Article
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Acta ophthalmologica - 1 Dec 2017
Bacci Giacomo M, Donati Maria A, Pasquini Elisabetta, Munier Francis, Cavicchi Catia, Morrone Amelia, Sodi Andrea, Murro Vittoria, Garcia Segarra Nuria, Defilippi Claudio, Bussolin Leonardo, Caputo Roberto
Abstract excerpt
PURPOSE: To describe the retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused by mutations in the MMACHC gene, using spectral domain optical coherence tomography (SD-OCT). METHODS: Young patients (n = 11, age 0-74 months) with cblC disease, detected by newborn screening or clinically diagnosed within 40 days of life, underwent molecular analysis and...
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