Diseases of the eye and adnexa
Disorders of choroid and retina
Autosomal recessive
4q32.1
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613341.1 | Saudi Arabia | Unknown | Yes | Yes | Visual Impairment; Rod-cone dystrophy Visual Impairment; Rod-cone dystrophy  | NM_004744.5:c.241_242del | Homozygous | Autosomal, Recessive | Patel et al, 2018 | |
| 613341.G.1 | Saudi Arabia | Unknown | Yes | Yes | Visual Impairment; Rod-cone dystrophy Visual Impairment; Rod-cone dystrophy | NM_004744.5:c.233_242del | Homozygous | Autosomal, Recessive | Patel et al, 2018 | 2 family members |