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Bradley Jacobsen, Moussa A. Zouache, Margaret M DeAngelis, Paul S Bernstein; A multi-generational family affected by cavitary optic disc anomaly. Invest. Ophthalmol. Vis. Sci. 2020;61(7):2696.
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© ARVO (1962-2015); The Authors (2016-present)
An optic nerve pit (ONP) is an excavation of the optic disc that usually presents unilaterally and in the inferotemporal quadrant of the nerve head (Figure 1). Vision loss attributable to ONPs manifests as an adult-onset maculopathy secondary to a serous retinal detachment or cystoid macular edema. There are no particular risk factors, however, there have been reports that demonstrate an autosomal dominant inheritance pattern. The term cavitary optic disc anomaly (CODA) describes an autosomal dominant pedigree with a range of optic disc abnormalities.
Eight affected and ten unaffected family members of a multi-generation pedigree were phenotyped by visual acuity, intraocular pressure, dilated fundus examination, fundus photography, and optical coherence tomography (Figure 2). Whole genome sequencing was performed on five individuals (four affected and one unaffected).
This multi-generation pedigree contains at least 4 generations of individuals affected with CODA. Whole genome sequencing revealed that the affected individuals do not have the same copy number alteration (CNA) described in previous studies.
Until recently it has been suggested that most optic nerve anomalies are congenital. However, recent studies have shown that, in fact, CODA is an inherited optic disc anomaly. This is important as certain therapies can be directed at preventing maculopathy leading to improved visual outcomes. We hope that our study will further the knowledge of CODA. Future work will focus on analyzing the genetic data for these patients to hopefully identify a unique genetic mutation.
This is a 2020 ARVO Annual Meeting abstract.
Figure 1: Optic nerve photograph of the left eye from one of our affected family members showing an inferotemporal excavation of the optic nerve head.
Figure 2: Pedigree of family with cavitary optic disc anomaly. Clinically affected individuals are represented by black symbols, presumably affected individuals are represented by gray symbols and unaffected individuals are represented by open symbols. Examined individuals are marked with asterisks (*).
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