PDF(Pubmed)
Abstract：
UNASSIGNED: To present a case of unilateral IMPG2-associated adult onset vitelliform macular dystrophy (AVMD).
UNASSIGNED: A 68 year-old female presented with best corrected visual acuity (BCVA) of 20/20 and 20/40 for the right and left eye respectively. The patient had a left subfoveal yellow lesion on dilated fundus examination. Optical coherence tomography showed hyper-reflective material accumulation below the fovea in the left eye only. The patient was followed for 10 years with stable BCVA, and evolution of the subretinal vitelliform lesion to a \"vitelliruptive\" stage. The right eye did not develop vitelliform lesion. Genetic testing identified a heterozygous likely disease-causing variant in IMPG2; c.3423-7_3423-4del.
UNASSIGNED: This is the first report of unilateral AVMD associated with IMPG2, expanding the phenotypic spectrum of IMPG2 retinopathy. We provide further evidence that IMPG2 variants can cause both autosomal recessive rod-cone dystrophy and autosomal dominant AVMD, with implications for patient counselling.
UNASSIGNED: A 68 year-old female presented with best corrected visual acuity (BCVA) of 20/20 and 20/40 for the right and left eye respectively. The patient had a left subfoveal yellow lesion on dilated fundus examination. Optical coherence tomography showed hyper-reflective material accumulation below the fovea in the left eye only. The patient was followed for 10 years with stable BCVA, and evolution of the subretinal vitelliform lesion to a \"vitelliruptive\" stage. The right eye did not develop vitelliform lesion. Genetic testing identified a heterozygous likely disease-causing variant in IMPG2; c.3423-7_3423-4del.
UNASSIGNED: This is the first report of unilateral AVMD associated with IMPG2, expanding the phenotypic spectrum of IMPG2 retinopathy. We provide further evidence that IMPG2 variants can cause both autosomal recessive rod-cone dystrophy and autosomal dominant AVMD, with implications for patient counselling.
摘要：
未经批准：介绍一例单侧IMPG2相关成人起病卵黄样黄斑营养不良（AVMD）。
UNASSIGNED：一名68岁女性的右眼和左眼的最佳矫正视力（BCVA）分别为20/20和20/40。患者在扩张的眼底检查中具有左侧中央凹下黄色病变。光学相干断层扫描显示，仅左眼中央凹下方的高反射物质积聚。患者随访10年，BCVA稳定，视网膜下卵黄样病变演变为“卵黄破裂”阶段。右眼未出现卵黄样病变。遗传测试在IMPG2中鉴定出杂合的可能致病变异;c.3423-7_3423-4del。
UNASSIGNED：这是与IMPG2相关的单侧AVMD的首次报道，扩展了IMPG2视网膜病变的表型谱。我们提供了进一步的证据，表明IMPG2变体可以导致常染色体隐性遗传的视锥细胞营养不良和常染色体显性遗传的AVMD，对患者咨询有影响。
UNASSIGNED：一名68岁女性的右眼和左眼的最佳矫正视力（BCVA）分别为20/20和20/40。患者在扩张的眼底检查中具有左侧中央凹下黄色病变。光学相干断层扫描显示，仅左眼中央凹下方的高反射物质积聚。患者随访10年，BCVA稳定，视网膜下卵黄样病变演变为“卵黄破裂”阶段。右眼未出现卵黄样病变。遗传测试在IMPG2中鉴定出杂合的可能致病变异;c.3423-7_3423-4del。
UNASSIGNED：这是与IMPG2相关的单侧AVMD的首次报道，扩展了IMPG2视网膜病变的表型谱。我们提供了进一步的证据，表明IMPG2变体可以导致常染色体隐性遗传的视锥细胞营养不良和常染色体显性遗传的AVMD，对患者咨询有影响。
