Herbert Wertheim School of Optometry and Vision Science, University of California, Berkeley, CA, USA.
Department of Ophthalmology, University of California, San Francisco, CA, USA.
Adv Exp Med Biol. 2023;1415:189-194. doi: 10.1007/978-3-031-27681-1_28.
Enhanced S-cone Syndrome (ESCS) is an autosomal recessive inherited retinal disease mostly associated with disease-causing variants in the NR2E3 gene. During retinal development in ESCS, rod photoreceptor precursors are misdirected to form photoreceptors similar to short-wavelength cones, or S-cones. Compared to a normal human retina, patients with ESCS have no rods and significantly increased numbers of S-cones. Night blindness is the main visual symptom, and visual acuity and color vision can be normal at early disease stages. Histology of donor eyes and adaptive optics imaging revealed increased S-cone density outside of the fovea compared to normal. Visual function testing reveals absent rod function and abnormally enhanced sensitivity to short-wavelength light. Unlike most retinal degenerative diseases, ESCS results in a gain in S-cone photoreceptor function. Research involving ESCS could improve understanding of this rare retinal condition and also shed light on the role of NR2E3 expression in photoreceptor survival.
增强型 S- cones 综合征（ESCS）是一种常染色体隐性遗传性视网膜疾病，主要与 NR2E3 基因的致病变异有关。在 ESCS 的视网膜发育过程中，视杆细胞前体被错误引导形成类似于短波长 cones（S- cones）的感光细胞。与正常人类视网膜相比，ESCS 患者没有视杆细胞，而 S- cones 的数量明显增加。夜盲症是主要的视觉症状，在疾病早期阶段，视力和色觉可能正常。供体眼的组织学和自适应光学成像显示，与正常相比，在中心凹以外的区域 S- cone 密度增加。视觉功能测试显示视杆细胞功能缺失，对短波长光的敏感性异常增强。与大多数视网膜退行性疾病不同，ESCS 导致 S- cone 感光细胞功能增强。对 ESCS 的研究不仅可以增进对这种罕见视网膜疾病的了解，还可以揭示 NR2E3 表达在感光细胞存活中的作用。
