This condition is an autosomal recessive non-syndromic form of retinitis pigmentosa caused by mutations in the PCARE gene.
Diseases of the eye and adnexa
Autosomal recessive
2p23.2
This condition is an autosomal recessive non-syndromic form of retinitis pigmentosa caused by mutations in the PCARE gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613428.1 | Lebanon | Male | No | Optic atrophy; Chorioretinal atrophy; Re... Optic atrophy; Chorioretinal atrophy; Retinopathy  | NM_001029883.3:c.2756_2758del, NM_001029883.3:c.802C>T | Heterozygous | Autosomal, Recessive | Gerth-Kahlert et al. 2017 | Lebanese/Armenian or... | |
| 613428.2 | United Arab Emirates | Female | Rod-cone dystrophy Rod-cone dystrophy | NM_001029883.3:c.2967del | Homozygous | Autosomal, Recessive | Khan. 2020 | |||
| 613428.G.1 | Egypt | Unknown | Yes | Yes | Retinal dystrophy Retinal dystrophy | NM_001029883.3:c.3002G>A | Homozygous | Autosomal, Recessive | Patel et al, 2018 | 3 family members |
| 613428.G.2 | Iraq | Unknown | Yes | Yes | Retinal dystrophy Retinal dystrophy | NM_001029883.3:c.1377delT | Homozygous | Autosomal, Recessive | Patel et al, 2018 | 2 family members |