Gelatinous drop-like corneal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: AMYLOID CORNEAL DYSTROPHY, JAPANESE TYPE
AMYLOIDOSIS, CORNEAL
CORNEAL DYSTROPHY, LATTICE TYPE III
LATTICE CORNEAL DYSTROPHY, TYPE III
GDLD
GDCD
CDGDL
Subepithelial amyloidosis of the cornea
Primary familial amyloidosis of the cornea
Number of Symptoms 10
OrphanetNr: 98957
OMIM Id: 204870
ICD-10: H18.5
UMLs: C0339273
MeSH: C535480
MedDRA:
Snomed: 418946006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000613) Photophobia 158 / 7739
2
 (HPO:0000505) Visual impairment 297 / 7739
3
 (HPO:0000622) Blurred vision 14 / 7739
4
 (HPO:0001131) Corneal dystrophy 56 / 7739
5
 (HPO:0007663) Reduced visual acuity 100 / 7739
6
 (HPO:0009926) Increased lacrimation 8 / 7739
7
 (HPO:0011463) Childhood onset 65 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Raised, yellowish-gray gelatinous masses (subepithelium and anterior stroma) 1 / 7739
10
 (OMIM) Foreign body sensations 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, ...
Clinical Description OMIM Corneal amyloidosis is characterized by central raised gelatinous masses, making the surface of the cornea resemble a mulberry. Lewkojewa (1930) reported 2 affected brothers. In the kindred of Kirk et al. (1973), 3 sibs were affected while 4 ...
Molecular genetics OMIM Tsujikawa et al. (1999) identified 4 mutations in the M1S1 gene (137290.0001-137290.0004) in homozygous or compound heterozygous state in 26 affected members of 20 Japanese GDLD families. The most common mutation was Q118X (137290.0001), which was found in ...
Population genetics OMIM From the frequency of parental consanguinity, Fujiki et al. (1986) estimated the prevalence of GDLD to be about 1 in 31,546 in Japan, which means that about 3,500 persons aged 5 to 79 are affected.