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

Détails

ID Serval
serval:BIB_2A53C5820589
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Périodique
Acta ophthalmologica
Auteur(s)
Bacci G.M., Donati M.A., Pasquini E., Munier F., Cavicchi C., Morrone A., Sodi A., Murro V., Garcia Segarra N., Defilippi C., Bussolin L., Caputo R.
ISSN
1755-3768 (Electronic)
ISSN-L
1755-375X
Statut éditorial
Publié
Date de publication
12/2017
Peer-reviewed
Oui
Volume
95
Numéro
8
Pages
e776-e782
Langue
anglais
Notes
Publication types: Journal Article ; Multicenter Study
Publication Status: ppublish
Résumé
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).
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 complete ophthalmic examination, including fundus photography and SD-OCT. In one case, we also performed fluorescein angiography (FA) and standard electroretinography (ERG).
Molecular analysis of the MMACHC gene fully confirmed cblC disease in nine of 11 patients. Two patients harboured only a single heterozygous pathogenic MMACHC mutation and large unbalanced rearrangements were excluded by array-CGH analysis in both. All patients except two showed a bilateral maculopathy. In general, retinal changes were first observed before one year of age and progressed to a well-established maculopathy. Measurable visual acuities ranged from normal vision, in keeping with age, to bilateral, severe impairment of central vision. Nystagmus was present in six patients. Spectral domain optical coherence tomography (SD-OCT) showed macular thinning with severe alterations in outer, and partial sparing of inner, retinal layers.
Patients affected by cblC disease may frequently show an early onset maculopathy with variable ophthalmoscopic appearance. Spectral domain optical coherence tomography (SD-OCT) broadens the knowledge of subtle retinal alterations during the disease's progression and helps to shed light on the pathological mechanism of maculopathy development.

Mots-clé
Carrier Proteins/genetics, Carrier Proteins/metabolism, Child, Child, Preschool, DNA/genetics, DNA Mutational Analysis, Electroretinography, Female, Homocystinuria/complications, Homocystinuria/genetics, Homocystinuria/metabolism, Humans, Infant, Infant, Newborn, Macula Lutea/pathology, Male, Methylmalonic Acid/urine, Mutation, Ophthalmoscopy, Polymerase Chain Reaction, Proto-Oncogene Proteins c-cbl/genetics, Proto-Oncogene Proteins c-cbl/metabolism, Retinal Diseases/diagnosis, Retinal Diseases/etiology, Retinal Diseases/genetics, Tomography, Optical Coherence, cobalamin C deficiency, maculopathy, optical coherence tomography, photoreceptors
Pubmed
Web of science
Création de la notice
16/05/2017 16:57
Dernière modification de la notice
20/08/2019 13:10
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