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Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination
  1. Noopur Gupta1,
  2. Arnav Panigrahi1,
  3. Neerja Gupta2 and
  4. Seema Sen3
  1. 1Ophthalmology, All India Institute of Medical Sciences, New Delhi, India
  2. 2Medical Genetics, All India Institute of Medical Sciences, New Delhi, India
  3. 3Ocular Pathology, All India Institute of Medical Sciences, New Delhi, India
  1. Correspondence to Dr Arnav Panigrahi, Ophthalmology, All India Institute of Medical Sciences, New Delhi, India; arnav.888panigrahi{at}gmail.com

Abstract

A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 (CHST6) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge.

  • Retina
  • Anterior chamber

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Footnotes

  • NG and AP are joint first authors.

  • NG and AP contributed equally.

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: NoG, AP, NeG and SS. The following authors gave final approval of the manuscript: NoG and AP.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.