- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:611543)
- Peripapillary atrophy (HP:0500087): Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:611543)
- Visual field defect (HP:0001123). Evidence: TAS. (OMIM:611543)
- Reduced visual acuity (HP:0007663). Evidence: TAS. (OMIM:611543)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:611543)
These phenotypes are associated with the disease familial cavitary optic disk anomaly (OMIM:611543).