%0 Journal Article %T TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases. %A Al-Hindi H %A Chauhan MZ %A Sanders R %A Samarah H %A DeBenedictis M %A Traboulsi E %A Uwaydat SH %J Ophthalmic Genet %V 0 %N 0 %D Dec 2021 5 %M 34865612 %F 1.274 %R 10.1080/13816810.2021.2010769 %X UNASSIGNED: To report on two rare and one novel TULP1 pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration.
UNASSIGNED: Case report.
UNASSIGNED: 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).
UNASSIGNED: Patients with TULP1-related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.