Acetazolamide in Retinoschisis: A Prospective Study – Corrected Proof

X-linked retinoschisis (XLRS) is the leading cause of hereditary juvenile macular degeneration in males with an estimated prevalence ranging from 1 in 15 000 to 1 in 30 000. It accounts for approximately 5% of all childhood-onset inherited retinal dystrophies. It is caused by mutations in the RS1 gene encoding retinoschisin resulting in schitic changes traversing the retinal layers. Clinical findings include bilateral, cystlike macular changes, and areas of peripheral bullous elevation. Vision is affected progressively with age, leading to poor central vision after the fifth decade of life. Currently, there is no medical treatment available for XLRS.

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