Contents

Search

Bietti's crystalline dystrophy

Epidemiology: 1) rare disease 2) more common in Asians Pathology: 1) crystals in the cornea 2) yellow, shiny deposits on the retina 3) progressive atrophy of the retina, choriocapillaries & choroid 4) progressive night blindness & visual field constriction 5) crystals in lymphocytes seen by electron microscopy. 6) composition of crsytals unkonwn 7) crystals do not appear to harm the patient in any other way except to affect vision Genetics: - autosomal recessive inheritance - associated with defects in CYP4V2 - involved gene(s) localized to chromosome 4 Clinical manifestations: - progressive - patients develop decreased vision, nyctalopia, & paracentral scotomata between the 2nd & 4th decade of life - later, patients develop peripheral visual field loss & marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life Management: there is no treatment

Related

Biett sign

General

eye disease (ophthalmopathy) developmental disorder

Database Correlations

OMIM 210370

References

  1. OMIM :accession 210370
  2. National Eye Institute: Bietti's Crystalline Dystrophy http://www.nei.nih.gov/health/biettis/index.asp