Inherited retinal dystrophies are a group of monogenic disorders that, as a whole, contribute significantly to the burden of ocular disease in both pediatric and adult patients. In their syndromic forms, retinal dystrophies can be observed in association with intellectual disability, frequently alongside other systemic manifestations. There are now over 80 genes implicated in syndromic retinal dystrophies with intellectual disability. Identifying and accurately characterizing these disorders allows the clinician to narrow the differential diagnosis, evaluate for relevant associated features, arrive at a timely and accurate diagnosis, and address both sight‐threatening ocular manifestations and morbidity‐causing systemic manifestations. The co‐occurrence of retinal dystrophy and intellectual disability in an individual can be challenging to investigate, diagnose, and counsel given the considerable phenotypic and genotypic heterogeneity that exists within this broad group of disorders. We performed a review of the current literature and propose an algorithm to facilitate the evaluation, and clinical and mechanistic classification, of these individuals.

中文翻译：

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具有智力障碍的综合症视网膜营养不良的诊断方法。

遗传性视网膜营养不良是一类单基因疾病，总体上，它们对儿童和成年患者的眼部疾病负担有重大贡献。以它们的症状形式，可以发现视网膜营养不良与智力障碍相关联，并经常伴随其他系统性表现。现在，有80多个基因与智障性视网膜综合症有关。对这些疾病的识别和准确表征可以使临床医生缩小鉴别诊断的范围，评估相关的相关特征，及时准确地进行诊断，并解决威胁视力的眼部表现和引起疾病的全身性表现。鉴于这一系列疾病中存在大量的表型和基因型异质性，因此个体中视网膜营养不良和智力残疾的并发可能难以进行调查，诊断和咨询。我们对当前文献进行了回顾，并提出了一种算法来促进这些个体的评估以及临床和机械分类。