Article
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Ophthalmic genetics - 1 Jan 2015
Collison Frederick T, Xie Yajing Angela, Gambin Tomasz, Jhangiani Shalini, Muzny Donna, Gibbs Richard, Lupski James R, Fishman Gerald A, Allikmets Rando
Abstract excerpt
BACKGROUND: Methylmalonic aciduria and homocystinuria type C (cblC), a disorder of vitamin B12 (cobalamin) metabolism caused by mutations in the MMACHC gene, presents with many systemic symptoms, including neurological, cognitive, psychiatric, and thromboembolic events. Retinal phenotypes, including maculopathy, pigmentary retinopathy, and optic atrophy are common in early onset form of the disease but are rare...
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