Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Definition
Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized 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.
Also known as noble-Bass-Sherman syndrome — per MONDO