Double ring sign of optic nerve head is a characteristic fundus finding in cases with optic nerve head hypoplasia (ONH).[1] ONH has been associated with congenital intracranial anomalies like thinning of corpus callosum, absence of septum pellucidum and pituitary ectopia.[2,3] A 6-year-old male child without any significant perinatal or endocrinological history, presented with vision OD 6/6 and OS 6/18, normal anterior segments and unilateral ONH in OS [Fig. 1a]. Ratio of disc-macula distance to disc-diameter i.e., DM/DD was 3.2 (more than 3 is suggestive of ONH[4]). The MRI revealed hypoplasia of left optic nerve [Fig. 1b] and thinning of corpus callosum [Fig. 1c]. ‘De Morsier's syndrome’ was ruled out due to normal endocrinological function and normal septum pellucidum. ONH has an incidence of 1/2287 live births, and 2.4/100,000 in children less than 19-year-old.[5] The differential diagnosis of ONH include optic nerve atrophy, optic nerve coloboma, morning glory anomaly, tilted disc syndrome, and glaucoma.
Figure 1.
Fundus picture of left eye (a) depicting characteristic double ring sign (black arrows) of optic nerve head, coronal section of MRI (b) showing mild hypoplasia of left optic nerve (white arrow), sagittal section of MRI (c) showing thinning of distal body (white triangle) and splenium (white arrow) of corpus callosum
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 The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
References
- 1.Kaur S, Jain S, Sodhi HBS, Rastogi A, Kamlesh Optic nerve hypoplasia. Oman J Ophthalmol. 2013;6:77–82. doi: 10.4103/0974-620X.116622. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 2.Garcia-Filion P, Borchert M. Optic nerve hypoplasia syndrome: A review of the epidemiology and clinical associations. Curr Treat Options Neurol. 2013;15:78–89. doi: 10.1007/s11940-012-0209-2. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 3.Garcia ML, Ty EB, Taban M, David RA, Rogers D, Traboulsi EI. Systemic and ocular findings in 100 patients with optic nerve hypoplasia. J Child Neurol. 2006;21:949–56. doi: 10.1177/08830738060210111701. [DOI] [PubMed] [Google Scholar]
- 4.Alvarez E, Wakakura M, Khan Z, Dutton GN. The disc-macula distance to disc diameter ratio: A new test for confirming optic nerve hypoplasia in young children. J Pediatr Ophthalmol Strabismus. 1988;25:151–4. doi: 10.3928/0191-3913-19880501-11. [DOI] [PubMed] [Google Scholar]
- 5.Mohney BG, Young RC, Diehl N. Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia. JAMA Ophthalmol. 2013;131:898–902. doi: 10.1001/jamaophthalmol.2013.65. [DOI] [PMC free article] [PubMed] [Google Scholar]