- Cerebellar vermis hypoplasia (HP:0001320, a Human Phenotype Ontology term): Underdevelopment of the vermis of cerebellum. Evidence: IEA. (OMIM:204100)
- Atrophic fundus lesion (HP:0001099, a Human Phenotype Ontology term): Well-defined or diffused area or lesion of loss of normal retinal tissue; this is often illustrated by greyish discoloration of fundus and/or better visible choroidal vasculature on funduscopy. Evidence: PCS. Frequency: 1/13. (PMID:12960219)
- Keratoconus (HP:0000563, a Human Phenotype Ontology term): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: PCS. Frequency: 0/1. (PMID:16505055)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 14/14. (PMID:12960219;PMID:16505055)
- Eye poking (HP:0001483, a Human Phenotype Ontology term): Repetitive pressing, poking, and/or rubbing in the eyes. Evidence: IEA. (OMIM:204100)
- Pigmentary retinopathy (HP:0000580, a Human Phenotype Ontology term): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: IEA. (OMIM:204100)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 14/14. (PMID:12960219;PMID:16505055)
- Absent foveal reflex (HP:0030825, a Human Phenotype Ontology term): Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. Evidence: PCS. Frequency: 6/13. (PMID:12960219)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 0/13. (PMID:12960219)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 1/1. (PMID:16505055)
- Blindness (HP:0000618, a Human Phenotype Ontology term): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: IEA. (OMIM:204100)
- Photophobia (HP:0000613, a Human Phenotype Ontology term): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 0/14. (PMID:12960219;PMID:16505055)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:12960219)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 14/14. (PMID:12960219;PMID:16505055)
- Optic disc pallor (HP:0000543, a Human Phenotype Ontology term): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: PCS. Frequency: 9/13. (PMID:12960219)
- Undetectable light- and dark-adapted electroretinogram (HP:0007688, a Human Phenotype Ontology term): Absence of the combined rod-and-cone response on electroretinogram. Evidence: PCS. Frequency: 13/13. (PMID:12960219)
- Attenuation of retinal blood vessels (HP:0007843, a Human Phenotype Ontology term): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 13/13. (PMID:12960219;PMID:16505055)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 2/13. (PMID:12960219)
These phenotypes are associated with the disease Leber congenital amaurosis 2 (OMIM:204100, an entry in Online Mendelian Inheritance in Man).