Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people. [From OMIM]
Diseases of the eye and adnexa
Disorders of choroid and retina
Autosomal recessive
1p22.1
Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601718.1 | Saudi Arabia | Unknown | No | Rod-cone dystrophy Rod-cone dystrophy  | NM_000350.3:c.5391_5392del | Homozygous | Autosomal, Recessive | Patel et al. 2016 | ||
| 601718.G.1 | Syria | Unknown | Yes | Yes | Visual impairment; Rod-cone dystrophy Visual impairment; Rod-cone dystrophy | NM_000350.3:c.3482G>A | Heterozygous | Autosomal, Recessive | Patel et al, 2018 | 4 members of a famil... |
| 601718.G.2 | Saudi Arabia | Unknown | Yes | Rod-cone dystrophy Rod-cone dystrophy | NM_000350.3:c.1630_1633dup | Homozygous | Autosomal, Recessive | Patel et al. 2016 | Family with unknown ... |