Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome.
Ophthalmic Genet
; 44(3): 281-285, 2023 06.
Article
em En
| MEDLINE
| ID: mdl-35946471
ABSTRACT
BACKGROUND:
Juvenile onset open-angle glaucoma is described as a primary open-angle glaucoma, with an age of onset before 40 years. These patients have a higher prevalence of myopia.PURPOSE:
We describe the phenotype of juvenile onset open-angle glaucoma in a patient with a rare variant in EFEMP1 gene, who was also detected to have Stickler syndrome(STL).METHODS:
Whole exome sequencing (WES) was undertaken in 40 unrelated families where the proband had juvenile onset open-angle glaucoma (JOAG).RESULTS:
Out of these, eight were autosomal dominant, while the rest did not have any other affected first-degree relative. Out of the 8 autosomal dominant JOAG families, MYOC mutations were detected in 3(37.5%) and LTBP2 in 1(12.5%). One family (12.5%) had a rare EFEMP1 sequence variant in both affected father and daughter. The daughter also had high myopia and a pathogenic COL11A1 sequence variant that led to a coincidental diagnosis of STL in her.CONCLUSIONS:
This is a rare association of EFEMP1 and COL11A1 sequence variants in a JOAG patient with STL. The study also reiterates the association of JOAG with EFEMP1, which should be looked for, especially in families with autosomal dominant JOAG.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Glaucoma de Ângulo Aberto
/
Miopia
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
Ophthalmic Genet
Assunto da revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Índia