Abstract：
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.
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.
摘要：
■报告两名患者中两种罕见和一种新的TULP1致病变异，这些变异与先前未表征的视网膜变性表型有关。
■病例报告。
■一名4岁和一名19岁女性出现视力下降和双侧牛眼黄斑病变。在这两个病人中，注意到血管周围视网膜变性的独特模式。视网膜电描记术与锥杆营养不良一致。序列分析确定了TULP1基因c.1087G>A的致病变异，p.（Gly363Arg）；c.1568G>A，p.(Cys523Tyr)；和c.821delA，p.（Lys274ArgfsTer36）。
■患有TULP1相关视网膜营养不良的患者可以有独特的视网膜病变，具有独特的黄斑变性和小动脉周围血管色素沉着模式。
■病例报告。
■一名4岁和一名19岁女性出现视力下降和双侧牛眼黄斑病变。在这两个病人中，注意到血管周围视网膜变性的独特模式。视网膜电描记术与锥杆营养不良一致。序列分析确定了TULP1基因c.1087G>A的致病变异，p.（Gly363Arg）；c.1568G>A，p.(Cys523Tyr)；和c.821delA，p.（Lys274ArgfsTer36）。
■患有TULP1相关视网膜营养不良的患者可以有独特的视网膜病变，具有独特的黄斑变性和小动脉周围血管色素沉着模式。
