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Corneal dystrophy, lattice type 3A(CDL3A)

MedGen UID:
332989
Concept ID:
C1837974
Disease or Syndrome
Synonyms: CDL3A; Lattice corneal dystrophy type III A; Lattice Corneal Dystrophy Type IIIa
 
Gene (location): TGFBI (5q31.1)
 
Monarch Initiative: MONDO:0012044
OMIM®: 608471

Definition

Lattice corneal dystrophy type IIIA (CDL3A) is an autosomal dominant condition characterized by amyloid accumulation in the corneal stroma. It is clinically manifest as the presence of thick ropy lattice lines in the cornea. Recurrent erosions are common. Onset occurs between 70 and 90 years of age (Yamamoto et al., 1998). [from OMIM]

Clinical features

From HPO
Lattice corneal dystrophy
MedGen UID:
56355
Concept ID:
C0155127
Disease or Syndrome
The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Corneal erosion
MedGen UID:
97882
Concept ID:
C0392163
Disease or Syndrome
An erosion or abrasion of the cornea's outermost layer of epithelial cells.
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.

Recent clinical studies

Etiology

Liu B, Hu Y, Rai SK, Wang M, Hu FB, Sun Q
JAMA Netw Open 2023 Dec 1;6(12):e2349552. doi: 10.1001/jamanetworkopen.2023.49552. PMID: 38150249Free PMC Article
Yagi-Yaguchi Y, Yamaguchi T, Okuyama Y, Satake Y, Tsubota K, Shimazaki J
PLoS One 2016;11(8):e0161075. Epub 2016 Aug 18 doi: 10.1371/journal.pone.0161075. PMID: 27536778Free PMC Article

Diagnosis

Yagi-Yaguchi Y, Yamaguchi T, Okuyama Y, Satake Y, Tsubota K, Shimazaki J
PLoS One 2016;11(8):e0161075. Epub 2016 Aug 18 doi: 10.1371/journal.pone.0161075. PMID: 27536778Free PMC Article
Mashima Y, Yamamoto S, Inoue Y, Yamada M, Konishi M, Watanabe H, Maeda N, Shimomura Y, Kinoshita S
Am J Ophthalmol 2000 Oct;130(4):516-7. doi: 10.1016/s0002-9394(00)00571-7. PMID: 11024425

Prognosis

Liu B, Hu Y, Rai SK, Wang M, Hu FB, Sun Q
JAMA Netw Open 2023 Dec 1;6(12):e2349552. doi: 10.1001/jamanetworkopen.2023.49552. PMID: 38150249Free PMC Article
Mashima Y, Yamamoto S, Inoue Y, Yamada M, Konishi M, Watanabe H, Maeda N, Shimomura Y, Kinoshita S
Am J Ophthalmol 2000 Oct;130(4):516-7. doi: 10.1016/s0002-9394(00)00571-7. PMID: 11024425

Clinical prediction guides

Liu B, Hu Y, Rai SK, Wang M, Hu FB, Sun Q
JAMA Netw Open 2023 Dec 1;6(12):e2349552. doi: 10.1001/jamanetworkopen.2023.49552. PMID: 38150249Free PMC Article

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