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
2q31.3
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| 608381.1 | United Arab Emirates | Female | Yes | Yes | Sectoral retinitis pigmentosa Sectoral retinitis pigmentosa  | NM_201548.5:c.238+1G>A | Homozygous | Autosomal, Recessive | Mu et al. 2019 | |
| 608380.G.1 | Saudi Arabia | Unknown | Yes | Yes | Rod-cone dystrophy Rod-cone dystrophy | NM_001030311.2:c.999C>A | Homozygous | Patel et al, 2018 | 2 family members |