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

Autor: Betsch D; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada., Orr A; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada.; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada., Nightingale M; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada., Gaston D; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada., Gupta R; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada.
Jazyk: angličtina
Zdroj: Case reports in ophthalmology [Case Rep Ophthalmol] 2021 Jul 01; Vol. 12 (2), pp. 603-610. Date of Electronic Publication: 2021 Jul 01 (Print Publication: 2021).
DOI: 10.1159/000515972
Abstrakt: 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.
Competing Interests: D.B., A.O., M.N., D.G., and R.R.G. have no conflicts of interest to disclose.
(Copyright © 2021 by S. Karger AG, Basel.)
Databáze: MEDLINE
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