, abnormal vascular emanation from the disc.Aberrant course of temporal arcades, avascular peripheral retinaTotal RRD1-SB+PPL+PPV+MP+360° laser+ SO, 2- PPV + MP + GasAttached retina
Ltessellated fundus, optic disc pallor, abnormal vascular emanation from the disc.Aberrant course of temporal arcades, avascular peripheral retinaTotal RRD1- SB+PPL+PPV+MP+ 360° laser+ SO, 2- PPV + MP + SO, 3- PPV + MP + SOAttached retina
7Rtessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Persistent fetal vasculature, straightened nasal vessels, aberrant course of temporal arcades, avascular peripheral retinaNoneNoneN/A
Ltessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Straightened nasal vessels, aberrant course of temporal arcades, avascular peripheral retina with nasal neovascularization.NoneNoneN/A
8Ltessellated fundus, optic disc pallor, abnormal vascular emanation from the disc.Persistent fetal vasculature, straightened nasal vessels, aberrant course of temporal arcades and avascular peripheral retinaNoneNoneN/A
9LTessellated fundus, optic disc pallor with parapapillary atrophy, abnormal vascular emanation from the disc.Avascular retinal periphery, tortuous retinal blood vessels, persistent fetal vasculature, straightened peripheral vasculatureInferior RRD macula off1-SB + PPV + MP + SO, 2-PPV + MP + SOAttachedretina
Authors

From Vitreoretinal Division, King Khalid Eye Specialist Hospital, Riyadh, Saudi Arabia (AAT, MM, IT, YA, SMA); Ophthalmology Department, King Faisal University, Alhasa, Saudi Arabia (AAT); Ophthalmology Department, Prince Mohammed Medical City, AlJouf, Saudi Arabia (MM); the Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia (MAA); Retina and Vitreous of Texas, Houston, Texas (EC); the Department of Ophthalmology, Houston Methodist Hospital, Houston, Texas (EC); and the Department of Ophthalmology, Baylor College of Medicine, Houston, Texas (EC).

Supported by the College of Medicine Research Center, Deanship of Scientific Research, King Saud University.

Drs. AlTaisan and Magliyah contributed equally to this manuscript as co-first authors.

The authors report no relevant financial disclosures.

Address correspondence to Sulaiman M. Alsulaiman, MD, Vitreoretinal Division, King Khaled Eye Specialist Hospital, P.O. Box 7191, Riyadh 11462, Saudi Arabia; email: ss_md@hotmail.com.

Received: March 24, 2020
Accepted: September 10, 2020

10.3928/23258160-20201104-03

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