A novel RLBP1 gene mutation associated to a flecked retina syndrome.
Retin Cases Brief Rep
; 2024 Mar 08.
Article
em En
| MEDLINE
| ID: mdl-38470931
ABSTRACT
PURPOSE:
To present an unusual fleck retina condition associated to a novel RLBP1 gene mutation.Methods/Results:
A 25-year old male presented flecks on fundoscopic examination. Clinical presentation, multimodal imaging and ERG were compatible with the diagnosis of benign familial fleck retina. Genetic analysis detected an RLBP1 gene, a gene commonly associated with more severe retinal disease.CONCLUSION:
Flecked retina syndromes and other genetic retinal diseases have a complex genotype-phenotype relation and need further research for their pathophysiology to be fully understood.
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Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article