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

Bilateral macular coloboma viewed through multimodal imaging


Department of Retina and Vitreous, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India

Date of Submission09-Oct-2020
Date of Decision27-Dec-2020
Date of Acceptance28-Dec-2020
Date of Web Publication27-Mar-2021

Correspondence Address:
Dr. Akruti Gunderia
Department of Retina and Vitreous, Aravind Eye Hospital, Tirunelveli, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_153_20

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  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.

Keywords: Atypical coloboma, bilateral, macular coloboma, multimodal imaging, optical coherence tomography


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;59:101-2

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 1];59:101-2. Available from: https://www.tnoajosr.com/text.asp?2021/59/1/101/312296




  Introduction Top


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 Top


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: Multimodal images and autofluorescence images of both eyes. Fundus image showing a well-demarcated macular excavation and underlying scleral baring with hyper- and hypopigmented areas in the right eye (a) and left eye (b). Autofluorescence images showing a central hypoautofluorescent lesion in the right eye (c) and left eye (d)

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Figure 2: Optical coherence tomography of both eyes revealing a bowllike depression at the macula, absence of retinal pigment epithelium and choroid, atrophic neurosensory retina, and increased reflectivity corresponding to the sclera. More prominent in the right eye (a) as compared to the left eye (b)

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  Discussion Top


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 Top

1.
El Bahloul M, Chraïbi F, Mohammed M, Abdellaoui M, Benatiya I. Unilateral macular coloboma: About a case. Pan Afr Med J 2017;28:55.  Back to cited text no. 1
    
2.
Oh JY, Yu YS, Hwang JM, Park KH. Optical coherence tomographic finding in a case of macular coloboma. Korean J Ophthalmol 2007;21:175-7.  Back to cited text no. 2
    
3.
Mann IC. On certain abnormal conditions of the macular region usually classed as colobomata. Br J Ophthalmol 1927;11:99-116.  Back to cited text no. 3
    
4.
Sorsby 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.  Back to cited text no. 4
    
5.
Hussain N, Mohan Ram LS. Optical coherence tomographic features of unilateral macular coloboma. Indian J Ophthalmol 2007;55:321-2.  Back to cited text no. 5
[PUBMED]  [Full text]  
6.
Mathew DJ. Bilateral macular colobomata: Temporal dragging of optic disc. Indian J Ophthalmol 2015;63:348-50.  Back to cited text no. 6
[PUBMED]  [Full text]  


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