- Atrophic fundus lesion (HP:0001099): 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: IEA. (OMIM:204000)
- 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: 3/5. (PMID:16505055)
- Hyperthreoninemia (HP:0003354): The concentration of threonine in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:204000)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 1/5. (PMID:16505055)
- Eye poking (HP:0001483): Repetitive pressing, poking, and/or rubbing in the eyes. Evidence: PCS. Frequency: 2/6. Onset: Infantile onset (HP:0003593). (PMID:16505055)
- Pigmentary retinopathy (HP:0000580): 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:204000)
- Hyperthreoninuria (HP:0003296): An increased concentration of threonine in the urine. Evidence: IEA. (OMIM:204000)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:204000)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/6. (PMID:16505055)
- Optic disc drusen (HP:0012426): Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. Evidence: PCS. Frequency: 1/6. (PMID:16505055)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 6/6. (PMID:16505055)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:204000)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:204000)
- Blindness (HP:0000618): 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: PCS. Frequency: 2/6. (PMID:16505055)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 1/5. (PMID:16505055)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 6/6. (PMID:16505055)
- 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:204000)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:204000)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 2/6. (PMID:16505055)
- Intellectual disability (HP:0001249): 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: IEA. (OMIM:204000)
- Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654): Decreased amplitude of eletrical response upon electroretinography. Evidence: PCS. (PMID:16505055)
These phenotypes are associated with the disease Leber congenital amaurosis 1 (OMIM:204000).