Phenotypes associated with the disease Leber congenital amaurosis 14 (OMIM:613341):
- Undetectable electroretinogram (HP:0000550): Lack of any response to stimulation upon electroretinography. Evidence: IEA. (OMIM:613341)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: IEA. (OMIM:613341)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: IEA. (OMIM:613341)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: IEA. (OMIM:613341)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: IEA. (OMIM:613341)
- 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: IEA. (OMIM:613341)
- Reduced visual acuity (HP:0007663). Evidence: TAS. (OMIM:613341)
- Falls (HP:0002527). Evidence: IEA. (OMIM:613341)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: IEA. (OMIM:613341)
- Congenital blindness (HP:0007875): Blindness with onset at birth. Evidence: IEA. (OMIM:613341)
- 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: TAS. (OMIM:613341)
- Retinal dystrophy (HP:0000556): Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. Evidence: IEA. (OMIM:613341)
- Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654): Decreased amplitude of eletrical response upon electroretinography. Evidence: IEA. (OMIM:613341)