Background/aims The purpose of this study was to investigate retinal structure in detail of subjects with autosomal-dominant (AD) and autosomal-recessive (AR) PROM1 -associated retinal degeneration ( PROM1 -RD), study design: institutional, cross-sectional study. Methods Four eyes from four subjects (three with AD and one with AR) PROM1 -RD were investigated by ophthalmic examination including best-corrected visual acuity (BCVA) and multimodal retinal imaging: fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) and adaptive optics scanning light ophthalmoscopy. Quantitative assessment of atrophic lesions determined by FAF, thickness of individual retinal layers and cone photoreceptor quantification was performed. Results BCVA ranged from 20/16 to 20/200. Initial pathological changes included the presence of hyperautofluorescent spots on FAF imaging, while later stages demonstrated discrete areas of atrophy. In all patients, thinning of the outer retinal layers on SD-OCT with varying degrees of atrophy could be detected depending on disease-causing variants and age. Cone density was quantified both in central and/or at different eccentricities from the fovea. Longitudinal assessments were possible in two patients. Conclusions PROM1 -RD comprises a wide range of clinical phenotypes. Depending on the stage of disease, the cone mosaic in PROM1 -RD is relatively preserved and can potentially be targeted by cone-directed interventions. Data are available on reasonable request.

中文翻译：

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PROM1 相关视网膜变性的深度表型分析

背景/目的本研究的目的是详细调查常染色体显性（AD）和常染色体隐性（AR）PROM1 相关视网膜变性（PROM1 -RD）受试者的视网膜结构，研究设计：机构、横断面学习。方法 通过眼科检查对 4 名受试者（3 名 AD 和 1 名 AR）PROM1 -RD 的 4 只眼睛进行调查，包括最佳矫正视力（BCVA）和多模态视网膜成像：眼底自发荧光（FAF）、谱域光学相干断层扫描（ SD-OCT）和自适应光学扫描光检眼镜。对通过 FAF 确定的萎缩性病变、各个视网膜层的厚度和视锥细胞定量进行定量评估。结果 BCVA 范围为 20/16 至 20/200。最初的病理变化包括 FAF 成像上出现超自发荧光斑点，而后期则表现出离散的萎缩区域。在所有患者中，SD-OCT 可以检测到视网膜外层变薄并伴有不同程度的萎缩，具体取决于致病变异和年龄。在中心和/或距中央凹的不同偏心率处对视锥细胞密度进行量化。可以对两名患者进行纵向评估。结论 PROM1 -RD 包含广泛的临床表型。根据疾病的阶段，PROM1 -RD 中的视锥细胞镶嵌相对保留，并且可能成为视锥细胞定向干预的目标。可根据合理要求提供数据。