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CASE REPORT
Year : 2019  |  Volume : 67  |  Issue : 7  |  Page : 1226-1229

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


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

Correspondence Address:
Dr. Harathy Selvan
Room No. 494, 4th Floor, Dr.Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi - 110 029
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1407_18

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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.


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