Titre
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Bacci, G.M.
Auteure/Auteur
Donati, M.A.
Auteure/Auteur
Pasquini, E.
Auteure/Auteur
Munier, F.
Auteure/Auteur
Cavicchi, C.
Auteure/Auteur
Morrone, A.
Auteure/Auteur
Sodi, A.
Auteure/Auteur
Murro, V.
Auteure/Auteur
Garcia Segarra, N.
Auteure/Auteur
Defilippi, C.
Auteure/Auteur
Bussolin, L.
Auteure/Auteur
Caputo, R.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1755-3768
Statut éditorial
Publié
Date de publication
2017-12
Volume
95
Numéro
8
Première page
e776
Dernière page/numéro d’article
e782
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article ; Multicenter Study
Publication Status: ppublish
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.
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.
Sujets
PID Serval
serval:BIB_2A53C5820589
PMID
Date de création
2017-05-16T15:57:26.993Z
Date de création dans IRIS
2025-05-20T14:23:01Z