%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.