Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.

中文翻译：

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维生素 E 缺乏引起的共济失调的非典型视网膜病变：同胞报告

典型的色素性视网膜炎 (RP) 可能不是维生素 E 缺乏性共济失调 (AVED) 中遇到的唯一视网膜表型。以下简短的病例系列描述了 AVED 中一种新型的视网膜病变。我们描述了两名患有 AVED 的患者属于同一近亲同胞。两人均表现出不寻常的视网膜病变，由分散的、多灶性的、钱币状的、高自身荧光的萎缩性视网膜斑块组成。在补充维生素 E 的情况下，视网膜病变保持稳定。我们假设这些变化是早期补充α-生育酚醋酸酯后 AVED 相关 RP 抑制的结果。