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lamellar cataract; zonular cataract (includes Marner type cataract)
Epidemiology:
- common type of infantile cataract
Pathology:
- concentric opacities, broad or narrow, usually consisting of powdery white dots affecting one lamella or zonule of an otherwise clear lens
- the opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly affected (type 2)
- generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus (type 2)
- usually sharply separated from a clear cortex; however, they may have projections from their outer edges known as riders or spokes (type 2)
Genetics:
- autosomal dominant
- associated with defects in HSF4
- associated with defects in CRYBA1
- associate with defects in CRYBA4 (type 2) [3]
Clinical manifestations:
- infantile cataract
- finger malformation is observed in some kindreds
General
autosomal dominant cataracts
Database Correlations
OMIM correlations
References
- OMIM :accession 116800
- OMIM :accession 600881
- OMIM :accession 610425