BACKGROUND: 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. METHODS: A case report of a woman with large bilateral macular holes who underwent anatomically successful macular hole surgery in one eye. RESULTS: 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. CONCLUSION: 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.
BACKGROUND: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. METHODS: A case report of a woman with large bilateral macular holes who underwent anatomically successful macular hole surgery in one eye. RESULTS: 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. CONCLUSION: 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.