Neuro-ophthalmologic findings in humans with quadrupedal locomotion.
OBJECTIVE
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.


METHODS
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.
Department of 2nd Ophthalmology, Ankara Ataturk Training and Research Hospital, Bilkent, Ankara, Turkey. osarac2002@yahoo.com
Ozge
O
Sarac
Suleyman
S
Gulsuner
Yelda
Y
Yildiz-Tasci
Tayfun
T
Ozcelik
Tulay
T
Kansu
D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D001284:Atrophy; D002524:Cerebellar Ataxia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002531:Cerebellum / Q000473:pathology*; D005190:Family; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D009759:Nystagmus, Pathologic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009896:Optic Atrophy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D055815:Young Adult