Abstract
Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis pigmentosa and Stargardt-like macular dystrophy, in whom we identified a PROM1 mutation. Methods: A custom gene panel consisting of 119 inherited retinal dystrophies (IRD)-genes was applied in the two affected individuals of this family and sequenced using the Illumina´s NextSeq500 platform. Results: The analysis of the resulting data allowed us to identify the pathogenic PROM1 mutation c.1117C>T (p.Arg373Cys) as the primary cause of the disease in both patients. No additional variants contributing to the extent of retinal dysfunction were detected. Conclusion: The variable expressivity of the detected PROM1 mutation is the most likely responsible for the intrafamilial phenotypic variability observed in this family. Screening of this mutation should be considered in patients with compatible clinical manifestations, especially when accompanied by an autosomal dominant family history.
Highlights
Prominin-1 (PROM1), known as CD133, is a cholesterol-binding protein that is selectively associated with plasma membrane protrusions
Autosomal dominant Stargardt-like macular dystrophy is one of the early onset macular dystrophies characterized by a progressive loss of central vision and atrophy of the retinal pigment epithelium (RPE)
We here report a Spanish family, comprising an affected mother and daughter, respectively, diagnosed with retinitis pigmentosa and Stargardt-like macular dystrophy, in whom we identified a PROM1 mutation
Summary
Prominin-1 (PROM1), known as CD133, is a cholesterol-binding protein that is selectively associated with plasma membrane protrusions. PROM1 is concentrated in the photoreceptor outer segment disc membranes and its dysfunction may cause serious visual impairment. Mutations in PROM1 are associated with heredi-. Macular dystrophies are the leading cause of visual impairment leading to irreversible blindness in the development world. Autosomal dominant Stargardt-like macular dystrophy is one of the early onset macular dystrophies characterized by a progressive loss of central vision and atrophy of the retinal pigment epithelium (RPE). Clinical features include progressive loss of central vision, minimal to no color vision defects, and no significant. We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis pigmentosa and Stargardt-like macular dystrophy, in whom we identified a PROM1 mutation
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