- 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: 1/3. (PMID:26494905)
- Decreased mean corpuscular volume (HP:0025066): A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). Evidence: PCS. Frequency: 3/3. (PMID:26494905)
- Elliptocytosis (HP:0004445): The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. Evidence: PCS. Frequency: 1/3. (PMID:26494905)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 3/3. (PMID:26494905)
- Epiretinal membrane (HP:0100014): An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina. Evidence: PCS. (PMID:26494905)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. (PMID:26494905)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/3. (PMID:26494905)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 2/3. (PMID:26494905)
- 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:26494905)
- Retinal atrophy (HP:0001105): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: PCS. Frequency: 3/3. (PMID:26494905)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/3. (PMID:26494905)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 0/3. (PMID:26494905)
- Photoreceptor layer loss on macular OCT (HP:0030609): Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. Evidence: PCS. Frequency: 3/3. (PMID:26494905)
- Ring scotoma (HP:0030529): An annular field defect centered on fixation. Evidence: PCS. (PMID:26494905)
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: PCS. Frequency: 2/3. (PMID:26494905)
- Intermediate young adult onset (HP:0025709): Onset of disease at an age of greater than or equal to 19 to under 25 years. Evidence: PCS. Frequency: 1/3. (PMID:26494905)
- Decreased circulating iron concentration (HP:0040303): The concentration of iron cation in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:26494905)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/3. (PMID:26494905)
- 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: 2/3. (PMID:26494905)
- Peripheral retinal atrophy (HP:0200070): A nonspecific term denoting wasting, especially as a result of degeneration, of the peripheral retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: PCS. Frequency: 2/3. (PMID:26494905)
- Hypochromia (HP:0032231): A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. Evidence: PCS. Frequency: 1/3. (PMID:26494905)
- 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:26494905)
- 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: 2/3. (PMID:26494905)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 0/3. (PMID:26494905)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. (PMID:26494905)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: PCS. Frequency: 1/3. (PMID:26494905)
These phenotypes are associated with the disease retinitis pigmentosa and erythrocytic microcytosis (OMIM:616959).