A novel RLBP1 gene mutation associated to a flecked retina syndrome

Mohamad Issa; Georges Sukkarieh; Sebastien Bruneau; Ramin Tadayoni

doi:10.1097/ICB.0000000000001574

A novel RLBP1 gene mutation associated to a flecked retina syndrome

Retin Cases Brief Rep. 2024 Mar 8. doi: 10.1097/ICB.0000000000001574. Online ahead of print.

Authors

Mohamad Issa^{1

2}, Georges Sukkarieh¹, Sebastien Bruneau¹, Ramin Tadayoni^{1

2}

Affiliations

¹ Retina department, Fondation Adolphe de Rothschild Hospital, Paris, France.
² Ophthalmology department, Université Paris Cité, AP-HP, Hôpital Lariboisière, Paris, France.

PMID: 38470931
DOI: 10.1097/ICB.0000000000001574

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.