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¹M.D. Asistant Professor, Mevlana University Faculty of Medicine, Department of Ophthalmology, Konya/TURKEY
²M.D. Professor, Mevlana University Faculty of Medicine, Department of Ophthalmology, Konya/TURKEY X-linked juvenile retinoschisis (XLRS) is a common cause of hereditary macular degeneration in male children and adolescents. We report a newly diagnosed case of XLRS in an adult patient. A 32-year-old man presented to our clinic with complaint of decrease in visual acuity since childhood. He had no systemic diseases and negative family history. His fundus examination revealed bilateral cystic lesions in the macula. Electroretinogram (ERG) and optical coherence tomography (OCT) images revealed XLRS. We confirmed the diagnosis with genetic analysis which revealed p.Glu72Lys (c.214G>A) mutation in the 4th exon of RS1 gene. We followed our patient with topical dorzolamide hydrochloride three times daily. No improvement was observed over a 1-year follow-up. Diagnosis of XLRS may be difficult in adults with negative family history due to the loss of characteristic macular appearance. Concurrent use of OCT and ERG is helpful in making diagnosis which can be further confirmed by genetic analysis. Keywords : X-linked juvenile retinoschisis, cystoid macular lesion, electroretinogram, optical coherence tomography, genetic analysis