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Doyne honeycomb retinaldystrophy (DHRD); malattia leventinese (MLVT)

Genetics: 1) autosomal dominant disease 2) associated with defects in EFEMP1 gene Clinical manifestations: - yellow-white deposits known as drusen that accumulate beneath retinal pigment epithelium

General

genetic disease of the eye

Database Correlations

OMIM 126600

References

  1. UniProt :accession Q12805
  2. OMIM :accession 126600