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

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.

Automated summary

Patients with TULP1-related retinal dystrophy can exhibit a distinctive retinopathy characterized by a unique pattern of macular degeneration and periarteriolar vascular pigmentation.