- Optic nerve misrouting (HP:0025551): Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). Evidence: IEA. (OMIM:609218)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 9/9. (PMID:24045842)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 6/9. (PMID:24045842)
- Axenfeld anomaly (HP:0001492): Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:609218)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 9/9. (PMID:24045842)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 9/9. Onset: Infantile onset (HP:0003593). (PMID:24045842)
- Posterior embryotoxon (HP:0000627): A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:609218)
- Foveal hyperpigmentation (HP:0008001): Increased amount of pigmentation in the fovea. Evidence: IEA. (OMIM:609218)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: PCS. Frequency: 9/9. (PMID:24045842)
- 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:24045842)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:609218)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 9/9. Onset: Infantile onset (HP:0003593). (PMID:24045842)
- Alternating esotropia (HP:0001137): Esotropia in which either eye may be used for fixation. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:609218)
These phenotypes are associated with the disease foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome (OMIM:609218).