Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1) is characterized by poor visual acuity in early childhood. Congenital cataract and microcornea are followed by rod-cone dystrophy, with later development of posterior staphyloma (Cai et al., 2019).
Genetic Heterogeneity of Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma
MRCS2 (see 193220) is caused by mutation in the BEST1 gene (607854) on chromosome 11q12; 1 such family has been reported. [from OMIM]
- MedGen UID:
- 1755099
- •Concept ID:
- C5436769
- •
- Disease or Syndrome