Bietti's Crystalline Dystrophy
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Contents |
Epidemiology
- rare disease
- more common in Asians
Pathology
- crystals in the cornea
- yellow, shiny deposits on the retina
- progressive atrophy of the retina, choriocapillaries & choroid
- progressive night blindness & visual field constriction
- crystals in lymphocytes seen by electron microscopy.
- composition of crsytals unkonwn
- 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
More General Terms
Internet Database
OMIM: 210370
References
- OMIM [1]
- Bietti's Crystalline Dystrophy: NIH Institute and Center Resources [2]
- National Eye Institute: Bietti's Crystalline Dystrophy [3]
