Abstract
Alport syndrome, an X-linked disease, includes progressive hematuric nephritis leading to renal failure, hearing loss, and ocular changes including macular holes. Females have a more variable systemic and ophthalmic course compared to males. Macular holes have been described mostly in males, but not with therapeutic attempts. A case report of a woman with large bilateral macular holes who underwent anatomically successful macular hole surgery in one eye. A 30-year-old woman with a 9-year history of decreased vision, probably due to bilateral macular holes, complained of progressive visual loss. Visual acuity was 20/400 in the right eye and 20/800 in the left. Optical coherence tomography showed large macular holes, measuring 1350 μm in the right eye and 2050 μm in the left. Visual acuity improved to 20/80 after macular hole surgery in the right eye using standard techniques. Abnormal collagen synthesis may account for many findings in Alport syndrome. Its role in macular hole pathogenesis may be to accelerate passage of fluid through a structurally abnormal Bruch membrane yielding microcystic cavities which may coalesce and rupture, or due to potentiated vitreoretinal traction at the vitreoretinal interface. Macular hole surgery may benefit selected patients.
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