Phenotypes associated with the disease Stargardt disease 5 (OMIM:621259):
- Retinal flecks (HP:0012045): Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. Evidence: PCS. Frequency: 1/1. (PMID:37628710)
- Subretinal deposits (HP:0031528): Deposits accumulating between the outer retina and the retinal pigment epithelium. Evidence: PCS. Frequency: 1/1. (PMID:37628710)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/1. (PMID:37628710)
- Central thinning of the outer nuclear layer of the retina (HP:6000367): Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography. Evidence: PCS. Frequency: 1/1. (PMID:37628710)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: PCS. Frequency: 1/1. (PMID:37628710)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:37628710)
- 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:37628710)
- Mildly reduced visual acuity (HP:0032037): Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3. Evidence: PCS. Frequency: 1/1. (PMID:37628710)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: PCS. Frequency: 1/1. (PMID:37628710)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: PCS. Frequency: 1/1. (PMID:37628710)