Sarac Ozge, Gulsuner Suleyman, Yildiz-Tasci Yelda, Ozcelik Tayfun, Kansu Tulay
Department of 2nd Ophthalmology, Ankara Ataturk Training and Research Hospital, Bilkent, Ankara, Turkey.
Ophthalmic Genet. 2012 Dec;33(4):249-52. doi: 10.3109/13816810.2012.689412. Epub 2012 Jun 11.
To report the neuro-ophthalmologic findings in four patients from the same family with cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ)2 associated with quadrupedal locomotion.
A case series.
All four patients carry the private missense mutation, WDR81 p.P856L. The brain Magnetic Resonance Imaging (MRI) of these patients revealed morphological abnormalities including mild hypoplasia of the corpus callosum, and atrophy of superior, middle, and inferior peduncles of the cerebellum. All patients had down-beat nystagmus, while two male patients additionally had bilateral temporal disc pallor along with ring-shaped macular atrophy.
The neuro-ophthalmic examination in CAMRQ2 revealed downbeat nystagmus in all patients, and temporal disc pallor and macular atrophy in two patients. It remains to be determined whether these findings are consistent in other forms of CAMRQ with mutations in VLDLR or CA8.
报告来自同一家庭的4例患有小脑共济失调、智力障碍和平衡失调综合征（CAMRQ）2并伴有四足运动的患者的神经眼科检查结果。
病例系列研究。
所有4例患者均携带私人错义突变WDR81 p.P856L。这些患者的脑部磁共振成像（MRI）显示形态学异常，包括胼胝体轻度发育不全，以及小脑上、中、下脚萎缩。所有患者均有下跳性眼球震颤，而两名男性患者还伴有双侧颞侧视盘苍白以及环形黄斑萎缩。
CAMRQ2患者的神经眼科检查显示所有患者均有下跳性眼球震颤，两名患者有颞侧视盘苍白和黄斑萎缩。这些发现是否在其他形式的伴有极低密度脂蛋白受体（VLDLR）或碳酸酐酶8（CA8）突变的CAMRQ中一致仍有待确定。
