A Case of Joubert Syndrome Accompanied with Retinal Abnormality.
10.3341/jkos.2015.56.8.1304
- Author:
Jung Yul PARK
1
;
Sung Il KIM
;
Hye Shin JEON
;
Hee Young CHOI
Author Information
1. Department of Ophthalmology, Pusan National University School of Medicine, Busan, Korea. hychoi@pusan.ac.kr
- Publication Type:Case Report
- Keywords:
Joubert syndrome;
Molar tooth sign;
Retinal abnormality;
Retinitis pigmentosa;
Staphyloma
- MeSH:
Brain Stem;
Cerebellum;
Child;
Color Vision;
Color Vision Defects;
Dilatation;
Female;
Fourth Ventricle;
Humans;
Magnetic Resonance Imaging;
Mesencephalon;
Metabolic Diseases;
Molar;
Muscle Tonus;
Pigmentation;
Retina;
Retinaldehyde*;
Retinitis Pigmentosa;
Tooth;
Vision, Low;
Visual Acuity
- From:Journal of the Korean Ophthalmological Society
2015;56(8):1304-1309
- CountryRepublic of Korea
- Language:Korean
-
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. CASE SUMMARY: 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.
