Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients-Reference-Cited by-同舟云学术

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients

Published:2017-05-08 Issue:8 Volume:95 Page:e776-e782
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Bacci Giacomo M.¹,Donati Maria A.²,Pasquini Elisabetta²,Munier Francis³,Cavicchi Catia⁴,Morrone Amelia⁴⁵,Sodi Andrea⁶,Murro Vittoria⁶,Garcia Segarra Nuria⁷,Defilippi Claudio⁸,Bussolin Leonardo⁹,Caputo Roberto¹

Affiliation:

1. Pediatric Ophthalmology Unit; Meyer Children's Hospital; University of Florence; Florence Italy

2. Metabolic Disease and Newborn Screening Clinical Unit; Neuroscience Department; Meyer Children's Hospital; Florence Italy

3. Retinoblastoma Clinics; Oculogenetics Unit; Jules-Gonin Eye Hospital; Lausanne Switzerland

4. Paediatric Neurology Unit and Laboratories; Neuroscience Department; Meyer Children's Hospital; Florence Italy

5. Neuroscience, Psychology, Pharmacology and Child Health Department; University of Florence; Florence Italy

6. Neuroscience Department; Eye Clinic; University of Florence; Florence Italy

7. Center for Molecular Disease; University Hospital of Vaudois; Lausanne Switzerland

8. Diagnostic Imaging Department; Meyer Children's Hospital; Florence Italy

9. Department of Pediatric Neuroanesthesia and Neuro Intensive Care Unit (ICU); Meyer Children's Hospital; Florence Italy

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/aos.13441/fullpdf

Reference22 articles.

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2. Cobalamin C deficiency shows a rapidly progressing maculopathy with severe photoreceptor and ganglion cell loss;Bonafede;Invest Ophthalmol Vis Sci,2015

3. Ophthalmic manifestations and long-term visual outcomes in patients with cobalamin C deficiency;Brooks;Ophthalmology,2016

4. Whole exome sequencing identifies an adult-onset case of methylmalonic aciduria and homocystinuria type C (cblC) with non-syndromic bull's eye maculopathy;Collison;Ophthalmic Genet,2015

5. Clinical presentation and outcome in a series of 88 patients with the cblC defect;Fischer;J Inherit Metab Dis,2014

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