Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss

PURPOSE: To describe in detail the retinal structure and function of a group of patients with cobalamin C (cblC) disease. METHODS: Patients (n = 11, age 4 months to 15 years) with cblC disease (9/11, early onset) diagnosed by newborn screening underwent complete ophthalmic examinations, fundus photo...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Bonafede, Lucas, Ficicioglu, Can H., Serrano, Leona, Han, Grace, Morgan, Jessica I. W., Mills, Monte D., Forbes, Brian J., Davidson, Stefanie L., Binenbaum, Gil, Kaplan, Paige B., Nichols, Charles W., Verloo, Patrick, Leroy, Bart P., Maguire, Albert M., Aleman, Tomas S.
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2015
Assuntos:
Retina
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4682491/
https://ncbi.nlm.nih.gov/pubmed/26658511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-17857
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