Balikova Irina, Robson Anthony G, Holder Graham E, Ostergaard Pia, Mansour Sahar, Moore Anthony T
Moorfields Eye Hospital, London, UK.
Free University of Brussels, Brussels, Belgium.
Acta Ophthalmol. 2016 Feb;94(1):92-8. doi: 10.1111/aos.12759. Epub 2015 May 21.
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations.
Standard ophthalmic examination and investigation including visual acuity, refraction and fundus examination was carried out in all patients. Fundus autofluorescence imaging (FAF) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (OCT). Flash electroretinography (ERG) was performed in seven patients, and five underwent additional pattern electroretinography (PERG).
The patients ranged in age from 2 to 10 years. Most presented with visual acuity loss. Fundus examination revealed lacunae of chorioretinal atrophy. Pigmentary macular changes and optic disc pallor were present in three of seven patients. Fundus autofluorescence demonstrated hypoautofluorescence at the macula in two of three patients. The lacunae of chorioretinal atrophy were hypoautofluorescent. The OCT showed atrophic maculae in three of four patients. Follow-up in one patient showed no deterioration of the vision over a 9-year period. The lesions appear not to be progressive on the follow-up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients.
Patients with KIF11 mutations show a specific ocular phenotype with variable expressivity and intrafamilial variability. Macular atrophy and dysfunction have not been consistently documented before. The fundus lesions appear non-progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow-up of patients with this syndrome.
伴有或不伴有脉络膜视网膜病变、淋巴水肿或智力残疾的小头畸形（MCLID）是一种常染色体显性遗传病。已发现约75%的病例中致病原因是KIF11基因突变。本研究描述了确诊为KIF11基因突变患者的眼部表型。
对所有患者进行标准眼科检查和评估，包括视力、验光和眼底检查。对3例患者进行了眼底自发荧光成像（FAF），4例患者接受了光谱域光学相干断层扫描（OCT）。对7例患者进行了闪光视网膜电图（ERG）检查，5例患者还接受了图形视网膜电图（PERG）检查。
患者年龄在2至10岁之间。大多数患者存在视力丧失。眼底检查发现脉络膜视网膜萎缩缺损。7例患者中有3例出现黄斑色素改变和视盘苍白。3例患者中有2例眼底自发荧光显示黄斑区低自发荧光。脉络膜视网膜萎缩缺损处为低自发荧光。OCT显示4例患者中有3例黄斑萎缩。1例患者随访9年视力未恶化。随访成像显示病变似乎无进展。电生理学检查显示广泛的视杆和视锥功能障碍以及严重的黄斑功能障碍。7例患者中有3例存在明显的视网膜内层功能障碍。
KIF11基因突变患者表现出特定的眼部表型，具有可变的表达性和家族内变异性。黄斑萎缩和功能障碍以前尚未得到一致记录。眼底病变似乎无进展。这些发现有助于提供准确的诊断，从而改善该综合征患者的管理和随访。
