exfoliation syndrome (exfoliation glaucoma)
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Pathology
- accumulation of abnormal fibrillar deposits in the anterior segment of the eye
- glaucoma
- glaucomatous optic neuropathy
- lens zonule weakness
- cataract formation
- systemic vascular complications due to deposition of exfoliation material in extraocular tissues
Genetics
- genetic variations in LOXL1 are a cause of susceptibility to exfoliation syndrome
- susceptibility to exfoliation syndrome is conferred by a risk haplotype that includes two LOXL1 coding non-synonymous SNPs (Arg141Leu & Gly153Asp) & one intronic SNP
- Arg141Leu & Gly153Asp are sufficient to confer disease susceptibility in some populations