TNOA Journal of Ophthalmic Science and Research

PHOTO ESSAY
Year
: 2021  |  Volume : 59  |  Issue : 1  |  Page : 101--102

Bilateral macular coloboma viewed through multimodal imaging


Akruti Gunderia, Vinit Jayendra Shah, Syed Mohideen Abdul Khadar, Syed Saifuddin Adeel, Aditya Ghorpade, Shobita Nair 
 Department of Retina and Vitreous, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India

Correspondence Address:
Dr. Akruti Gunderia
Department of Retina and Vitreous, Aravind Eye Hospital, Tirunelveli, Tamil Nadu
India

Abstract

A 55-year-old female presented with a defective vision since childhood. The fundus examination revealed a well-demarcated macular excavation of 2 1/2 disc diameters. Optical coherence tomography (OCT) of both eyes revealed a bowl-like depression at the macula, absence of retinal pigment epithelium, and choroid with atrophic neurosensory retina. She was diagnosed as a case of bilateral macular coloboma. We wish to stress OCT and multimodal imaging's importance to diagnose macular colobomas and differentiate it from other disorders of the macula.



How to cite this article:
Gunderia A, Shah VJ, Khadar SM, Adeel SS, Ghorpade A, Nair S. Bilateral macular coloboma viewed through multimodal imaging.TNOA J Ophthalmic Sci Res 2021;59:101-102


How to cite this URL:
Gunderia A, Shah VJ, Khadar SM, Adeel SS, Ghorpade A, Nair S. Bilateral macular coloboma viewed through multimodal imaging. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 Dec 3 ];59:101-102
Available from: https://www.tnoajosr.com/text.asp?2021/59/1/101/312296


Full Text



 Introduction



Macular coloboma is an atypical coloboma attributed mainly to genetic factors and intrauterine infections. Knowledge of various macular disorders that are phenotypically similar and encompass the differential diagnosis of macular coloboma is important. Multimodal imaging including optical coherence tomography (OCT), fundus autofluorescence and fundus photography is a beneficial tool to make a diagnosis because it can reveal a subtle defect of the neurosensory retina and choroid which may be missed otherwise.

 Case Report



A 55-year-old female presented with a defective vision since childhood, which had increased in intensity for 1 month. Best-corrected visual acuity was 6/18 in the right eye and 6/24 in the left eye. The anterior segment showed an immature senile cataract in both eyes (BE). Fundus examination revealed a well-demarcated macular excavation of 2 1/2 disc diameter, underlying scleral baring with hyper- and hypopigmented areas in BE as seen in multimodal images [Figure 1]a and [Figure 1]b. Autofluorescence images showed a central hypoautofluorescent lesion in BE [Figure 1]c and [Figure 1]d. Optical coherence tomography (OCT) of BE revealed a bowl-like depression at the macula, absence of retinal pigment epithelium (RPE) and choroid, atrophic neurosensory retina, and increased reflectivity corresponding to the sclera [Figure 2]a and [Figure 2]b. She was diagnosed as a case of bilateral macular coloboma and advised cataract surgery under guarded visual prognosis. She was also counseled about the risk of retinal detachment and its symptoms and asked to review 6 monthly in our clinic.{Figure 1}{Figure 2}

 Discussion



Macular coloboma is an excavated macular lesion due to absent or rudimentary retinal tissue.[1] Coloboma is typical when located in the meridian of the fetal fissure and is atypical when located elsewhere, for example, macular colobomas.[2]

Intrauterine choroiditis may result in macular coloboma.[3] Cases of congenital macular coloboma, which are familial and bilateral, have also been described.[4] Arguments have also been advanced in favor of macular coloboma as a localized choroideremia.[4]

OCT is useful for diagnosing macular coloboma. It reveals a crater-like depression in the macula, with atrophic neurosensory retina, and an absence of RPE and choroid in the lesion,[2] as seen in our case. A bowl-shaped punched out morphology with a shelving edge has also been described.[5]

Macular colobomas may be confused with postinflammatory scarring resulting from ocular toxoplasmosis;[6] but bilaterality points more toward a developmental or degenerative defect. Macular colobomas must also be distinguished from macular dystrophies such as Sorsby macular dystrophy, North Carolina macular dystrophy, central areolar choroidal dystrophy, cone degenerations, and dominant foveal dystrophy.[2],[6] These conditions do not show characteristic OCT features of a crater-like or bowl-shaped deformity with absence of RPE and choroid as seen in macular colobomas.

Thus, as far as macular colobomas are concerned, the history, fundus picture, along with OCT and multimodal imaging, offers the best means to arrive at a diagnosis.

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

1El Bahloul M, Chraïbi F, Mohammed M, Abdellaoui M, Benatiya I. Unilateral macular coloboma: About a case. Pan Afr Med J 2017;28:55.
2Oh JY, Yu YS, Hwang JM, Park KH. Optical coherence tomographic finding in a case of macular coloboma. Korean J Ophthalmol 2007;21:175-7.
3Mann IC. On certain abnormal conditions of the macular region usually classed as colobomata. Br J Ophthalmol 1927;11:99-116.
4Sorsby A. Congenital coloboma of the macula: Together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet. Br J Ophthalmol 1935;19:65-90.
5Hussain N, Mohan Ram LS. Optical coherence tomographic features of unilateral macular coloboma. Indian J Ophthalmol 2007;55:321-2.
6Mathew DJ. Bilateral macular colobomata: Temporal dragging of optic disc. Indian J Ophthalmol 2015;63:348-50.