Contents

Search

retinitis pigmentosa type 14 (RP14)

Pathology: - degeneration of retinal photoreceptor cells Genetics: 1) autosomal recessive 2) associated with defects in TULP1 gene Clinical manifestations: - night vision blindness - loss of midperipheral visual field - loss of far peripheral visual field with progression & eventually loss of central vision

Database Correlations

OMIM 600132

References

  1. UniProt :accession O00294
  2. OMIM :accession 600132