Diseases of the eye and adnexa
Disorders of choroid and retina
Autosomal recessive
10q23.1
Cone rod dystrophies are a group of genetically heterogenous rare retinal disorders characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613660.1 | Lebanon | Female | Visual impairment; Rod-cone dystrophy; ... Visual impairment; Rod-cone dystrophy; Cone/cone-rod dystrophy  | NM_033100.4:c.420T>A | Homozygous | Autosomal, Recessive | Nair et al. 2018 | |||
| 613660.2 | Palestine | Unknown | No | Yes | Visual impairment; Rod-cone dystrophy Visual impairment; Rod-cone dystrophy | NM_033100.4:c.338del | Homozygous | Autosomal, Recessive | Patel et al, 2018 |