Retinal Degeneration in an Adult With Long–Chain 3–Hydroxy Acyl–CoA Dehydrogenase Deficiency

Abstract

Abstract: : Purpose: To report the first case of an adult with long–chain 3–hydroxy acyl–CoA dehydrogenase deficiency and vision loss from retinal degeneration. Methods: A case report of the oldest living individual with long–chain 3–hydroxy acyl–CoA dehydrogenase deficiency. Results: A 19 yo male presented with progressive loss of vision for 14 yrs. Visual acuity was 20/150 OU. Funduscopic exam revealed a large area of chorioretinal atrophy in the posterior pole OU. Visual field testing showed a large dense central scotoma OU. ERG testing revealed marked reduction in amplitude in both eyes under photopic and scotopic conditions consistent with rod/cone degeneration. Conclusions: Individuals with 3–hydroxy acyl–CoA dehydrogenase deficiency who survive to adulthood can develop a progressive form of retinal degeneration leading to loss of central vision and a large central scotoma in both eyes.

Keywords: clinical (human) or epidemiologic studies: natural history • retinal degenerations: hereditary • retina