|Year : 2021 | Volume
| Issue : 3 | Page : 465
Developmental delay, vision impairment, and the “double-ring sign”
Vinodkumar M Kariyappa1, Bhanudeep Singanamalla2, Shweta Chaurasia3, Priyanka Madaan2, Lokesh Saini2, Sameer Vyas4
1 Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh, India
2 Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, PGIMER, Chandigarh, India
3 Department of Ophthalmology, Advanced Eye Centre, PGIMER, Chandigarh, India
4 Department of Radiodiagnosis and Imaging (Section of Neuroimaging and Interventional Radiology), PGIMER, Chandigarh, India
|Date of Web Publication||02-Jul-2021|
Dr. Lokesh Saini
Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh - 160 012
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Kariyappa VM, Singanamalla B, Chaurasia S, Madaan P, Saini L, Vyas S. Developmental delay, vision impairment, and the “double-ring sign”. Indian J Ophthalmol Case Rep 2021;1:465
|How to cite this URL:|
Kariyappa VM, Singanamalla B, Chaurasia S, Madaan P, Saini L, Vyas S. Developmental delay, vision impairment, and the “double-ring sign”. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Jul 26];1:465. Available from: https://www.ijoreports.in/text.asp?2021/1/3/465/320141
An 11-month-old boy presented with global developmental delay, poor eye-contact, and abnormal eye movements. Examination revealed normal head size, roving eye movements, absent pupillary reflex, and central hypotonia. Fundus examination revealed double-ring sign (DRS; [Figure 1]). Rest of the systemic examination was unremarkable. Neuroimaging revealed bilateral optic nerve hypoplasia (ONH), absent septum pellucidum, and abnormal configuration of sella with small pituitary [Figure 2]. Visual evoked potentials were absent. Multisensory stimulation and rehabilitative measures were initiated. DRS, along with small optic disc and tortuous vessels, is the hallmark of ONH. When ONH occurs in association with midline brain defects, septo-optic dysplasia (SOD) should be thought of. Misdiagnosis of SOD may be life-threatening, especially in the presence of pituitary hormone abnormalities that can occur at any age and are important to recognize to avoid acute decompensation.
|Figure 1: Fundus findings in the index patient. Fundus pictures showing a b a small pale tilted and crowded optic disc along with optic nerve hypoplasia in both right (a) and left (b) eye. Note decreased ratio of disc diameter to disc-macula distance (OD 0.25; OS 0.26). Both optic discs appear to be surrounded by double ring (double-ring sign) prominent on superior side of disc. The outer ring represents the normal junction between the sclera and the lamina cribrosa; the inner ring represents the abnormal extension of retina and retinal pigment epithelium over the outer portion of the lamina cribrosa|
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|Figure 2: Brain and orbit MRI of the index patient. Coronal (`) and axial (d) T2-weighted images showing hypoplasia of intra-orbital part of bilateral optic nerves (white arrows), absence of septum-pellucidum (black arrows), and squared frontal horns of lateral ventricles. Sagittal (c) T2-weighted image shows small, abnormally configured sella with small pituitary gland (white arrow)|
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Authors thank the parents of the patient for images and adding to the literature.
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
Conflicts of interest
There are no conflicts of interest.
| References|| |
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.
Brodsky MC, Conte FA, Taylor D, Hoyt CS, Mrak RE. Sudden death in septo-optic dysplasia. Report of 5 cases. Arch Ophthalmol 1997;115:66-70.
[Figure 1], [Figure 2]