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Coexistence of bilateral congenital cataract and unilateral oculodermal melanosis in down syndrome: a case report

Poster Details

First Author: Z.Acar TURKEY

Co Author(s):    D. Guven   M. Demir   B. Dirim   A. Olgun   Y. Sendul  

Abstract Details

Purpose:

To report a case of bilateral congenital cataract presenting with unilateral oculodermal melanosis (ODM) in a patient with Down Syndrome (DS).

Setting:

Sisli Etfal Research and Education Hospital-Istanbul.

Methods:

An 8 month old infant with DS with confirmed genetic analysis has been referred to our clinic with a diagnosis of bilateral cataract. He was also being followed for various cardiac anomalies and hypothyroidia. The patient could follow the light source but further assessment of visual acuity could not be made. Ophthalmic examination of the right eye revealed ODM involving the eyelids and the sclera, a membranous cataract with posterior lenticonus and a choroidal haemangioma on fundoscopy. Left eye also had a posterior lenticonus with a less dense cataract.

Results:

He had undergone bilateral pars plana lensectomy with posterior capsulotomy . His follow up was without problems and he recorded a positive P100 response on the flash VEP. A successful secondary IOL implantation was conducted at age 28 months.

Conclusions:

Congenital cataracts are relatively common in DS but to our knowledge, coexistence of congenital cataract with oculodermal melanosis in DS has not been previously reported in the literature. A case of cataract with ODM in a mongoloid adult has been reported but our case could be considered unique as it is the first one with congenital cataract and ODM in DS.

Financial Disclosure:

NONE

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