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Avellino corneal dystrophy(CDA)

MedGen UID:
220900
•Concept ID:
C1275685
•
Disease or Syndrome
Synonyms: CDA; Combined granular-lattice corneal dystrophies; COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY; Granular and lattice corneal dystrophies; Granular corneal dystrophy type 2; GRANULAR CORNEAL DYSTROPHY, TYPE II; Granular-lattice (Avellino) corneal dystrophy
SNOMED CT: Avellino corneal dystrophy (397568004); Granular-lattice corneal dystrophy (397568004); Granular corneal dystrophy type II (397568004)
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.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): TGFBI (5q31.1)
 
Monarch Initiative: MONDO:0011855
OMIM®: 607541
Orphanet: ORPHA98963

Definition

Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. [from ORDO]

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.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Term Hierarchy

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

Professional guidelines

PubMed

Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.
Chang MS, Jun I, Kim EK
Korean J Ophthalmol 2023 Aug;37(4):340-347. Epub 2023 Jun 19 doi: 10.3341/kjo.2023.0032. PMID: 37336511Free PMC Article
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy.
Lisch W, Moller HU
Cornea 2011 Aug;30(8):949; author reply 949-50. doi: 10.1097/ICO.0b013e3182031e5c. PMID: 21617530
Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.
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

TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?
Nagano C, Nozu K, Yamamura T, Minamikawa S, Fujimura J, Sakakibara N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W, Yoshikawa N, Iijima K
CEN Case Rep 2019 Feb;8(1):14-17. Epub 2018 Aug 7 doi: 10.1007/s13730-018-0356-8. PMID: 30088155Free PMC Article
Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy.
Bae JS, Cheong HS, Chun JY, Park TJ, Kim JO, Kim EM, Park M, Kim DJ, Lee EJ, Kim EK, Lee JY, Shin HD
Ophthalmology 2010 Jul;117(7):1306-12.e4. Epub 2010 Mar 3 doi: 10.1016/j.ophtha.2009.11.021. PMID: 20202685
Avellino corneal dystrophy after LASIK.
Jun RM, Tchah H, Kim TI, Stulting RD, Jung SE, Seo KY, Lee DH, Kim EK
Ophthalmology 2004 Mar;111(3):463-8. doi: 10.1016/j.ophtha.2003.06.026. PMID: 15019320
Alteration of the ocular surface with recurrence of granular/avellino corneal dystrophy after phototherapeutic keratectomy: report of five cases and literature review.
Dogru M, Katakami C, Nishida T, Yamanaka A
Ophthalmology 2001 Apr;108(4):810-7. doi: 10.1016/s0161-6420(00)00657-6. PMID: 11297503
Granular-lattice (Avellino) corneal dystrophy.
Akiya S, Takahashi H, Nakano N, Hirose N, Tokuda Y
Ophthalmologica 1999;213(1):58-62. doi: 10.1159/000027395. PMID: 9838259

Diagnosis

Corneal Electrolysis for Granular Corneal Dystrophy Type 2 (Avellino Corneal Dystrophy) Exacerbation After LASIK.
Hieda O, Kobayashi A, Sotozono C, Kinoshita S
J Refract Surg 2023 Jan;39(1):61-65. Epub 2023 Jan 1 doi: 10.3928/1081597X-20221129-01. PMID: 36630431
Recurrence of Avellino Corneal Dystrophy Following Penetrating Keratoplasty: A Case Report.
Rana RS, Bajracharya L, Gurung R
JNMA J Nepal Med Assoc 2021 Apr 30;59(236):406-408. doi: 10.31729/jnma.5726. PMID: 34508535Free PMC Article
TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?
Nagano C, Nozu K, Yamamura T, Minamikawa S, Fujimura J, Sakakibara N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W, Yoshikawa N, Iijima K
CEN Case Rep 2019 Feb;8(1):14-17. Epub 2018 Aug 7 doi: 10.1007/s13730-018-0356-8. PMID: 30088155Free PMC Article
Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy.
Huerva V, Velasco A, Sanchez MC, Matias-Guiu X
Eur J Ophthalmol 2008 May-Jun;18(3):345-50. doi: 10.1177/112067210801800305. PMID: 18465714
Avellino corneal dystrophy worsening after laser in situ keratomileusis: further clinicopathologic observations and proposed pathogenesis.
Awwad ST, Di Pascuale MA, Hogan RN, Forstot SL, McCulley JP, Cavanagh HD
Am J Ophthalmol 2008 Apr;145(4):656-61. Epub 2008 Feb 19 doi: 10.1016/j.ajo.2007.12.008. PMID: 18243154Free PMC Article

Therapy

Update on contraindications for laser-assisted in situ keratomileusis and photorefractive keratectomy.
Bower KS, Woreta F
Curr Opin Ophthalmol 2014 Jul;25(4):251-7. doi: 10.1097/ICU.0000000000000055. PMID: 24837576
Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature.
Han KE, Kim TI, Chung WS, Choi SI, Kim BY, Kim EK
Eye Contact Lens 2010 Sep;36(5):296-9. doi: 10.1097/ICL.0b013e3181ef0da0. PMID: 20724852
Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK.
Lee JH, Stulting RD, Lee DH, Lee CS, Kim WC, Kim EK
J Refract Surg 2008 Jan;24(1):39-45. doi: 10.3928/1081597X-20080101-06. PMID: 18269147
Avellino corneal dystrophy worsening after laser in situ keratomileusis: further clinicopathologic observations and proposed pathogenesis.
Awwad ST, Di Pascuale MA, Hogan RN, Forstot SL, McCulley JP, Cavanagh HD
Am J Ophthalmol 2008 Apr;145(4):656-61. Epub 2008 Feb 19 doi: 10.1016/j.ajo.2007.12.008. PMID: 18243154Free PMC Article
Avellino corneal dystrophy after LASIK.
Jun RM, Tchah H, Kim TI, Stulting RD, Jung SE, Seo KY, Lee DH, Kim EK
Ophthalmology 2004 Mar;111(3):463-8. doi: 10.1016/j.ophtha.2003.06.026. PMID: 15019320

Prognosis

Automatic segmentation of corneal dystrophy on photographic images based on texture analysis.
You JI, Park JR, Bang SK, Kim K, Oh WY, Yu SY, Jin KH
Int Ophthalmol 2021 Aug;41(8):2695-2703. Epub 2021 Apr 15 doi: 10.1007/s10792-021-01825-x. PMID: 33856597
Pharmacological therapies for cataract and refractive errors: landscaping niches of ocular drug patenting.
Mucke HA, Mucke P, Mucke E
Pharm Pat Anal 2012 May;1(2):165-75. doi: 10.4155/ppa.12.23. PMID: 24236781
Avellino corneal dystrophy after LASIK.
Jun RM, Tchah H, Kim TI, Stulting RD, Jung SE, Seo KY, Lee DH, Kim EK
Ophthalmology 2004 Mar;111(3):463-8. doi: 10.1016/j.ophtha.2003.06.026. PMID: 15019320
Granular-lattice (Avellino) corneal dystrophy.
Akiya S, Takahashi H, Nakano N, Hirose N, Tokuda Y
Ophthalmologica 1999;213(1):58-62. doi: 10.1159/000027395. PMID: 9838259
Granular-lattice (Avellino) corneal dystrophy in Japanese patients.
Konishi M, Mashima Y, Nakamura Y, Yamada M, Sugiura H
Cornea 1997 Nov;16(6):635-8. PMID: 9395872

Clinical prediction guides

Automatic segmentation of corneal dystrophy on photographic images based on texture analysis.
You JI, Park JR, Bang SK, Kim K, Oh WY, Yu SY, Jin KH
Int Ophthalmol 2021 Aug;41(8):2695-2703. Epub 2021 Apr 15 doi: 10.1007/s10792-021-01825-x. PMID: 33856597
An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.
Gu Z, Zhao P, He G, Wan C, Ma G, Yu L, Zhang J, Feng G, He L, Gao L
Mol Vis 2011;17:3200-7. Epub 2011 Dec 13 PMID: 22194646Free PMC Article
Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy.
Huerva V, Velasco A, Sanchez MC, Matias-Guiu X
Eur J Ophthalmol 2008 May-Jun;18(3):345-50. doi: 10.1177/112067210801800305. PMID: 18465714
Avellino corneal dystrophy worsening after laser in situ keratomileusis: further clinicopathologic observations and proposed pathogenesis.
Awwad ST, Di Pascuale MA, Hogan RN, Forstot SL, McCulley JP, Cavanagh HD
Am J Ophthalmol 2008 Apr;145(4):656-61. Epub 2008 Feb 19 doi: 10.1016/j.ajo.2007.12.008. PMID: 18243154Free PMC Article
Alteration of the ocular surface with recurrence of granular/avellino corneal dystrophy after phototherapeutic keratectomy: report of five cases and literature review.
Dogru M, Katakami C, Nishida T, Yamanaka A
Ophthalmology 2001 Apr;108(4):810-7. doi: 10.1016/s0161-6420(00)00657-6. PMID: 11297503

Supplemental Content

Table of contents

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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