Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
OCA
TYR
Trios-WES
VEP
albinism
foveal hypoplasia
good BCVA
hypomorphic allele
misrouting
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
15 Jul 2022
15 Jul 2022
Historique:
received:
14
05
2022
revised:
12
07
2022
accepted:
13
07
2022
entrez:
27
7
2022
pubmed:
28
7
2022
medline:
29
7
2022
Statut:
epublish
Résumé
Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients can show significant clinical variability; some individuals can present with only mild depigmentation and subtle ocular changes. Here, we provide a retrospective review of the standardized clinical charts of patients firstly addressed for evaluation of foveal hypoplasia and slightly subnormal visual acuity, whose diagnosis of albinism was achieved only after extensive phenotypic and genotypic characterization. Our report corroborates the pathogenicity of the two common
Identifiants
pubmed: 35887175
pii: ijms23147825
doi: 10.3390/ijms23147825
pmc: PMC9317384
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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