Cataract-microcornea syndrome

The cataract-microcornea syndrome is the association of congenital cataract and microcornea.

Cataract-microcornea syndrome
Other namesMicrocornea cataract syndrome[1]
Cataract-microcornea syndrome is inherited in an autosomal dominant manner[2]

Genetics

Mutations in ABCA3 were found to be associated to this syndrome.[3]

Diagnosis

Treatment

References
  1. "Cataract microcornea syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 October 2019.
  2. "OMIM Entry - # 116200 - CATARACT 1, MULTIPLE TYPES; CTRCT1". omim.org. Retrieved 1 September 2017.
  3. Chen, P; Dai, Y; Wu, X; Wang, Y; Sun, S; Xiao, J; Zhang, Q; Guan, L; Zhao, X; Hao, X; Wu, R; Xie, L (2014). "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome". Investigative Ophthalmology & Visual Science. 55 (12): 8031–43. doi:10.1167/iovs.14-14098. PMID 25406294.
Classification
External resources


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