TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.

H Al-Hindi, M Z Chauhan, R Sanders, H Samarah, M DeBenedictis, E Traboulsi, S H Uwaydat

Ophthalmic genetics 2022 Apr

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To report on two rare and one novel TULP1 pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration. Case report. 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). Patients with TULP1-related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.

Citation

H Al-Hindi, M Z Chauhan, R Sanders, H Samarah, M DeBenedictis, E Traboulsi, S H Uwaydat. TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases. Ophthalmic genetics. 2022 Apr;43(2):277-281