Sarac O.Gulsuner, S.Yildiz-Tasci, Y.Ozcelik, T.Kansu, T.2016-02-082016-02-08201213816810http://hdl.handle.net/11693/21240Purpose: 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. Method: A case series. Results: 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. Conclusions: 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. © 2012 Informa Healthcare USA, Inc.EnglishCerebellar ataxiaDysequilibrium syndrome (CAMRQ)Mental retardationNeuro-ophthalmologic findingsQuadrupedal locomotionadultarticleataxiacase reportcerebellar ataxiacerebellum atrophycolor visiondysmetriaeye diseasefemalegait disordergene mutationhumanhypoplasiamalemental deficiencymissense mutationmixed hearing lossneurologic diseasenuclear magnetic resonancenystagmusophthalmoscopypriority journalretina macula degenerationsnellen charttemporal disc pallorAdultAgenesis of Corpus CallosumAtrophyCerebellar AtaxiaCerebellumFamilyFemaleHumansIntellectual DisabilityMagnetic Resonance ImagingMaleMutation, MissenseNystagmus, PathologicOptic AtrophyPedigreeYoung AdultArticle10.3109/13816810.2012.689412