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Neuro-ophthalmologic findings in humans with quadrupedal locomotion
Ozge Sarac1, Suleyman Gulsuner, Yelda Yildiz-Tasci
1Department of 2nd Ophthalmology, Ankara Ataturk Training and Research Hospital, Bilkent, Ankara, Turkey. osarac2002@yahoo.com
Purpose:
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.