Bilateral giant macular holes: A rare manifestation of Alport syndrome.

Abstract excerpt

PURPOSE:: Alport syndrome is a rare condition characterized by the clinical triad of nephritic syndrome, sensorineural deafness, and ophthalmological alterations. Herein, we present a rare case of a patient diagnosed with Alport syndrome and bilateral giant macular holes. CASE DESCRIPTION:: A 40-year-old woman with a previously unreported mutation in the COL4A4 gene suggestive of autosomal-recessive Alport...

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