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Syndrome reference sheet
Generated 13 Oct 2026
Ophthalmology · Ophthalmology / Glaucoma

Pseudoexfoliation syndrome

Also known as: Exfoliation syndrome

Deposition of fibrillar material in the eye and other tissues.

Medical specialty
Ophthalmology
Subspecialty
Ophthalmology / Glaucoma
Sex & age distribution
Male: affected; Female: affected; Children: no, onset after age 60
Gene(s) involved
CACNA1A, LOXL1

Etiology & mechanism

Abnormal extracellular matrix deposition with elevated LOXL1 pathways.

Gene(s) involved (2)

CACNA1ALOXL1

Symptoms & signs (5)

cataractexfoliative material on lensglaucomaphacodonesispoor pupillary dilation
SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.