Format

Send to

Choose Destination
Indian J Ophthalmol. 2019 Jul;67(7):1226-1229. doi: 10.4103/ijo.IJO_1407_18.

Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma.

Author information

1
Dr Rajendra Prasad Centre for Ophthalmic Sciences, Laboratory of Cuto-Molecular Genetics, All India Institute of Medical Sciences, New Delhi, India.
2
Department of Anatomy, Laboratory of Cuto-Molecular Genetics, All India Institute of Medical Sciences, New Delhi, India.

Abstract

A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 of the RS1 gene in three members of the family.

KEYWORDS:

Angle-closure glaucoma; RS1 mutation; X-linked retinoschisis; dorzolamide; foveoschisis

PMID:
31238476
DOI:
10.4103/ijo.IJO_1407_18
Free full text

Supplemental Content

Full text links

Icon for Medknow Publications and Media Pvt Ltd
Loading ...
Support Center