J Korean Ophthalmol Soc.  2015 Aug;56(8):1304-1309. 10.3341/jkos.2015.56.8.1304.

A Case of Joubert Syndrome Accompanied with Retinal Abnormality

• Park JY
• Kim SI
• Jeon HS
• Choi HY

• KMID: 2215088
• DOI: http://doi.org/10.3341/jkos.2015.56.8.1304

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.

Keyword

Joubert syndrome; Molar tooth sign; Retinal abnormality; Retinitis pigmentosa; Staphyloma

MeSH Terms

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
Retinaldehyde

Figure

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  Figure 1. (A) Fundus photographs of patient eye. Both eyes show mottling appearance of the retinal pigment epithelium with bony-spicule pigmentation. Waxy pallor optic nerve head and mild attenuation of the retinal arterioles are observed. (B) Fundus photographs of the patients mother's eye. No abnormal findings are observed.

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  Figure 2. Optical coherence tomography findings (horizontal scans) of case (A, B). Both images show loss of photoreceptor (defect in inner and outer segment junction layer) layer on the fovea. Posterior staphyloma is also observed on the fovea.

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  Figure 3. (A, B) Humphrey visual field test (SITA-Fast) showing nearly total visual field defect on both eyes. The visual field test result of the left eye shows some fixation losses and low test reliability due to the patient poor coop-eration. SITA-Fast = Swedish Interactive Threshold algorithm-Fast; POS = positive; NEG = negative; N/A = not available; ASB = apostilb; RX = prescription; DS = Dioptres sphere; DC = Dioptres cylinder; GHT = glaucoma hemifield test; VFI = visual field index; MD = mean deviation; PSD = pattern standard deviation.

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  Figure 4. Cranial magnetic resonance imaging shows (A) ‘molar tooth sign’ and elongated superior cerebellar peduncles (yellow ar-rows) which are classic finding of Joubert syndrome. (B) bat-wing morphology of 4th ventricle (yellow arrow) and (C) thickened su-perior cerebellar peducle (upper yellow arrow) and cerebellar vermis hypoplasia (lower yellow arrow) are also observed.

Reference

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