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PHOTO ESSAY
Year : 2021  |  Volume : 1  |  Issue : 2  |  Page : 202-203

A glitch in the developmental matrix: Optic disc coloboma with serous retinal detachment


1 Department of Cataract and Refractive Surgery, Mahathma Eye Hospital Private Limited, Trichy, Tamil Nadu, India
2 Department of Glaucoma and Researchm, Mahathma Eye Hospital Private Limited, Trichy, Tamil Nadu, India
3 Department of Paediatric Ophthalmology and Strabismus, Mahathma Eye Hospital Private Limited, Trichy, Tamil Nadu, India
4 Department of Vitreo-Retinal Services, Aravind Eye Care System, Coimbatore, Tamil Nadu, India

Date of Submission05-Sep-2020
Date of Acceptance27-Oct-2020
Date of Web Publication01-Apr-2021

Correspondence Address:
Dr. Prasanna Venkatesh Ramesh
Mahathma Eye Hospital Pvt. Ltd., No.6, Sesphapuram, Thennur, Trichy - 620 017, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_2880_20

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  Abstract 


Keywords: Optic disc coloboma, retinal detachment, subretinal fluid


How to cite this article:
Ramesh SV, Ramesh PV, Rajasekaran R, Ramesh MK, Balamurugan A. A glitch in the developmental matrix: Optic disc coloboma with serous retinal detachment. Indian J Ophthalmol Case Rep 2021;1:202-3

How to cite this URL:
Ramesh SV, Ramesh PV, Rajasekaran R, Ramesh MK, Balamurugan A. A glitch in the developmental matrix: Optic disc coloboma with serous retinal detachment. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Apr 20];1:202-3. Available from: https://www.ijoreports.in/text.asp?2021/1/2/202/312400




  Case Report Top


A 40-year-old male patient came for routine evaluation with no specific complaints. Fundus evaluation right eye (OD) incidentally revealed an optic disc coloboma with a wedge of normal disc tissue superiorly and clearly demarcated pigmentary retinal changes suggestive of long-standing subretinal fluid (SRF) collection. Shallow retinal detachments (RDs) in macula can be easily missed clinically unless routine optical coherence tomography (OCT) is performed during follow up visits. Unrecognized film of SRF over long time can lead to permanent changes. Also, RD secondary to colobomas are notoriously known for their recurrences following treatment. Based on the clinical features, various combinations of therapies including vitrectomy, limited laser to the optic nerve head (ONH) margin, long-acting tamponade, peeling of the posterior cortical vitreous, and scleral buckling may have been practiced.

A 40-year-old male patient came for routine evaluation with no specific complaints. On examination, he had a best-corrected visual acuity of 20/60 in the right eye (OD) and 20/20 in the left eye (OS). Fundus evaluation OD revealed an optic disc coloboma with a wedge of normal disc tissue superiorly and clearly demarcated pigmentary retinal changes suggestive of long-standing SRF collection [Figure 1]. The fellow eye (OS) was normal. Eidon wide-field confocal fundus imaging system (CenterVue, Italy) was utilized to capture a 110° field of the retina.
Figure 1: (a) Mosaic image OD showing optic disc coloboma with enlarged optic disc and normal retinal vasculature, with clearly demarcated pigmentary changes involving the macula and the inferotemporal arcade suggestive of long-standing subretinal fluid. (b) A white, glistening, bowl-shaped excavation, with circumferential thinning of neuroretinal rim and small area of normal disc tissue, which is confined to a superior wedge

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Fundus autofluorescence (FAF) and infrared imaging were obtained with Spectralis OCT (Heidelberg Engineering, Germany) and captured 55° field of the retina. They revealed hypo-autofluorescence and hyporeflectivity of optic disc, respectively [Figure 2]. FAF revealed hyper-autofluorescence of the macula and the long-standing damage to the retina. OCT ONH showed excavation of ONH [Figure 3]. OCT macula revealed serous RD involving the fovea depicting a possible conduit connecting the perineural space to subretinal space [Figure 4] The two possible sources are cerebrospinal fluid or vitreous cavity, which may be associated with some tractional forces.[1],[2] Scleral graft tucking into the colobomatous defect may be preferred, as lasers to the ONH margin adjacent to papillomacular bundle may not be a good option.
Figure 2: (a) Fundus autofluorescence (FAF) image showing hypo-autofluorescence of the coloboma cavity with hyper-autofluorescence changes in the macula. (b) Inverse color image of FAF. (c) Infrared (IR) reflectance image showing hyporeflectivity of the coloboma cavity. (d) Inverse color of IR image

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Figure 3: (a and b) OCT of optic nerve head showing optic disc excavation (red arrow)

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Figure 4: (a and b) OCT macula showing subretinal fluid collection in the subfoveal region extending to the temporal border of the optic disc (red arrows), depicting a possible conduit connecting the perineural space to the subretinal space

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  Discussion Top


Shallow RDs in macula may be missed clinically, unless routine OCTs are performed during follow-up visits. Unrecognized film of SRF over time can lead to permanent changes as evident on the autofluorescence images [Figure 2]. RD secondary to colobomas are notoriously known for their recurrences following treatment. Based on the clinical features various combination of therapies including vitrectomy, limited laser to the ONH margin, long-acting tamponade, peeling of the posterior cortical vitreous, and scleral buckling have been practiced.[3] Considering such unique presentation, OCT evaluation must be made mandatory as a routine part of investigation to identify such conditions and treat them appropriately.

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.
Chang S, Gregory-Roberts E, Chen R. Retinal detachment associated with optic disc colobomas and morning glory syndrome. Eye Lond Engl 2012;26:494-500.  Back to cited text no. 1
    
2.
Meirelles RL, Aggio FB, Costa RA, Farah ME. STRATUS optical coherence tomography in unilateral colobomatous excavation of the optic disc and secondary retinoschisis. Graefes Arch Clin Exp Ophthalmol 2005;243:76-81.  Back to cited text no. 2
    
3.
Ferrone PJ. Treatment of retinal detachment associated with optic nerve head coloboma. Journal of American Association for Pediatric Ophthalmology and Strabismus 2012;16(1):5.  Back to cited text no. 3
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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