H Al-Hindi1, M Z Chauhan1, R Sanders1, H Samarah2, M DeBenedictis3, E Traboulsi3, S H Uwaydat1. 1. Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA. 2. Herbert Wertheim College of Medicine, Florida International University, Miami, Florida, USA. 3. Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Abstract
PURPOSE: To report on two rare and one novel TULP1 pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration. METHODS: Case report. RESULTS: A 4 year-old and a 19 year-old female presented with reduced vision and bilateral bull's eye maculopathy. In both patients, a unique pattern of perivascular retinal degeneration was noted. Electroretinography was consistent with a cone-rod dystrophy. Sequence analysis identified pathogenic variants in the TULP1 gene c.1087 G > A, p.(Gly363Arg); c.1568 G > A, p.(Cys523Tyr); and c.821delA, p.(Lys274ArgfsTer36). CONCLUSION: Patients with TULP1-related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.
PURPOSE: To report on two rare and one novel TULP1 pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration. METHODS: Case report. RESULTS: A 4 year-old and a 19 year-old female presented with reduced vision and bilateral bull's eye maculopathy. In both patients, a unique pattern of perivascular retinal degeneration was noted. Electroretinography was consistent with a cone-rod dystrophy. Sequence analysis identified pathogenic variants in the TULP1 gene c.1087 G > A, p.(Gly363Arg); c.1568 G > A, p.(Cys523Tyr); and c.821delA, p.(Lys274ArgfsTer36). CONCLUSION: Patients with TULP1-related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.