Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia.
Biomedica. 2022 May 1;42(Sp. 1):130-143. doi: 10.7705/biomedica.6129.
Introduction: There are several syndromes that associate retinitis pigmentosa with deafness or hearing loss. The most frequent is Usher syndrome, a genetic disorder of autosomal recessive inheritance, which, in some cases, is accompanied by vestibular dysfunction. However, there are cases of families that despite having retinitis pigmentosa associated with deafness, cannot be classified as Usher or other syndromes due to additional findings. Objective: To reassess the phenotypes of 103 families previously diagnosed as possible Usher syndrome and/or retinitis pigmentosa associated with deafness. Materials and methods: We conducted a descriptive and retrospective study by reviewing the medical records of 103 families with a probable clinical diagnosis of Usher syndrome and/or retinitis pigmentosa associated with deafness. Families whose clinical diagnosis did not correspond to the typical Usher syndrome were selected and evaluated ophthalmologically and audiologically. Demographic and clinical variables were analyzed. Results: We selected and then reevaluated 14 families and 55 individuals as they did not correspond to a clinical diagnosis of Usher syndrome; 13.6% of the families initially considered to have typical Usher syndrome were later diagnosed with retinitis pigmentosa associated with deafness, another ocular symptom associated with hearing loss, retinitis pigmentosa, or isolated hearing loss in the same family. Conclusions: Family studies are essential in cases where the symptoms do not match the typical Usher’ syndrome. In the cases of retinitis pigmentosa associated with deafness, a correct clinical diagnosis allows for focusing on the molecular analyses to establish a differential diagnosis. The need for nomenclature guidelines on these atypical findings is relevant to aid physicians and researchers in the best approach to these cases.
有几种综合征会使视网膜色素变性与耳聋或听力损失相关联。最常见的是 Usher 综合征，这是一种常染色体隐性遗传的遗传疾病，在某些情况下，还伴有前庭功能障碍。然而，也有一些家庭尽管存在与耳聋相关的视网膜色素变性，但由于其他发现而无法归类为 Usher 或其他综合征。目的：重新评估先前诊断为可能的 Usher 综合征和/或与耳聋相关的视网膜色素变性的 103 个家族的表型。材料与方法：我们通过回顾 103 个可能临床诊断为 Usher 综合征和/或与耳聋相关的视网膜色素变性的家庭的医疗记录，进行了一项描述性和回顾性研究。选择了不符合典型 Usher 综合征临床诊断的家庭，并进行眼科和听力评估。分析了人口统计学和临床变量。结果：我们选择并重新评估了 14 个家庭和 55 个人，因为他们不符合典型 Usher 综合征的临床诊断；最初被认为具有典型 Usher 综合征的 13.6%的家庭后来被诊断为与耳聋相关的视网膜色素变性，在同一家庭中还存在与听力损失相关的另一种眼部症状、视网膜色素变性或孤立性听力损失。结论：对于症状与典型 Usher 综合征不相符的病例，家族研究至关重要。在与耳聋相关的视网膜色素变性的情况下，正确的临床诊断有助于进行分子分析以建立鉴别诊断。制定这些非典型发现的命名指南对于帮助医生和研究人员处理这些病例非常重要。
