Cataract 21 multiple types- MedGen UID:
- 347538
- •Concept ID:
- C1857768
- •
- Congenital Abnormality
Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.
The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'
Cataract 19 multiple types- MedGen UID:
- 815334
- •Concept ID:
- C3809004
- •
- Disease or Syndrome
CTRCT19 is characterized by autosomal dominant or recessive cataract of various types, including pulverulent, late-onset cortical pulverulent, total, nuclear, membranous, lamellar, sutural, and posterior polar cataract. Other ocular features include nystagmus, amblyopia, and esotropia. Intrafamilial and intraindividual variability has been reported (Pras et al., 2002; Ponnam et al., 2008; Berry et al., 2020; Pei et al., 2020; Wang et al., 2021; Fernandez-Alcalde et al., 2021; Berry et al., 2022).