Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.
J Neuroophthalmol
; 41(3): e363-e365, 2021 Sep 01.
Article
em En
| MEDLINE
| ID: mdl-33110010
ABSTRACT
ABSTRACT Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by hamartomas in multiple organs. The most frequent and best-known ocular manifestation in TSC is the retinal hamartoma. Less frequent ocular manifestations include punched out areas of retinal depigmentation, eyelid angiofibromas, uveal colobomas, papilledema, and sector iris depigmentation. In this article, we report 2 patients carrying known pathogenic variants in the TSC2 gene who exhibited an atypical, unilateral, iris coloboma associated with localized areas of retinal dysembryogenesis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Retina
/
Esclerose Tuberosa
/
Acuidade Visual
/
Coloboma
/
Iris
/
Tomografia de Coerência Óptica
/
Fóvea Central
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Neuroophthalmol
Assunto da revista:
NEUROLOGIA
/
OFTALMOLOGIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Itália