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Lattice corneal dystrophy Type I(CDL1)

MedGen UID:
305533
Concept ID:
C1690006
Disease or Syndrome
Synonyms: CDL1; Lattice corneal dystrophy type 1
SNOMED CT: Lattice corneal dystrophy Type I (419197009); Biber-Haab-Dimmer dystrophy (419197009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TGFBI (5q31.1)
 
Monarch Initiative: MONDO:0007380
OMIM®: 122200
Orphanet: ORPHA98964

Definition

Lattice corneal dystrophy type I (CDL1) is an autosomal dominant condition characterized by deposition of amyloid in the corneal stroma. Onset occurs in the first or second decade of life and progresses over time. The anterior stroma has rod-like or linear opacities. Recurrent erosions are common and central anterior stromal haze may develop with age. The lesions usually affect the anterior and central corneas, leaving a relatively normal periphery (summary by Lin et al., 2016). [from OMIM]

Additional description

From MedlinePlus Genetics
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern.

Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood.  https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-i

Clinical features

From HPO
Recurrent corneal erosions
MedGen UID:
56353
Concept ID:
C0155119
Disease or Syndrome
The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
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.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLattice corneal dystrophy Type I

Professional guidelines

PubMed

Morita Y, Chikama T, Yamada N, Morishige N, Sonoda KH, Nishida T
Jpn J Ophthalmol 2012 Jan;56(1):26-30. Epub 2011 Nov 12 doi: 10.1007/s10384-011-0104-5. PMID: 22080335
Long Y, Gu YS, Han W, Li XY, Yu P, Qi M
J Zhejiang Univ Sci B 2011 Apr;12(4):287-92. doi: 10.1631/jzus.B1000154. PMID: 21462384Free PMC Article

Recent clinical studies

Etiology

Atchaneeyasakul LO, Appukuttan B, Pingsuthiwong S, Yenchitsomanus PT, Trinavarat A, Srisawat C; Study Group
Jpn J Ophthalmol 2006 Sep-Oct;50(5):403-408. doi: 10.1007/s10384-006-0357-6. PMID: 17013691
Meisler DM, Fine M
Am J Ophthalmol 1984 Feb;97(2):210-4. doi: 10.1016/s0002-9394(14)76092-1. PMID: 6364818

Diagnosis

Li F, He J, Bai H, Huang Y, Wang F, Tian L
Indian J Ophthalmol 2022 Jan;70(1):85-89. doi: 10.4103/ijo.IJO_33_21. PMID: 34937214Free PMC Article
Long Y, Gu YS, Han W, Li XY, Yu P, Qi M
J Zhejiang Univ Sci B 2011 Apr;12(4):287-92. doi: 10.1631/jzus.B1000154. PMID: 21462384Free PMC Article
Romero P, Vogel M, Diaz JM, Romero MP, Herrera L
Mol Vis 2008 May 7;14:829-35. PMID: 18470323Free PMC Article
Capoluongo E, De Benedetti G, Concolino P, Sepe M, Ambu R, Faa G, Sciandra F, Santonocito C, D'Alberto A, Caselli M, Brancaccio A
Eur J Ophthalmol 2005 Nov-Dec;15(6):804-8. doi: 10.1177/112067210501500624. PMID: 16329070
Yoshida S, Yoshida A, Nakao S, Emori A, Nakamura T, Fujisawa K, Kumano Y, Ishibashi T
Am J Ophthalmol 2004 Mar;137(3):586-8. doi: 10.1016/j.ajo.2003.09.003. PMID: 15013897

Therapy

Kato Y, Yagi H, Kaji Y, Oshika T, Goto Y
J Biol Chem 2013 Aug 30;288(35):25109-25118. Epub 2013 Jul 16 doi: 10.1074/jbc.M113.477695. PMID: 23861389Free PMC Article
Morita Y, Chikama T, Yamada N, Morishige N, Sonoda KH, Nishida T
Jpn J Ophthalmol 2012 Jan;56(1):26-30. Epub 2011 Nov 12 doi: 10.1007/s10384-011-0104-5. PMID: 22080335
Hirano K, Kojima T, Nakamura M, Hotta Y
Cornea 2001 Jul;20(5):530-3. doi: 10.1097/00003226-200107000-00018. PMID: 11413412

Prognosis

Kato Y, Yagi H, Kaji Y, Oshika T, Goto Y
J Biol Chem 2013 Aug 30;288(35):25109-25118. Epub 2013 Jul 16 doi: 10.1074/jbc.M113.477695. PMID: 23861389Free PMC Article
Laborante A, Longo C, De Bonis P, Bisceglia L
Clin Ter 2013;164(1):e41-3. doi: 10.7417/CT.2013.1520. PMID: 23455751
Atchaneeyasakul LO, Appukuttan B, Pingsuthiwong S, Yenchitsomanus PT, Trinavarat A, Srisawat C; Study Group
Jpn J Ophthalmol 2006 Sep-Oct;50(5):403-408. doi: 10.1007/s10384-006-0357-6. PMID: 17013691
Hotta Y, Fujiki K, Ono K, Fujimaki T, Nakayasu K, Yamaguchi T, Kanai A
Jpn J Ophthalmol 1998 Nov-Dec;42(6):450-5. doi: 10.1016/s0021-5155(98)00050-1. PMID: 9886734

Clinical prediction guides

Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH, Moore CB
Invest Ophthalmol Vis Sci 2014 Feb 18;55(2):977-85. doi: 10.1167/iovs.13-13279. PMID: 24425855
Hirano K, Kojima T, Nakamura M, Hotta Y
Cornea 2001 Jul;20(5):530-3. doi: 10.1097/00003226-200107000-00018. PMID: 11413412
Longanesi L, Cavallini GM, Iammarino A, Vaccina F, Guerra R, De Pol A
Ophthalmologica 1998;212(6):415-21. doi: 10.1159/000027379. PMID: 9787234
Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM
Nat Genet 1994 Jan;6(1):47-51. doi: 10.1038/ng0194-47. PMID: 8136834
Hida T, Proia AD, Kigasawa K, Sanfilippo FP, Burchette JL Jr, Akiya S, Klintworth GK
Am J Ophthalmol 1987 Sep 15;104(3):249-54. doi: 10.1016/0002-9394(87)90412-0. PMID: 3498367

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