EXFOLIATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDOEXFOLIATION OF THE LENS
PSEUDOEXFOLIATION GLAUCOMA
EXFOLIATION GLAUCOMA
PSEUDOEXFOLIATION SYNDROME
XFS
PEXS
XFG
PEXG
Number of Symptoms 20
OrphanetNr:
OMIM Id: 177650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012631) Pigment deposition in the trabecular meshwork 1 / 7739
2
(HPO:0012633) Asymmetry of intraocular pressure 1 / 7739
3
(HPO:0009916) Anisocoria 11 / 7739
4
(HPO:0012629) Phacodonesis 1 / 7739
5
(HPO:0100018) Nuclear cataract 14 / 7739
6
(HPO:0001132) Lens subluxation 13 / 7739
7
(HPO:0012636) Retinal vein occlusion 1 / 7739
8
(HPO:0000501) Glaucoma 180 / 7739
9
(OMIM) Melanin dispersion in iris 1 / 7739
10
(OMIM) Pseudouveitis due to breakdown of blood-aqueous barrier 1 / 7739
11
(OMIM) Iris hypoperfusion resulting from degenerated stromal vessels 1 / 7739
12
(OMIM) Atypical cornea guttata 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Poor mydriasis 1 / 7739
15
(OMIM) 'Moth-eaten' pattern of peripupillary atrophy 1 / 7739
16
(OMIM) Iris rigidity 1 / 7739
17
(OMIM) Lens pseudoexfoliation 1 / 7739
18
(OMIM) Abnormal lens suspensory ligament 1 / 7739
19
(OMIM) Open-angle glaucoma due to pupillary and ciliary block 1 / 7739
20
(OMIM) Abnormal fibrillar extracellular material in anterior segment tissues 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age ...
Clinical Description OMIM Forsius (1981) considered the exfoliation syndrome to be a disorder of the suspensory ligament. Secondary glaucoma results from effects of exfoliated lens material ('capsular glaucoma'). The disorder was first described by Lindberg (1917), Forsius's teacher. Forsius himself had ...
Molecular genetics OMIM Thorleifsson et al. (2007) performed a genomewide search which yielded multiple SNPs in the chromosome 15q24.1 region associated with glaucoma. Further investigation revealed that the association was confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 ...
Population genetics OMIM In light of its peculiar population distribution, this disorder seems to have an important genetic basis (Forsius, 1981). In Finland and elsewhere in Scandinavia, it may have a frequency of as high as 20% in persons over age ...