Retinal dystrophies and variants in PRPH2 / Distrofias retinianas e variantes em PRPH2
Arq. bras. oftalmol
;
82(2): 158-160, Mar.-Apr. 2019. graf
Article
in English
| LILACS
| ID: biblio-989393
ABSTRACT
ABSTRACT - This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.
RESUMO
RESUMO - Este relato apresenta três pacientes com diagnóstico de distrofias maculares com mutações no PRPH2. Periferina 2, a proteína deste gene, é importante na morfogênese e estabilização do segmento externo dos fotorreceptores. Deficiências de periferina 2 causam apoptose celular. Além disso, variantes patogênicas no PRPH2 estão relacionadas a diferentes doenças, como distrofia padrão, distrofia padrão em asa de borboleta, distrofia central areolar, distrofia viteliforme do adulto, retinose pigmentar, distrofia de cones e bastonetes, retinite punctata albscens, amaurose congênita de Leber, fundus flavimaculatus e doença de Stargardt.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Retinal Dystrophies
/
Peripherins
/
Macular Degeneration
/
Mutation
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
English
Journal:
Arq. bras. oftalmol
Journal subject:
Ophthalmology
Year:
2019
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Instituto Suel Abujamra/BR
/
Universidade Federal de São Paulo/BR
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