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ectopia lentis-chorioretinal dystrophy-myopia syndrome

Disease Summary
Associated Targets ()

Mondo Description Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0015997:  ectopia lentis-chorioretinal dystrophy-myopia syndrome
GARD:0003999: 
MESH:C536124: 
Orphanet:1884: 
SCTID:722437006: