|Year : 2023 | Volume
| Issue : 2 | Page : 563
Isolated optic disc coloboma: A rare presentation
Seema Meena, Nikhil Agrawal, Abhishek Sheeemar, Kavita Bhatnagar, Kirti J Singh
Department of Ophthalmology, AIIMS, Jodhpur, Rajasthan, India
|Date of Submission||16-Jul-2022|
|Date of Acceptance||07-Dec-2022|
|Date of Web Publication||28-Apr-2023|
Assistant Professor, Room No 3116 AIIMS Academic Block, AIIMS, Jodhpur, Rajasthan
Source of Support: None, Conflict of Interest: None
Keywords: Coloboma, isolated, optic disc
|How to cite this article:|
Meena S, Agrawal N, Sheeemar A, Bhatnagar K, Singh KJ. Isolated optic disc coloboma: A rare presentation. Indian J Ophthalmol Case Rep 2023;3:563
|How to cite this URL:|
Meena S, Agrawal N, Sheeemar A, Bhatnagar K, Singh KJ. Isolated optic disc coloboma: A rare presentation. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 5];3:563. Available from: https://www.ijoreports.in/text.asp?2023/3/2/563/374904
A 22-year-old male presented to us with decreased vision in left eye since early childhood without any previous history of systemic illness and trauma. On examination, his best corrected visual acuity (BCVA) was 6/6 in right eye and no light perception in left eye. There was exotropia of left eye with normal extraocular movements. Slit-lamp biomicroscopic examination showed normal anatomical anterior segment in both the eyes. However, there was afferent pupillary defect in the left eye. On fundus examination, OD was within normal limits, but OS showed excavation of optic disk with ill-defined disk margins and vessels were seen emanating from it [Figure 1]a and [Figure 1]b. On the basis of above findings and lack of macular and retinochoroidal involvement, the diagnosis of isolated optic disk coloboma was made, for which the patient underwent multimodal retinal imaging [Figure 1]c, [Figure 1]d, [Figure 1]e, [Figure 1]f.
|Figure 1: (a) Colored fundus picture OD showing normal-sized disk and healthy macula. (b) Fundus image of OS showing large size disk with neuroretinal rim and vessels in upper one-sixth of the disk and rest of the disk is colobomatous. (c) FAF OS shows a hyperfluorescent area occupying the majority of the optic nerve head, corresponding to the disk coloboma. (d) Fundus fluorescein angiography (FFA) OS shows staining of only the healthy part of the ONH. The colobomatous part is hypofluorescent. (e) OCT macula OS shows healthy macula. (f) OCT ONH OS shows a sharp curve in the area of optic disk coloboma (arrow). OCT = optical coherence tomography, ONH = optic nerve head|
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| Discussion|| |
Optic disc coloboma is a rare developmental anomaly occurring due to incomplete closure of embryonic fissure and presents with extensive excavation at disc., One of the common differentials is morning glory disk, which usually shows a central glial tuft with radially emerging vessels with peripapillary pigmentary changes. Our case is unique as optic disk colobomas are typically associated with microphthalmos, iris coloboma, ciliary coloboma, lens notching, or systemic abnormalities. However, none of the features was present in our case. Furthermore, we demonstrated findings of various modalities of retinal imaging in case in isolated case of optic disk coloboma.
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.
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