{Reference Type}: Journal Article
{Title}: TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.
{Author}: Al-Hindi H;Chauhan MZ;Sanders R;Samarah H;DeBenedictis M;Traboulsi E;Uwaydat SH;
{Journal}: Ophthalmic Genet
{Volume}: 0
{Issue}: 0
{Year}: Dec 2021 5
{Factor}: 1.274
{DOI}: 10.1080/13816810.2021.2010769
{Abstract}: <B>UNASSIGNED: </B>To report on two rare and one novel TULP1 pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration.<BR><B>UNASSIGNED: </B>Case report.<BR><B>UNASSIGNED: </B>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).<BR><B>UNASSIGNED: </B>Patients with TULP1-related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.