Journal of Clinical and Diagnostic Research (May 2023)

Bilateral Congenital Macular Coloboma: A Case Report

  • Manisha Nada,
  • Kiranmai Garg,
  • Jitender Phogat,
  • Anjali Kharolia,
  • Surender Kumar

DOI
https://doi.org/10.7860/JCDR/2023/60961.17843
Journal volume & issue
Vol. 17, no. 5
pp. ND04 – ND06

Abstract

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Macular coloboma is a rare disorder with congenital retinochoroidal defect. It has been divided into three categories- Pigmented macular coloboma, non pigmented macular coloboma and macular coloboma with abnormal vessels. Here, the authors present two cases of bilateral congenital macular coloboma. The first case was a 25-year-old male with diminution of vision in both eyes since childhood with no associated family history and no history of any systemic illness. His serological investigations were unremarkable. Case-2 was a nine-year-old male who was accompanied by his mother with vague history of rubbing of both eyes since two months with no significant medical and family history. Patient was found to have diminished vision bilaterally during ophthalmological examination. No evidence of infectious disease could be found on laboratory investigations. Paediatric consultation of the patient was unremarkable. Diagnosis was made after correlating the clinical and Ocular Computed Tomography (OCT) findings. Case-1 is on regular follow-up since three years while Case-2 was lost to follow-up. It is very important to reach at a diagnosis in such cases as there are many conditions which can mimic macular coloboma and treatment modalities vary accordingly. Although visual prognosis in cases of macular coloboma is poor, regular follow-up of the patient is of utmost importance in order to monitor visual acuity and posterior segment for any retinal breaks at the edge of coloboma.

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