Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical. [From OMIM]
Diseases of the eye and adnexa
Autosomal dominant
1p36.13
Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 116600.1.1 | Saudi Arabia | Male | Yes | Yes | Developmental cataract; Remnants of the ... Developmental cataract; Remnants of the hyaloid vascular system  | NM_004431.5:c.1405T>C | Homozygous | Autosomal, Recessive | Khan et al. 2015; Aldahmesh et al. 2012 | Patient had three ol... |
| 116600.1.2 | Saudi Arabia | Male | Yes | Yes | Developmental cataract; Remnants of the ... Developmental cataract; Remnants of the hyaloid vascular system | NM_004431.5:c.1405T>C | Homozygous | Autosomal, Recessive | Khan et al. 2015; Aldahmesh et al. 2012 | Brother of 116600.1.... |
| 116600.2 | Saudi Arabia | Unknown | Juvenile posterior subcapsular lenticula... Juvenile posterior subcapsular lenticular opacities | NM_004431.3:c.1315C>T | Homozygous | Autosomal, Recessive | Patel et al. 2017 | |||
| 116600.3.1 | Saudi Arabia | Unknown | Yes | Cataract; Infantile onset Cataract; Infantile onset | NM_004431.5:c.2007G>T | Heterozygous | Autosomal, Dominant | |||
| 116600.3.2 | Saudi Arabia | Unknown | Yes | Cataract; Infantile onset Cataract; Infantile onset | NM_004431.5:c.2007G>T | Heterozygous | Autosomal, Dominant | Relative of 116600.3... |