Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
Acta Ophthalmol. 2018 Jun;96(4):e445-e454. doi: 10.1111/aos.13612. Epub 2017 Nov 30.
We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene.
Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full-field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination. DNA samples were analysed using Sanger sequencing or exome sequencing.
In our cohort, the ocular phenotype presented with a wide variability in retinal function and disease severity. However, age of symptom onset (i.e. nystagmus and photophobia) was at 6-9 months in all patients. These symptoms mostly mislead to the diagnosis of congenital achromatopsia (ACHM), Leber congenital amaurosis (LCA), isolated CORD or Bardet-Biedl syndrome. The systemic manifestations in our cohort were highly variable.
In summary, we can report that most of our ALMS patients primarily presented with nystagmus and severe photophobia since early childhood interestingly without night blindness in the absence of systemic symptoms. Only genetic testing analysing both nonsyndromic retinal disease (RD) genes and syndromic ciliopathy genes by comprehensive panel sequencing can result in the correct diagnosis, genetically and clinically, with important implication for the physical health of the individual.
我们旨在描述 7 名由 ALMS1 基因突变引起的 Cone-Rod 视网膜营养不良（CORD）患者的眼科特征和系统表现。
纳入 7 名 Alström 综合征（ALMS）患者进行研究。进行全面眼科检查，包括最佳矫正视力（BCVA）、半自动动态视野检查、色觉测试、根据国际临床视觉电生理学协会（ISCEV）标准进行全视野视网膜电图检查、光谱域光学相干断层扫描（SD-OCT）和眼底自发荧光（FAF）成像，以及裂隙灯和散瞳眼底检查。使用 Sanger 测序或外显子组测序分析 DNA 样本。
在我们的队列中，视网膜功能和疾病严重程度的眼部表型表现出很大的变异性。然而，所有患者的症状起始年龄（即眼球震颤和畏光）均为 6-9 个月。这些症状主要导致先天性色觉障碍（ACHM）、Leber 先天性黑蒙（LCA）、孤立性 CORD 或 Bardet-Biedl 综合征的误诊。我们队列中的系统表现高度可变。
总之，我们可以报告，我们的大多数 ALMS 患者主要表现为眼球震颤和严重畏光，有趣的是，在没有系统症状的情况下，从幼儿期就开始出现，而没有夜盲。只有通过综合面板测序分析非综合征性视网膜疾病（RD）基因和综合征性纤毛病基因的遗传测试，才能在遗传和临床方面做出正确诊断，对个体的身体健康具有重要意义。
