| HPO |
HP:0008323 |
Abnormal light- and dark-adapted electroretinogram |
"An abnormality of the combined rod-and-cone response on electroretinogram." [HPO:probinson] |
The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response. |
HP:0030466 |
| HPO |
HP:0000007 |
Autosomal recessive inheritance |
"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)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0000662 |
Nyctalopia |
"Inability to see well at night or in poor light." [HPO:probinson] |
— |
HP:0000504 |
| HPO |
HP:0007994 |
Peripheral visual field loss |
"Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." [HPO:probinson] |
— |
HP:0001133 |
| HPO |
HP:0007737 |
Bone spicule pigmentation of the retina |
"Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone)." [HPO:probinson] |
— |
HP:0000580 |
| HPO |
HP:0000510 |
Rod-cone dystrophy |
"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." [HPO:probinson, PMID:20212494] |
Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. |
HP:0000556 |
| HPO |
HP:0000543 |
Optic disc pallor |
"A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [HPO:probinson] |
Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. |
HP:0012795 |
| HPO |
HP:0001141 |
Severely reduced visual acuity |
"Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation)." [PMID:28779882] |
— |
HP:0007663 |
| HPO |
HP:0007843 |
Attenuation of retinal blood vessels |
— |
— |
HP:0008046 |
| OMIM |
OMIM:613617 |
RETINITIS PIGMENTOSA 58; RP58 |
— |
— |
— |