Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in LRP5 and TSPAN12.
J Vitreoretin Dis
; 8(4): 457-461, 2024.
Article
em En
| MEDLINE
| ID: mdl-39148564
ABSTRACT
Purpose:
To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course.Methods:
A case was evaluated.Results:
A 3-year-old boy presented with severe onset of FEVR, with a subhyaloid hemorrhage in 1 eye and tractional retinal detachment (TRD) in the fellow eye. Aggressive treatment with retinal photocoagulation and repeated injections of intravitreal bevacizumab resulted in stability of the retinal disease. Lens-sparing vitrectomy was performed for the TRD. The treatment effect was durable, and the patient retained useful vision in the better eye at 19 years of age. A subsequent genetic analysis showed 2 novel heterozygous missense mutations in LRP5 and TSPAN12.Conclusions:
The presence of 2 novel mutations associated with severe FEVR identified in our patient is in agreement with in vitro studies showing that a more severe reduction in Norrin/ß-catenin signal activity occurs with the combination of 2 mutations.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
J Vitreoretin Dis
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Singapura