Schnyder corneal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
CORNEAL DYSTROPHY, SCHNYDER
SCD
SCCD
Schnyder crystalline dystrophy sine crystals
Crystalline stromal dystrophy
schnyder crystalline corneal dystrophy
Hereditary crystalline stromal dystrophy of Schnyder
Number of Symptoms 12
OrphanetNr: 98967
OMIM Id: 121800
ICD-10: H18.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Stromal corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Comment:

gene: UBIAD1 Only 50% of affected patients have corneal crystals. The severity of dyslipidemia does not directly correlate with the amount of corneal lipid deposition (PMID:21540632).

Symptom Information: Sort by abundance 

1
(HPO:0012155) Decreased corneal sensation 21540632 IBIS 5 / 7739
2
(HPO:0011487) Increased corneal thickness 22411127 IBIS 3 / 7739
3
(HPO:0007727) Opacification of the corneal epithelium 21540632 IBIS 2 / 7739
4
(HPO:0007760) Crystalline corneal dystrophy Frequent [IBIS] 21540632 IBIS 1 / 7739
5
(HPO:0007759) Opacification of the corneal stroma 23328470 IBIS 77 / 7739
6
(HPO:0000505) Visual impairment 21540632 IBIS 297 / 7739
7
(HPO:0000529) Progressive visual loss 21540632 IBIS 54 / 7739
8
(HPO:0007957) Corneal opacity 21540632 IBIS 84 / 7739
9
(HPO:0002857) Genu valgum 21540632 IBIS 144 / 7739
10
(HPO:0003124) Hypercholesterolemia Frequent [IBIS] 21540632 IBIS 53 / 7739
11
(MedDRA:10058646) Arcus lipoides 21540632 IBIS 1 / 7739
12
(OMIM) Cloudy central cornea 9379642 IBIS 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in ...
Clinical Description OMIM Schnyder corneal dystrophy, which begins early in life, presents as an oval or annular clouding of the central part of the cornea with the periphery remaining clear. Involvement extends toward the limbus but usually leaves a clear peripheral ...
Molecular genetics OMIM Orr et al. (2007) analyzed 9 candidate genes in 5 families with SCCD, including 2 families previously reported by McCarthy et al. (1994) and Battisti et al. (1998), respectively, and identified 5 different heterozygous missense mutations in the ...