Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.
Abnormalities, Multiple
Child, Preschool
Coloboma
/ diagnosis
DNA
/ genetics
DNA Mutational Analysis
Female
Fovea Centralis
/ diagnostic imaging
Humans
Iris
/ abnormalities
Male
Mutation
Retina
/ abnormalities
Tomography, Optical Coherence
/ methods
Tuberous Sclerosis
/ complications
Tuberous Sclerosis Complex 2 Protein
/ genetics
Visual Acuity
Journal
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
ISSN: 1536-5166
Titre abrégé: J Neuroophthalmol
Pays: United States
ID NLM: 9431308
Informations de publication
Date de publication:
01 Sep 2021
01 Sep 2021
Historique:
pubmed:
29
10
2020
medline:
8
1
2022
entrez:
28
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33110010
pii: 00041327-202109000-00054
doi: 10.1097/WNO.0000000000001099
doi:
Substances chimiques
TSC2 protein, human
0
Tuberous Sclerosis Complex 2 Protein
0
DNA
9007-49-2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e363-e365Informations de copyright
Copyright © 2020 by North American Neuro-Ophthalmology Society.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
Références
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