期刊
OPHTHALMIC GENETICS
卷 43, 期 2, 页码 277-281出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2021.2010769
关键词
TULP1; retinal dystrophy; macular degeneration
Patients with TULP1-related retinal dystrophy can exhibit a distinctive retinopathy characterized by a unique pattern of macular degeneration and periarteriolar vascular pigmentation.
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.
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