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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Article Synopsis
- Inherited retinal diseases (IRDs) cause people to lose their vision slowly, and there are over 270 genes that can cause these problems.
- One specific gene, RLBP1, leads to different eye disorders depending on changes in that gene, affecting proteins important for seeing.
- Researchers created a method to treat these disorders using gene therapy, and they discovered a new form of the CRALBP protein that could help improve treatments in both humans and mice.
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Gene therapy holds promise for treatment of inherited retinal dystrophies, a group of rare genetic disorders characterized by severe loss of vision. Here, we report up to 3-year pre-specified interim safety and efficacy results of an open-label first-in-human dose-escalation phase 1/2 gene therapy clinical trial in 12 patients with retinal dystrophy caused by biallelic mutations in the retinaldehyde-binding protein 1 (RLBP1) gene of the visual cycle. The primary endpoints were systemic and ocular safety and recovery of dark adaptation.
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