Retinal macular dystrophy type 2 is a maculopathy associated with heterozygous mutations in PROM1 gene.
Diseases of the eye and adnexa
Disorders of choroid and retina
Autosomal dominant
4p15.32
Retinal macular dystrophy type 2 is a maculopathy associated with heterozygous mutations in PROM1 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 608051.1 | Saudi Arabia | Male | Cone/cone-rod dystrophy Cone/cone-rod dystrophy  | NM_006017.3:c.1142-1G>A | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |