Background and objective: The aim of the study was to determine optical coherence tomography angiography (OCTA) findings and to identify mutations in the RS1 gene in a three-generation family with X-linked juvenile retinoschisis (XLRS).
Patients and methods: Clinical and genetic assessments were performed in 12 family members. OCTA was performed at baseline (12 members including cases and carriers) and after acetazolamide administration (three cases). Twenty healthy subjects (20 eyes, controls) were chosen for comparison. Molecular genetic analysis of the RS1 gene was performed in all family members.
Results: Deep capillary plexus density was reduced in cases compared with controls (P < .01) and was negatively related with retinal thickness (P < .05). After treatment, retinal thickness decreased (P < .05) and deep capillary plexus density increased (P < .05) in cases. In three cases and in four carriers, p.Arg197 His mutation was found.
Conclusion: OCTA shows reduced macular deep vessel density in patients with XLRS probably related to vessel displacement and disruption due to schitic cysts. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e20-e31.].
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