Journal of Pediatric Ophthalmology and Strabismus

Short Subjects 

Cataract as an Additional Sign in CHARGE Syndrome

Beatrix Feigl, MD; Bernd Urlesberger, MD; Wolfgang Anderhuber, MD; Anton Haas, MD

Abstract

INTRODUCTION

The CHARGE association is a congenital, multiple malformation syndrome of unknown cause first described in 1979 by Hall and Hittner.1"4 It may present to the ophthalmologist because coloboma is one of its major findings. The mnemonic CHARGE stands for die major features of this syndrome: coloboma of die eye, congenital heart disease, anomaly choanal atresia, retardation, genital, and ear anomalies.1'5'9 Additional medically significant associated anomalies include unilateral or bilateral facial palsy, renal anomalies, tracheoesophageal fistula, micrognathia, cleft lip, cleft palate, and omphalocele.10 There have to be three major symptoms diat lead to die diagnosis of CHARGE association.

Involvement of the eye is described in 80% of die cases and presents as unilateral or bilateral coloboma of the iris, the retina, the choroid, and die optical nerve.10 In rare cases, micro- and anophdialmos can occur. This article reports a 3-month-old boy who presented with typical findings of die CHARGE syndrome, in addition to cataract formation on the left eye.

CASE REPORT

A 3-month-old boy (46, XY) presented with CHARGE syndrome. Because of prolonged perinatal asphyxia, the child suffered from severe hypoxemic encephalopathy and developed psychomotor retardation. As choanal atresia is an acute emergency situation for the newborn, it was treated immediately. The ear, nose, and throat surgeons had removed the bony plate of choanal atresia by a new approach using a rigid endoscopic technique.11 Several additional surgical procedures also had been performed, such as herniotomy, gastroplication and pyloromyotomy (because of gastroesophageal reflux, hiatal hernia, and pyloric stenosis), and herniotomy and orchidopexy (because of inguinal hernia).

A peripheral facial nerve palsy and a Iagophthalmus were noted in a previous examination report. In follow-up, the signs could not be detected. Evoked otoacoustic emissions excluded deafness. Except for a patent ductus arteriosus, which closed spontaneously, several echocardiography examinations did not show any malformations. Dysmorphic changes including ear anomalies with asymmetry, a wide pinna on die right side, and a clubfoot on the left side were present (Figure 1).

Ophthalmologic inspection revealed uncoordinated eye movements and no fixation to either light or subjects. The pupillary reflex on the left side was difficult to interpret because of coloboma. On the right side, a reduced reflex to light was noted. Moreover, the child presented a defensive reaction when exposed to light or when the right eye was covered. Inspection of the anterior segments revealed a microphthalmos on the left eye with a corneal diameter of 9 mm. The right corneal diameter was normal (12 mm). Further ophthalmologic findings included a total inferior iris coloboma on the left eye, whereas die right iris was unaffected. An additional finding was a cataract on the left eye, which mainly affected the posterior pole (Figure 2). Fundus examination showed an extensive coloboma of die central and nasal retina, the choroid, and die optic nerve in both eyes (Figure 3). Because of coexisting cataract formation, a lensectomy and vitrectomy on the left side was performed.

DISCUSSION

The CHARGE association is a rare syndrome. Only 200 cases of this syndrome with multiple congenital malformations concerning eyes, heart, ears, genitals, psychomotor, and somatic development have been reported previously. The etiology is unknown. The defects might be attributed to arrested development between days 35 and 45 postconception during morphogenesis of various involved organs, eg, the forming of choanae between days 35 and 38 of gestation.10

Bilateral choanal atresia is a life-threatening condition for the newborn and needs acute intervention for creating an adequate airway. Ophthalmologists are involved because of coexisting coloboma of the eye. Colobomas of die eye occur secondary to faulty closure of the embryonic fissure and are most commonly congenital. In retinochoroidial…

INTRODUCTION

The CHARGE association is a congenital, multiple malformation syndrome of unknown cause first described in 1979 by Hall and Hittner.1"4 It may present to the ophthalmologist because coloboma is one of its major findings. The mnemonic CHARGE stands for die major features of this syndrome: coloboma of die eye, congenital heart disease, anomaly choanal atresia, retardation, genital, and ear anomalies.1'5'9 Additional medically significant associated anomalies include unilateral or bilateral facial palsy, renal anomalies, tracheoesophageal fistula, micrognathia, cleft lip, cleft palate, and omphalocele.10 There have to be three major symptoms diat lead to die diagnosis of CHARGE association.

Involvement of the eye is described in 80% of die cases and presents as unilateral or bilateral coloboma of the iris, the retina, the choroid, and die optical nerve.10 In rare cases, micro- and anophdialmos can occur. This article reports a 3-month-old boy who presented with typical findings of die CHARGE syndrome, in addition to cataract formation on the left eye.

CASE REPORT

A 3-month-old boy (46, XY) presented with CHARGE syndrome. Because of prolonged perinatal asphyxia, the child suffered from severe hypoxemic encephalopathy and developed psychomotor retardation. As choanal atresia is an acute emergency situation for the newborn, it was treated immediately. The ear, nose, and throat surgeons had removed the bony plate of choanal atresia by a new approach using a rigid endoscopic technique.11 Several additional surgical procedures also had been performed, such as herniotomy, gastroplication and pyloromyotomy (because of gastroesophageal reflux, hiatal hernia, and pyloric stenosis), and herniotomy and orchidopexy (because of inguinal hernia).

A peripheral facial nerve palsy and a Iagophthalmus were noted in a previous examination report. In follow-up, the signs could not be detected. Evoked otoacoustic emissions excluded deafness. Except for a patent ductus arteriosus, which closed spontaneously, several echocardiography examinations did not show any malformations. Dysmorphic changes including ear anomalies with asymmetry, a wide pinna on die right side, and a clubfoot on the left side were present (Figure 1).

Ophthalmologic inspection revealed uncoordinated eye movements and no fixation to either light or subjects. The pupillary reflex on the left side was difficult to interpret because of coloboma. On the right side, a reduced reflex to light was noted. Moreover, the child presented a defensive reaction when exposed to light or when the right eye was covered. Inspection of the anterior segments revealed a microphthalmos on the left eye with a corneal diameter of 9 mm. The right corneal diameter was normal (12 mm). Further ophthalmologic findings included a total inferior iris coloboma on the left eye, whereas die right iris was unaffected. An additional finding was a cataract on the left eye, which mainly affected the posterior pole (Figure 2). Fundus examination showed an extensive coloboma of die central and nasal retina, the choroid, and die optic nerve in both eyes (Figure 3). Because of coexisting cataract formation, a lensectomy and vitrectomy on the left side was performed.

Figure 1 : Right ear anomaly with wide pinna.

Figure 1 : Right ear anomaly with wide pinna.

Figure 2: Total inferior iris coloboma and cataract formation on the left eye.

Figure 2: Total inferior iris coloboma and cataract formation on the left eye.

Figure 3: Coloboma of the central and nasal retina, the choroid, and the optic nerve on the left eye.

Figure 3: Coloboma of the central and nasal retina, the choroid, and the optic nerve on the left eye.

DISCUSSION

The CHARGE association is a rare syndrome. Only 200 cases of this syndrome with multiple congenital malformations concerning eyes, heart, ears, genitals, psychomotor, and somatic development have been reported previously. The etiology is unknown. The defects might be attributed to arrested development between days 35 and 45 postconception during morphogenesis of various involved organs, eg, the forming of choanae between days 35 and 38 of gestation.10

Bilateral choanal atresia is a life-threatening condition for the newborn and needs acute intervention for creating an adequate airway. Ophthalmologists are involved because of coexisting coloboma of the eye. Colobomas of die eye occur secondary to faulty closure of the embryonic fissure and are most commonly congenital. In retinochoroidial colobomas, the inner layer (sensory retina) usually consists as a membrane of undifferentiated retina that may have blood vessels. The outer layer (retinal pigment epithelium) is absent, and since the choroid is dependent on die retinal pigment epithelium for its development, it also is lacking.12 They occur inferior or inferonasal to die optic disc, may sometimes extend up to the optic disc, or may be seen as isolated defects. Sometimes the colobomatous area can be associated with retinal breaks and retinal detachment. Anteriorly, the chorioretinal defect can extend as far as the iris. Colobomas also can occur in association with chromosomal abnormalities such as trisomy 13 and 18, or other multisystem diseases such as Goldenhar's, Aicardis, Joubert's, or facio-oculo-acoustico-renal syndrome.13

In CHARGE syndrome, autosomal dominant, autosomal recessive, and X-linked recessive forms have been suggested by familial reports, but most cases are sporadic and probably heterogenous. The prognosis is very poor, and approximately 70% of die children die during the first 5 years due to severe heart anomalies. Mental retardation due to hypoxemic encephalopadiy is present in 50% of the cases. Eye symptoms, especially coloboma formations, which are described in 80% of cases, help to identify die syndrome aldiough it is not a necessary diagnostic criterion. Nevertheless, when patients present to an eye clinic for evaluation of coloboma, CHARGE syndrome should be considered. In congenital abnormalities, the combination of cataract and coloboma is not unusual, although a recent study of Berjemo and Martinez-Frias14 reported die association of coloboma and anophdialmia/microphthalmia as well as the association of cataract and anophdialmia/microphthalmia are more specific.

In our case, we found the typical spectrum of malformations without heart affection. When classifying severity of ocular involvement in CHARGE association, cataract may indicate advanced severity. Therefore, cataract may broaden the spectrum of anomalies in CHARGE syndrome.

REFERENCES

1 . Pagon RA. Graham JM Jr, Zonana J, Yong S-L. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981;99:223-227.

2. Warburg M. Ocular coloboma and multiple congenital anomalies: the CHARGE association. Ophthalmic Paediatr Genet. 1983:2:189.

3. Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr. 1979:95:395-398.

4. Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardariona syndrome. J Pediatr Ophthalmol Strabismus. 1981;16:122-128.

5. Chestler RJ, France TD. Ocular findings in CHARGE syndrome: six case reports and a review. Ophthalmology. 1988;95:1613-1619.

6. Lin AE, Chin AJ, Devine W, Park SC, Zackai E. The pattern of cardiovascular malformation in CHARGE association. Am J Dis Child. 1987;141:1010-1013.

7. Asher BF, McGiIl TJI, Kaplan L, et al. Airway complications in CHARGE association. Arch Otolaryngol Head Neck Surg. 1990;116:594-595.

8. Goldson E, Smith AC, Stewart JM. The CHARGE association: how well can they do? Am J Dis Child 1986;140:918-921.

9. Davenport SL, Heftier MA, Thelin JW. CHARGE syndrome: external ear anomalies. Int J Pediatr OtorbinokryngpL 1986:12:137143.

10. Miscellaneous associations. CHARGE syndrome. In: Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 4th ed. San Diego, Calif: University of California; 1988:606-607.

11 . Anderhuber W Stammberger H. Endoscopic surgery of unì- and bilateral choanal atresia. Auris Nasus Larynx. 1997;24:13-19.

12. Pagon RA. Ocular Coloboma. Surv OphthalmoL 1981:25:223-236.

13. Pe er J, Braun JT. Ocular pathology in trisomy 18 (Edwards syndrome). Ophthalmologica. 1986;192:176-178.

14. Berjemo E, Martinez-Frias ML. Congenital eye malformations: clinical analyses of 1,124,654 births in Spain. Am J Med Genet. 1998;75:497-504.

10.3928/0191-3913-20000301-11

Sign up to receive

Journal E-contents