Diseases of the eye and adnexa
Autosomal recessive
1q23.3
Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616517.G.1 | Saudi Arabia | Unknown | Yes | No | Retinal dystrophy Retinal dystrophy  | NM_007348.4:c.949C>T | Homozygous | Autosomal, Recessive | Patel et al, 2018 | 2 family members |