- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 10/28. (PMID:33465056)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/28. (PMID:33465056)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 17/28. (PMID:33465056)
- Retinal nerve fiber edema (HP:0020120): Swelling (edema) of the retinal nerve fibers. Evidence: PCS. (PMID:33465056)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:33465056)
- Reduced visual acuity (HP:0007663). Evidence: PCS. (PMID:33465056)
- Retinal telangiectasia (HP:0007763): Localized, irregular dilatation of small tortuous intraretinal blood vessels. Evidence: PCS. (PMID:33465056)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: PCS. Frequency: 24/29. (PMID:33465056)
- Central retinal vessel vascular tortuosity (HP:0007768): The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). Evidence: PCS. (PMID:33465056)
These phenotypes are associated with the disease Leber-like hereditary optic neuropathy, autosomal recessive 1 (OMIM:619382).