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 dominant, Autosomal recessive
15q23
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| 611131.1.1 | Saudi Arabia | Unknown | Yes | Rod-cone dystrophy Rod-cone dystrophy  | NM_014249.4:c.932G>A | Homozygous | Autosomal, Recessive | Patel et al, 2018 | ||
| 611131.2.1 | Palestine | Female | Yes | Yes | Rod-cone dystrophy Rod-cone dystrophy | NM_014249.4:c.932G>A | Homozygous | Autosomal, Recessive | Bandah et al. 2009 | The patient had a ma... |
| 611131.3.1 | Morocco | Female | Yes | Yes | Rod-cone dystrophy Rod-cone dystrophy | NM_014249.4:c.932G>A | Homozygous | Autosomal, Recessive | Bandah et al. 2009 |