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Myriad of congenital excavated optic disc anomalies in achondroplasia
  1. Srishti Khullar,
  2. Vikas Ambiya,
  3. Gaurav Kapoor and
  4. Vijay K Sharma
  1. Ophthalmology, Armed Forces Medical College, Pune, India
  1. Correspondence to Dr Vikas Ambiya; vikasambiya{at}gmail.com

Abstract

Achondroplasia is a genetic condition resulting from specific disruptions in the formation of endochondral bone. Telecanthus, exotropia, angle anomalies and cone–rod dystrophy have been observed as associated ophthalmic features in patients with achondroplasia. Here, we present a case of achondroplasia associated with unique ocular features including telecanthus, esotropia and bilateral microphthalmos. Fundus evaluation revealed a distinctive combination of optic disc anomalies, namely, optic disc coloboma, morning glory disc and optic disc pit maculopathy, along with retroorbital cysts. This represents the first reported case of such a combination of ocular anomalies in achondroplasia.

  • Retina
  • Macula

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Footnotes

  • 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: VA, SK, GK and VKS. The following authors gave final approval of the manuscript: VA, SK, GK and VKS. VA is responsible for the overall content as guarantor.

  • 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.