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Ectopia lentis-chorioretinal dystrophy-myopia syndrome
rareEctopia 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.
- Identifiers
- MONDO:0015997 Orphanet:1884
- Also known as
- ectopia lentis chorioretinal dystrophy myopia · noble Bass Sherman syndrome · noble-Bass-Sherman syndrome
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