Familial Optic Disc Pits in 2 Father-Son Pairs: Clinical Features and Genetic Analysis

Devin Betsch, Andrew Orr, Mathew Nightingale, Daniel Gaston, Rishi Gupta

Research output: Contribution to journalArticlepeer-review

Abstract

Congenital optic disc pits (ODPs) are well-circumscribed depressions within the optic disc. Thought to arise from anomalous closure of the optic fissure during embryonic development, they are now considered to lie on a broader spectrum of congenital optic disc anomaly (CODA). An increasing number of reports describe clustering of these cases within families, suggesting that inherited genetic elements play a role in disease predisposition. Here, we highlight the clinical features of 2 sets of father-son pairs affected with ODPs and provide preliminary molecular genetic analysis. Subjects underwent complete ophthalmological examination and imaging. In addition, whole-exome sequencing was carried out following informed consent. The resulting datasets were examined for potentially causal genetic variants, both in genes already known to be linked to CODA as well as those likely to lie in the same or similar genetic pathways. In this instance, no unambiguously causal variants were identified. This case series highlights the familial inheritance of ODPs, adding to the existing body of literature supporting an underlying genetic cause for this rare clinical entity. The inclusion here of specific molecular findings raises the hope that the genetic pathophysiology underlying rare entities like ODPs might be clarified in the future by the addition of similarly molecular-documented reports.

Original languageEnglish
Pages (from-to)603-610
Number of pages8
JournalCase Reports in Ophthalmology
Volume12
Issue number2
DOIs
Publication statusPublished - Jul 1 2021

Bibliographical note

Funding Information:
Funding for this project was provided by the Dalhousie University Ophthalmology Research Group. These funds were used for whole-exome sequencing costs. The research group had no role in the preparation of data or this manuscript.

Publisher Copyright:
© 2021

ASJC Scopus Subject Areas

  • Ophthalmology

PubMed: MeSH publication types

  • Case Reports

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