Abstract：
UNASSIGNED: Mutations in the SCAPER gene have previously been reported to be a rare cause of syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). We report a case of syndromic RP caused by a frameshift heterozygous mutation in SCAPER. Our case has a relatively mild ocular phenotype with the presence of cone involvement noted on full field electroretinogram (ffERG) without impacting central or color vision.
UNASSIGNED: A 17-year-old male presented with progressive nyctalopia in both eyes. He underwent ophthalmic examination and multimodal imaging. A complete retinal degeneration panel consisting of 322 genes was used to screen for molecular causes of retinal dystrophy in this patient along with family segregation analysis.
UNASSIGNED: Fundus examination of the proband revealed mild RP phenotype with waxy pallor of optic discs, attenuated retinal arterioles, and single bone spicule like pigmentary change in the mid-periphery bilaterally. Multimodal imaging and ffERG demonstrated a picture of RP with cone dysfunction without impacting central or color vision bilaterally. Examined family members were found to be normal. The proband was found to be heterozygous for two novel frameshift pathogenic variants in SCAPER c.3781del, p. (Val1261Serfs*26), c.868_869del, p. (Glu290Serfs*7) both leading to predicted premature termination. The family members tested were found to be heterozygous for SCAPER c.868_869del, p. (Glu290Serfs*7) pathogenic variant confirming their carrier status.
UNASSIGNED: We report a case of a syndromic RP of previously unreported ocular phenotype associated with SCAPER pathogenic variant, which will add to the phenotypic spectrum of retinopathy and systemic features associated with pathogenic variants in SCAPER.
UNASSIGNED: A 17-year-old male presented with progressive nyctalopia in both eyes. He underwent ophthalmic examination and multimodal imaging. A complete retinal degeneration panel consisting of 322 genes was used to screen for molecular causes of retinal dystrophy in this patient along with family segregation analysis.
UNASSIGNED: Fundus examination of the proband revealed mild RP phenotype with waxy pallor of optic discs, attenuated retinal arterioles, and single bone spicule like pigmentary change in the mid-periphery bilaterally. Multimodal imaging and ffERG demonstrated a picture of RP with cone dysfunction without impacting central or color vision bilaterally. Examined family members were found to be normal. The proband was found to be heterozygous for two novel frameshift pathogenic variants in SCAPER c.3781del, p. (Val1261Serfs*26), c.868_869del, p. (Glu290Serfs*7) both leading to predicted premature termination. The family members tested were found to be heterozygous for SCAPER c.868_869del, p. (Glu290Serfs*7) pathogenic variant confirming their carrier status.
UNASSIGNED: We report a case of a syndromic RP of previously unreported ocular phenotype associated with SCAPER pathogenic variant, which will add to the phenotypic spectrum of retinopathy and systemic features associated with pathogenic variants in SCAPER.
摘要：
■先前已报道SCAPER基因突变是综合征和非综合征常染色体隐性遗传性视网膜色素变性（RP）的罕见原因。我们报告了一例由SCAPER移码杂合突变引起的综合征性RP。我们的病例具有相对温和的眼部表型，在全视野视网膜电图（ffERG）上发现了视锥受累，而不影响中枢或色觉。
■一名17岁男性双眼均出现进行性夜盲症。他接受了眼科检查和多模态成像。由322个基因组成的完整的视网膜变性小组用于筛查该患者视网膜营养不良的分子原因以及家庭隔离分析。
■先证者的眼底检查显示轻度RP表型，视盘蜡质苍白，视网膜小动脉减弱，双侧中周和单骨针状色素变化。多模式成像和ffERG显示了RP的图像，具有锥体功能障碍，而不会影响两侧的中央或色觉。被检查的家庭成员被发现是正常的。在SCAPERc.3781del中发现先证者是两个新的移码致病变体的杂合，p.(Val1261Serfs*26)，c.868_869del,p.（Glu290Serfs*7）均导致预测的过早终止。测试的家庭成员被发现是SCAPERc.868_869del的杂合，p。（Glu290Serfs*7）致病性变异，确认其携带者状态。
■我们报告一例以前未报告的与SCAPER致病变异相关的眼部表型综合征性RP，这将增加SCAPER中视网膜病变的表型谱和与致病变异相关的系统特征。
■一名17岁男性双眼均出现进行性夜盲症。他接受了眼科检查和多模态成像。由322个基因组成的完整的视网膜变性小组用于筛查该患者视网膜营养不良的分子原因以及家庭隔离分析。
■先证者的眼底检查显示轻度RP表型，视盘蜡质苍白，视网膜小动脉减弱，双侧中周和单骨针状色素变化。多模式成像和ffERG显示了RP的图像，具有锥体功能障碍，而不会影响两侧的中央或色觉。被检查的家庭成员被发现是正常的。在SCAPERc.3781del中发现先证者是两个新的移码致病变体的杂合，p.(Val1261Serfs*26)，c.868_869del,p.（Glu290Serfs*7）均导致预测的过早终止。测试的家庭成员被发现是SCAPERc.868_869del的杂合，p。（Glu290Serfs*7）致病性变异，确认其携带者状态。
■我们报告一例以前未报告的与SCAPER致病变异相关的眼部表型综合征性RP，这将增加SCAPER中视网膜病变的表型谱和与致病变异相关的系统特征。
