Retinitis pigmentosa-75 (RP75) is caused by homozygous mutation in the AGBL5 gene on chromosome 2p23.
Diseases of the eye and adnexa
Disorders of choroid and retina
Autosomal recessive
2p23.3
Retinitis pigmentosa-75 (RP75) is caused by homozygous mutation in the AGBL5 gene on chromosome 2p23.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615900.1 | United Arab Emirates | Female | Rod-cone dystrophy Rod-cone dystrophy  | NM_021831.6:c.1255dup | Homozygous | Autosomal, Recessive | Khan. 2020 |