Abstract：
UNASSIGNED: Biallelic variants in RTN4IP1 are a well-established cause of syndromic and nonsyndromic early-onset autosomal recessive optic neuropathy. They have more recently been reported to cause a concomitant but later-onset rod-cone dystrophy with or without syndromic features.
UNASSIGNED: A comprehensive evaluation was performed that included assessment of visual and retinal function, clinical examination, and retinal imaging. Childhood ophthalmic records as well as the results of genetic testing were evaluated.
UNASSIGNED: A 24-year-old female described longstanding reduced visual acuity with more recent subjective impairment of dark adaptation. Visual acuity was subnormal in both eyes. Goldmann kinetic perimetry demonstrated scotomas in a pattern consistent with the presence of both optic neuropathy and rod-cone dystrophy with fundus exam as well as retinal imaging showing corroborating findings. Full-field electroretinography further confirmed the presence of a rod-cone dystrophy. Genetic testing demonstrated biallelic variants in RTN4IP1, one of which was novel, in association with the ocular findings.
UNASSIGNED: RTN4IP1-associated early-onset bilateral optic neuropathy with rod-cone dystrophy is a recently described clinical entity with limited reports available to-date. The present case provides additional support for this dual phenotype and identifies a novel causative variant.
UNASSIGNED: A comprehensive evaluation was performed that included assessment of visual and retinal function, clinical examination, and retinal imaging. Childhood ophthalmic records as well as the results of genetic testing were evaluated.
UNASSIGNED: A 24-year-old female described longstanding reduced visual acuity with more recent subjective impairment of dark adaptation. Visual acuity was subnormal in both eyes. Goldmann kinetic perimetry demonstrated scotomas in a pattern consistent with the presence of both optic neuropathy and rod-cone dystrophy with fundus exam as well as retinal imaging showing corroborating findings. Full-field electroretinography further confirmed the presence of a rod-cone dystrophy. Genetic testing demonstrated biallelic variants in RTN4IP1, one of which was novel, in association with the ocular findings.
UNASSIGNED: RTN4IP1-associated early-onset bilateral optic neuropathy with rod-cone dystrophy is a recently described clinical entity with limited reports available to-date. The present case provides additional support for this dual phenotype and identifies a novel causative variant.
摘要：
■RTN4IP1的双等位基因变异是综合征型和非综合征型早发性常染色体隐性遗传性视神经病变的公认原因。最近有报道称，它们会导致伴有或不伴有综合征特征的但迟发性的杆锥营养不良。
■进行了综合评估，包括评估视觉和视网膜功能，临床检查,和视网膜成像。评估了儿童眼科记录以及基因检测的结果。
■一位24岁的女性描述了长期的视力下降以及最近的暗适应主观损害。双眼视力低于正常。Goldmann动力学视野检查显示暗点瘤的模式与视神经病变和视锥营养不良的存在一致，眼底检查以及视网膜成像显示出确凿的发现。全场视网膜电图进一步证实了棒锥营养不良的存在。基因测试表明RTN4IP1中的双等位基因变异，其中一种是新颖的，与眼部发现有关。
■RTN4IP1相关的早发性双侧视神经病变伴视锥细胞营养不良是最近描述的临床实体，目前报道有限。本案例为这种双重表型提供了额外的支持，并鉴定了一种新的致病变体。
■进行了综合评估，包括评估视觉和视网膜功能，临床检查,和视网膜成像。评估了儿童眼科记录以及基因检测的结果。
■一位24岁的女性描述了长期的视力下降以及最近的暗适应主观损害。双眼视力低于正常。Goldmann动力学视野检查显示暗点瘤的模式与视神经病变和视锥营养不良的存在一致，眼底检查以及视网膜成像显示出确凿的发现。全场视网膜电图进一步证实了棒锥营养不良的存在。基因测试表明RTN4IP1中的双等位基因变异，其中一种是新颖的，与眼部发现有关。
■RTN4IP1相关的早发性双侧视神经病变伴视锥细胞营养不良是最近描述的临床实体，目前报道有限。本案例为这种双重表型提供了额外的支持，并鉴定了一种新的致病变体。
