Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome.

Adolescent Cataract / congenital Chromosome Deletion Chromosome Disorders / genetics Chromosomes, Human, Pair 1 Female Humans Mutation

Journal

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
ISSN: 1528-3933
Titre abrégé: J AAPOS
Pays: United States
ID NLM: 9710011

Informations de publication

Date de publication:
12 2021
Historique:
received: 19 04 2021
revised: 28 06 2021
accepted: 16 07 2021
pubmed: 4 9 2021
medline: 18 3 2022
entrez: 3 9 2021
Statut: ppublish

Résumé

We report the case of a 16-year-old girl with 1p36 deletion syndrome, who experienced visual loss in both eyes for 2 months because of lamellar cataracts. Mutations on some 1p36 genes in both experimental models and humans may be associated with cataract. This is the first detailed description of acquired juvenile-onset bilateral cataract with 1p36 deletion.

Identifiants

DOI: 10.1016/j.jaapos.2021.07.003 PMID: 34478844
pubmed: 34478844
pii: S1091-8531(21)00336-0
doi: 10.1016/j.jaapos.2021.07.003
pii:
doi:

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

368-370

Informations de copyright

Copyright © 2021 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Auteurs

Carla Danese (C)

Department of Medicine, Ophthalmology, University of Udine, Udine, Italy.

Silvia Pignatto (S)

Department of Medicine, Ophthalmology, University of Udine, Udine, Italy.

Paolo Lanzetta (P)

Department of Medicine, Ophthalmology, University of Udine, Udine, Italy; Istituto Europeo di Microchirurgia Oculare - IEMO, Udine, Italy. Electronic address: paolo.lanzetta@uniud.it.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Noncongenital juvenile-onset bilateral...
questionsmedicales.fr › Maladies de l'oeil › Maladies du cristallin › Cataracte › Noncongenital juvenile-onset bilateral...
questionsmedicales.fr › Phénomènes génétiques › Ploïdies › Aneuploïdie › Monosomie › Délétion de segment de chromosome › Noncongenital juvenile-onset bilateral...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Noncongenital juvenile-onset bilateral...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes de mammifère › Chromosomes humains › Chromosomes humains 1-3 › Chromosomes humains de la paire 1 › Noncongenital juvenile-onset bilateral...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Noncongenital juvenile-onset bilateral...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Noncongenital juvenile-onset bilateral...