- Constriction of peripheral visual field (HP:0001133): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: PCS. Frequency: 5/5. (PMID:37768732;PMID:39930170)
- 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: 2/2. (PMID:37768732;PMID:39930170)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 5/5. (PMID:37768732;PMID:39930170)
- Hypoautofluorescent retinal lesion (HP:0025159): Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. Evidence: PCS. Frequency: 2/2. (PMID:37768732)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 0/5. (PMID:37768732;PMID:39930170)
- Perifoveal ring of hyperautofluorescence (HP:0030629). Evidence: PCS. Frequency: 1/2. (PMID:37768732)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 1/3. (PMID:37768732)
- Moderate myopia (HP:0031624): A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters. Evidence: PCS. Frequency: 1/3. (PMID:37768732)
- Macular edema (HP:0040049): Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect. Evidence: PCS. Frequency: 0/4. (PMID:37768732)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/3. (PMID:37768732)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/4. (PMID:37768732;PMID:39930170)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 0/4. (PMID:37768732)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 0/5. (PMID:37768732;PMID:39930170)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/4. (PMID:37768732)
- 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:37768732)
- Undetectable light- and dark-adapted electroretinogram (HP:0007688): Absence of the combined rod-and-cone response on electroretinogram. Evidence: PCS. Frequency: 5/5. (PMID:37768732;PMID:39930170)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 0/5. (PMID:37768732;PMID:39930170)
- 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: 3/3. (PMID:37768732)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 3/3. (PMID:37768732;PMID:39930170)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: PCS. Frequency: 0/5. (PMID:37768732;PMID:39930170)
These phenotypes are associated with the disease retinitis pigmentosa 100 (OMIM:621280).