Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus. [From OMIM]
Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613856.1 | United Arab Emirates | Female | Cone/cone-rod dystrophy Cone/cone-rod dystrophy  | NM_005272.5:c.481C>T | Homozygous | Autosomal, Recessive | Khan. 2020 |