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Gelatinous droplike corneal dystrophy(GDLD)

MedGen UID:
90939
Concept ID:
C0339273
Disease or Syndrome
Synonyms: Amyloid corneal dystrophy, Japanese type; Corneal Dystrophy, Gelatinous Drop-Like; Corneal dystrophy, Lattice type 3; GDLD
SNOMED CT: Gelatinous droplike corneal dystrophy (419900000); Lattice corneal dystrophy type III (419900000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): TACSTD2 (1p32.1)
 
Monarch Initiative: MONDO:0008777
OMIM®: 204870
Orphanet: ORPHA98957

Definition

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, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients (summary by Tsujikawa et al., 1999). [from OMIM]

Clinical features

From HPO
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Blurred vision
MedGen UID:
91020
Concept ID:
C0344232
Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
Corneal foreign body sensation
MedGen UID:
1768148
Concept ID:
C0920171
Finding
A perception that an object is in contact with the eye.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGelatinous droplike corneal dystrophy
Follow this link to review classifications for Gelatinous droplike corneal dystrophy in Orphanet.

Recent clinical studies

Diagnosis

Yildirim N, Muslumanoglu H, Isiksoy S, Sahin A, Baycu C, Artan S
Cornea 2007 Sep;26(8):1017-20. doi: 10.1097/ICO.0b013e31811df9f1. PMID: 17721311
Tian X, Fujiki K, Li Q, Murakami A, Xie P, Kanai A, Wang W, Liu Z
Am J Ophthalmol 2004 Mar;137(3):567-9. doi: 10.1016/j.ajo.2003.08.008. PMID: 15013888

Clinical prediction guides

Yildirim N, Muslumanoglu H, Isiksoy S, Sahin A, Baycu C, Artan S
Cornea 2007 Sep;26(8):1017-20. doi: 10.1097/ICO.0b013e31811df9f1. PMID: 17721311

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