Phenotypes associated with the disease severe early-childhood-onset retinal dystrophy (OMIM:248200):
- Undetectable electroretinogram (HP:0000550): Lack of any response to stimulation upon electroretinography. Evidence: PCS. Frequency: 3/5. (PMID:16546111)
- Abnormal amplitude of light-adapted flicker electroretinogram (HP:0030479). Evidence: PCS. Frequency: 52/162. (PMID:12799240)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 5/5. (PMID:16546111)
- 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. (PMID:12799240)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 1/1. (PMID:16546111)
- Dark choroid (HP:0025148): A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). Evidence: PCS. Frequency: 64/103. (PMID:12799240)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: PCS. (PMID:12799240)
- 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. Frequency: 20/20. (PMID:16546111;PMID:12799240)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 15/15. (PMID:16546111;PMID:12799240)
- Abnormal amplitude of light-adapted single flash electroretinogram (HP:0030481). Evidence: PCS. Frequency: 42/162. (PMID:12799240)
- Bull's eye maculopathy (HP:0011504): Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board. Evidence: PCS. (PMID:18024811)
- 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. (PMID:12799240)