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Abstract：
To highlight recognizable patterns of subretinal fibrosis in enhanced S-cone syndrome (ESCS).
Retrospective case series.
Forty-seven patients with subretinal fibrosis identified from 101 patients with clinically diagnosed ESCS, confirmed by full-field electroretinography (35/47), genetic testing (34/47), or both.
Multimodal retinal imaging, electroretinography, and genetic analysis.
Patterns of subretinal fibrosis with angiographic, OCT, and genetic correlations.
Eighty-five eyes of 47 patients (24 male patients; 36 unrelated consanguineous families) had subretinal fibrosis. Mean age at presentation was 14 years. Best-corrected visual acuity ranged from 20/20 to hand movements. All 34 genetically tested patients were homozygous for pathogenic NR2E3 variants. Subretinal fibrosis was always in the macular area, although it extended beyond in some patients. Six recurrent patterns of submacular fibrosis were noted: central unifocal nodular, circumferential unifocal nodular, multifocal nodular, arcuate, helicoid, and thick geographic. Some patients showed a combination of patterns. Previous misdiagnosis as inflammatory disease was common. Fibrosis was fairly symmetrical in a given patient but not always present or identical in other affected individuals with a given homozygous mutation from the same or other families.
These recognizable patterns of submacular fibrosis are part of the ESCS phenotypic spectrum and strongly suggest the disease. In addition to facilitating diagnosis, recognition of these patterns can spare patients unnecessary workup for an inflammatory cause.
Retrospective case series.
Forty-seven patients with subretinal fibrosis identified from 101 patients with clinically diagnosed ESCS, confirmed by full-field electroretinography (35/47), genetic testing (34/47), or both.
Multimodal retinal imaging, electroretinography, and genetic analysis.
Patterns of subretinal fibrosis with angiographic, OCT, and genetic correlations.
Eighty-five eyes of 47 patients (24 male patients; 36 unrelated consanguineous families) had subretinal fibrosis. Mean age at presentation was 14 years. Best-corrected visual acuity ranged from 20/20 to hand movements. All 34 genetically tested patients were homozygous for pathogenic NR2E3 variants. Subretinal fibrosis was always in the macular area, although it extended beyond in some patients. Six recurrent patterns of submacular fibrosis were noted: central unifocal nodular, circumferential unifocal nodular, multifocal nodular, arcuate, helicoid, and thick geographic. Some patients showed a combination of patterns. Previous misdiagnosis as inflammatory disease was common. Fibrosis was fairly symmetrical in a given patient but not always present or identical in other affected individuals with a given homozygous mutation from the same or other families.
These recognizable patterns of submacular fibrosis are part of the ESCS phenotypic spectrum and strongly suggest the disease. In addition to facilitating diagnosis, recognition of these patterns can spare patients unnecessary workup for an inflammatory cause.
摘要：
强调增强S-锥综合征（ESCS）中视网膜下纤维化的可识别模式。
回顾性病例系列。
从101例临床诊断为ESCS的患者中确定的47例视网膜下纤维化患者，通过全场视网膜电图（35/47）证实，基因检测（34/47）或者两者兼而有之。
多模态视网膜成像，视网膜电图,和遗传分析。
血管造影显示视网膜下纤维化的模式，OCT,和遗传相关性。
47例患者（24例男性患者；36例无关亲属）的85只眼患有视网膜下纤维化。演示时的平均年龄为14岁。最佳矫正视力范围从20/20到手部运动。所有34名基因测试的患者都是致病性NR2E3变体的纯合子。视网膜下纤维化总是在黄斑区，尽管它在某些患者中扩展。注意到黄斑下纤维化的六种复发模式：中央单焦结节，圆周单焦结节，多灶性结节,弓形,螺旋体,和厚厚的地理。一些患者表现出多种模式。以前误诊为炎症性疾病很常见。纤维化在给定患者中相当对称，但在具有来自相同或其他家庭的给定纯合突变的其他受影响个体中并不总是存在或相同。
这些可识别的黄斑下纤维化模式是ESCS表型谱的一部分，强烈提示该病。除了便于诊断，对这些模式的识别可以使患者免于因炎症原因而进行不必要的检查。
回顾性病例系列。
从101例临床诊断为ESCS的患者中确定的47例视网膜下纤维化患者，通过全场视网膜电图（35/47）证实，基因检测（34/47）或者两者兼而有之。
多模态视网膜成像，视网膜电图,和遗传分析。
血管造影显示视网膜下纤维化的模式，OCT,和遗传相关性。
47例患者（24例男性患者；36例无关亲属）的85只眼患有视网膜下纤维化。演示时的平均年龄为14岁。最佳矫正视力范围从20/20到手部运动。所有34名基因测试的患者都是致病性NR2E3变体的纯合子。视网膜下纤维化总是在黄斑区，尽管它在某些患者中扩展。注意到黄斑下纤维化的六种复发模式：中央单焦结节，圆周单焦结节，多灶性结节,弓形,螺旋体,和厚厚的地理。一些患者表现出多种模式。以前误诊为炎症性疾病很常见。纤维化在给定患者中相当对称，但在具有来自相同或其他家庭的给定纯合突变的其他受影响个体中并不总是存在或相同。
这些可识别的黄斑下纤维化模式是ESCS表型谱的一部分，强烈提示该病。除了便于诊断，对这些模式的识别可以使患者免于因炎症原因而进行不必要的检查。
