A Case of Joubert Syndrome Accompanied with Retinal Abnormality

Jung Yul Park; Sung Il Kim; Hye Shin Jeon; Hee Young Choi

doi:10.3341/jkos.2015.56.8.1304

Journal List > J Korean Ophthalmol Soc > v.56(8) > 1010069

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Park, Kim, Jeon, and Choi: A Case of Joubert Syndrome Accompanied with Retinal Abnormality

Original Article

J Korean Ophthalmol Soc 2015;56(8):1304-1309.

Published online: 29 August 2015

DOI: https://doi.org/10.3341/jkos.2015.56.8.1304

A Case of Joubert Syndrome Accompanied with Retinal Abnormality

Jung Yul Park, M.D., Sung Il Kim, M.D., Hye Shin Jeon, M.D., Hee Young Choi, M.D., PhD

Department of Ophthalmology, Pusan National University School of Medicine, Busan, Korea

Address reprint requests to Hee Young Choi, MD, PhD Department of Ophthalmology, Pusan National University Hospital, #179 Gudeok-ro, Seo-gu, Busan 602-739, Korea Tel: 82-51-240-7324, Fax: 82-51-242-7341 E-mail: hychoi@pusan.ac.kr

Received 28 November 201416 April 2015 Accepted 25 June 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Joubert syndrome, Molar tooth sign, Retinal abnormality, Retinitis pigmentosa, Staphyloma

References

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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.

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.

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.

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.

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