Phenotypes associated with the disease Leber congenital amaurosis 9 (OMIM:608553):
- Spicular pigmentation of the retina (HP:0007737): Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). Evidence: PCS. Frequency: 1/11. (PMID:22842231)
- Retinal pigment epithelial mottling (HP:0007814): Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium. Evidence: PCS. Frequency: 4/11. (PMID:22842231)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 2/18. (PMID:22842230;PMID:22842231)
- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: PCS. Frequency: 1/8. (PMID:22842230)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 6/7. (PMID:22842230)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 8/9. (PMID:22842231)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 12/18. (PMID:22842230;PMID:22842231)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/9. (PMID:22842231)
- Ultra-low vision with retained light perception (HP:0032286): Ultra-low vision but with retained ability to perceive the difference between light and dark. Evidence: PCS. Frequency: 7/11. (PMID:22842231)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:608553)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 27/27. (PMID:22842230;PMID:22842231)
- Macular atrophy (HP:0007401): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: PCS. Frequency: 5/11. (PMID:22842231)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 16/21. (OMIM:608553;PMID:22842231)
- Macular hypopigmentation (HP:0007988): Decreased amount of pigmentation in the macula. Evidence: PCS. Frequency: 1/11. (PMID:22842231)
- Undetectable electroretinogram (HP:0000550): Lack of any response to stimulation upon electroretinography. Evidence: PCS. Frequency: 2/11. (PMID:22842231)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 1/11. (PMID:22842231)
- Eye poking (HP:0001483): Repetitive pressing, poking, and/or rubbing in the eyes. Evidence: PCS. Frequency: 1/11. (PMID:22842231)
- Ultra-low vision (HP:0032123): Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590). Evidence: PCS. Frequency: 1/11. (PMID:22842231)
- Retinal dots (HP:0032027): Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Evidence: PCS. Frequency: 8/8. (PMID:22842230)
- 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:22842230)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. (OMIM:608553)
- Macular scar (HP:0200056): Fibrous connective tissue consequent upon healing of a wound (i.e., a scar) located in the macula. Evidence: PCS. Frequency: 1/11. (PMID:22842231)
- Optic disc pallor (HP:0000543): 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: 12/21. (OMIM:608553;PMID:22842231)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: PCS. Frequency: 1/11. (PMID:22842231)
- Macular pseudocoloboma (HP:0001116): A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects. Evidence: PCS. Frequency: 19/19. (PMID:22842230;PMID:22842231)