Neuro-ophthalmologic findings in humans with quadrupedal locomotion
Author
Sarac O.
Gulsuner, S.
Yildiz-Tasci, Y.
Ozcelik, T.
Kansu, T.
Date
2012Source Title
Ophthalmic Genetics
Print ISSN
13816810
Volume
33
Issue
4
Pages
249 - 252
Language
English
Type
ArticleItem Usage Stats
117
views
views
114
downloads
downloads
Abstract
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. © 2012 Informa Healthcare USA, Inc.
Keywords
Cerebellar ataxiaDysequilibrium syndrome (CAMRQ)
Mental retardation
Neuro-ophthalmologic findings
Quadrupedal locomotion
adult
article
ataxia
case report
cerebellar ataxia
cerebellum atrophy
color vision
dysmetria
eye disease
female
gait disorder
gene mutation
human
hypoplasia
male
mental deficiency
missense mutation
mixed hearing loss
neurologic disease
nuclear magnetic resonance
nystagmus
ophthalmoscopy
priority journal
retina macula degeneration
snellen chart
temporal disc pallor
Adult
Agenesis of Corpus Callosum
Atrophy
Cerebellar Ataxia
Cerebellum
Family
Female
Humans
Intellectual Disability
Magnetic Resonance Imaging
Male
Mutation, Missense
Nystagmus, Pathologic
Optic Atrophy
Pedigree
Young Adult