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Case Reports: Rare disease
Ocular features of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
  1. Aafreen Bari1,
  2. Asjad Mahmood2,
  3. Rohan Chawla1 and
  4. Rajesh Sinha1
  1. 1Ophthalmology, All India Institute of Medical Sciences, New Delhi, Delhi, India
  2. 2Orthopedics, All India Institute of Medical Sciences, New Delhi, India
  1. Correspondence to Dr Aafreen Bari; aafreen.aiims{at}gmail.com

Abstract

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a multisystemic rare genetic disorder characterised by abnormalities of the immune system. We report the ocular features of APECED in two siblings of an Indian family, out of four who are still living. The ocular features of this disorder primarily included madarosis, refractive error, heterochromia, corneal opacity and peripheral retinal pigment epithelium degeneration. There is marked phenotypical heterogeneity in this disorder. We found differences even between monozygotic twins. While one of the twins did not have any ocular issues, the other one did. The child with corneal involvement was the most symptomatic; however, it did not lead to visual impairment. On genetic workup, homozygous p.M1V mutation was found in exon 1 of AIRE gene that has not been studied in Indian subjects with APECED. To the best of our knowledge, there is no report in literature describing ocular features of APECED in an Indian family with distinctive genetic involvement.

  • Ophthalmology
  • Paediatrics
  • Dermatology

https://doi.org/10.1136/bcr-2022-252672

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigating results, drawing original diagrams and algorithms, and critical revision for important intellectual content—AB, AM, RC and RS. The following authors gave final approval of the manuscript—AB, AM, RC and RS.

    • 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.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.