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 Table of Contents  
Year : 2021  |  Volume : 1  |  Issue : 3  |  Page : 429-430

Bilateral optic disc coloboma in Joubert syndrome - A rare association

1 Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Pondicherry, India
2 DNB, Aravind Eye Hospital, Pondicherry, India
3 Department of Neuro-Ophthalmology and Low-Vision Services, Aravind Eye Hospital, Pondicherry, India

Date of Submission16-Sep-2020
Date of Acceptance09-Feb-2021
Date of Web Publication02-Jul-2021

Correspondence Address:
Dr. Priya Sivakumar
Department of Neuro Ophthalmology and Low Vision Services, Aravind Eye Care System, Puducherry - 605 007
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_2979_20

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Keywords: Batwing appearance, Joubert syndrome, optic disc coloboma, vermis hypoplasia/saplasia

How to cite this article:
Kalita IR, Gupta I, Sivakumar P, Veena K. Bilateral optic disc coloboma in Joubert syndrome - A rare association. Indian J Ophthalmol Case Rep 2021;1:429-30

How to cite this URL:
Kalita IR, Gupta I, Sivakumar P, Veena K. Bilateral optic disc coloboma in Joubert syndrome - A rare association. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Jul 26];1:429-30. Available from: https://www.ijoreports.in/text.asp?2021/1/3/429/320115

An 11-month-old male child, the first child born from a second-degree consanguineous marriage with a history of global developmental delay and tachypnoea of newborn, was brought with complaints of not fixing with both eyes (BEs). There was no similar family history. On examination, fixation was poor and fundus evaluation revealed bilateral torsional nystagmus: BEs optic disc coloboma with foveal hypoplasia [Figure 1]. Cycloplegic retinoscopy reflex was normal for BEs. MRI brain showed cerebellar-vermian aplasia/hypoplasia [Figure 2]a, bat-wing appearance of fourth ventricle [Figure 2]b, and molar-tooth-sign of superior cerebellar peduncles s/o JS [Figure 2]c. Hormonal profile, echocardiography, and renal profile were normal. Parents were counseled regarding the visual prognosis. Genetic counseling was performed. Vision stimulation was advised for the child.
Figure 1: Coloured Fundus photograph showing disc coloboma with foveal hypoplasia in 11.month old child with Joubert syndrome

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Figure 2: MRI brain sections in our patient of Joubert Syndrome showing (a) mid-sagittal T2- weighted image with incomplete down growth of vermis (solid arrow) and widening of interpeduncular fossa (asterisk) corresponding to midbrain hypoplasia; (b) axial T2- weighted image at level of pons showing “bat wing” morphology of fourth ventricle (solid arrow); (c) axial section T1-weighted image with characteristic “Molar tooth appearance” of mid-brain due to elongated superior cerebellar peduncles (solid arrows) and deep interpeduncular fossa (open arrow head)

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  Discussion Top

The first diagnosis of JS was made by Marie Joubert in 1969 on a 6-month-old infant with an abnormal, rapid breathing pattern and developmental delay.[1] Although there are various modes of inheritance, most cases of JS are sporadic followed by autosomal recessive pattern.[2] The specific gene is located on chromosome 6q23.2-q23.3.[3] Although no specific diagnostic criteria have been set, there are characteristic abnormalities on MRI indicating JS: 1. Hypoplasia of the cerebellum vermis giving “Bat-wing” appearance of fourth ventricle 2. Increase in the depth and length of the interpeduncular fossa, decrease in the isthmus width “Molar-tooth sign” 3. Cerebellar peduncles oriented vertical to brainstem rather than laterally.[4],[5] These children present with cognitive deficits, ataxia, visuomotor delays, ocular, cardiac, and renal impairment resulting in early death. The hyperpnoea in infants with JS often leads to a misdiagnosis of transient tachypnea of newborn.[6] coloboma that involves choroid, neurosensory retina, and retinal pigment epithelium are rare associations of JS.[7] JS patients require a multidisciplinary approach and careful monitoring for associated medical conditions. Physiotherapy, occupational rehabilitation, and speech therapy may improve the hypotonia and reduce the delay in achieving motor milestones.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813-25.  Back to cited text no. 1
Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 2004;36:1008-13.  Back to cited text no. 2
Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet 2008;51:1-23.  Back to cited text no. 3
Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, et al. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. Eur J Med Genet 2016;59:386-91.  Back to cited text no. 4
Choh SA, Choh NA, Bhat SA, Jehangir M. MRI findings in Joubert syndrome. Indian J Pediatr 2009;76:231-5.  Back to cited text no. 5
Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis 2010;5:20.  Back to cited text no. 6
Wang SF, Kowal TJ, Ning K, Koo EB, Wu AY, Mahajan VB, et al. Review of ocular manifestations of Joubert syndrome. Genes (Basel) 2018;9:605.  Back to cited text no. 7


  [Figure 1], [Figure 2]


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