Diseases of the eye and adnexa
Disorders of choroid and retina
Autosomal recessive
8p23.1
Retinitis pigmentosa-88 (RP88) is characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity. Examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618826.G.1 | Saudi Arabia | Unknown | No | Rod-cone dystrophy Rod-cone dystrophy  | NM_178857.6:c.5959C>T | Homozygous | Autosomal, Recessive | Patel et al. 2016 | Family with unknown ... |