First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.

ABSTRACT:

Background

Severe congenital ophthalmological malformations and glaucoma might be an important occasional feature in patients with Coffin-Siris syndrome (CSS), especially Coffin-Siris syndrome 9 (CSS9, OMIM #615866) caused by SOX11 mutation. Recently, primary (open-angle) glaucoma was described in two children with the most common form of Coffin-Siris syndrome, CSS1 (OMIM #135900) by ARID1B (AT-rich interaction domain-containing protein 1B) gene mutation. In this article, we present the first report of glaucoma with Coffin-Siris syndrome 9 as well as the first report of secondary glaucoma with any form of Coffin-Siris syndrome. These findings indicate that secondary glaucoma is an occasional finding in patients with Coffin-Siris syndrome.

Case presentation

A child with secon

SUBMITTER: Diel H 

PROVIDER: S-EPMC7802219 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature