A Case of Joubert Syndrome Accompanied with Retinal Abnormality
Journal of the Korean Ophthalmological Society
;
: 1304-1309, 2015.
Article
in Korean
| WPRIM
| ID: wpr-211055
ABSTRACT
PURPOSE:
Joubert syndrome is a rare disorder which affects the cerebellum and the brain stem. Herein, we report a case of Joubert syndrome accompanied with retinal abnormality. CASESUMMARY:
A 9-year-old female visited our hospital with chief complaints of low vision in both eyes, nystagmus, and lack of gaze movement. The best-corrected visual acuity in her right eye was 20/80 and in the left 20/80 and heterotropia was not observed. She appeared to have incomplete total color blindness on the color vision test. The anterior segment test showed no abnormal findings other than diffuse pigmentation and degeneration of the peripheral retina, vascular attenuation, and pale optic disc in both eyes on fundus examination. The patient showed overall developmental delay and decreased muscle tension, but genetic and congenital metabolic disease tests were normal. The molar tooth sign of the midbrain, defect in the lower part of the cerebellum and dilatation of the fourth ventricle were observed on magnetic resonance imaging.CONCLUSIONS:
Appropriate evaluation of retinitis pigmentosa and visual function should be performed in Joubert syndrome patients.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Retina
/
Retinaldehyde
/
Tooth
/
Brain Stem
/
Pigmentation
/
Mesencephalon
/
Magnetic Resonance Imaging
/
Visual Acuity
/
Cerebellum
/
Retinitis Pigmentosa
Limits:
Child
/
Female
/
Humans
Language:
Korean
Journal:
Journal of the Korean Ophthalmological Society
Year:
2015
Type:
Article
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