Acta Scientific Ophthalmology (ASOP)

Case Report Volume 3 Issue 1

Avellino Corneal Dystrophy - Case Reports in A Family and Literature Review

Livia Marinho de Farias*, Adriano Oliveira Amorim de Sousa, Olinto Farias Castelo Branco Junior, George Luiz Damasceno Souza and Jose Bonifácio Barbosa JUNIOR

Department Of Ophthalmology, Brazil

*Corresponding Author: Livia Marinho de Farias, Department Of Ophthalmology, Brazil.

Received: December 17, 2019; Published: December 31, 2019

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  Avellino is a corneal dystrophy with granular deposits in the subepithelial and anterior stromal corneal layers, combined with discernible lattice lines in the stroma. Vision decreases with age as the central visual axis becomes affected, and pain may accompany mild corneal erosions. The disease is more severe in homozygous patients than in their heterozygous counterparts, and mutations in TGFBI are responsible for the occurrence. Treatments vary by the depth of the opacities in the cornea and the availability of a graft, and phototherapeutic keratectomy (PTK) or keratoplasty has been used. We examined a family of 10 siblings; 8 were examined, and of these, 7 (3 males and 4 females) had the typical corneal opacities of Avellino dystrophy. Penetrating keratoplasty was performed on 4 eyes and the histopathological analysis of these grafts revealed them to be compatible with Avellino's dystrophy, with focal areas of irregular hyalinization in the anterior and posterior regions of the stroma, which a had tracery appearance and epithelial thickening.

Keywords:Avellino Corneal Dystrophy

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References

  1. Nishida K., et al. “Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy”. American Journal of Human Genetics 61 (1997): 1268-1275.
  2. Boutboul S., et al. “A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3”. Human Mutation 27 (2006): 553-557. 
  3. Chen YT., et al. “Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy”. Cornea 24 (2005): 928-932. 
  4. Franceschetti A and Babel J II. “The heredofamilial degenerations of the cornea. B. Pathological anatomy”. Acta XVI Conc Ophthalmology (1951): 245-283. 
  5. Corden LD., et al. “A novel keratin 12 mutation in a German kindred with Meesmann’s corneal dystrophy”. British Journal of Ophthalmology 84 (2000): 527-530. 
  6. Aldave AJ. “The clinical utility of genetic analysis in the diagnosis and management of inherited corneal disorders”. Contemporary Ophthalmology 4 (2005): 1-10.
  7. Irvine AD., et al. “A novel mutation in KRT12 associated with Meesmann’s epithelial corneal dystrophy”. British Journal of Ophthalmology 86 (2002): 729-732. 
  8. Jones ST and Zimmerman LE. “Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea”. American Journal of Ophthalmology 51 (1961): 394-410.
  9. M Park., et al. Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy. 
  10. A P Ferry., et al. “Combined granular-lattice ('Avellino') corneal dystrophy”. Transactions of the American Ophthalmological Society 95 (1997): 61-77. 
  11. Holland EJ., et al. “Avellino corneal dystrophy: clinical manifestations and natural history”. Ophthalmology 99.10 (1992):1564-1568.
  12. Rosenwasser GO., et al. “Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy”. Archives of Ophthalmology 111.11 (1993): 1546-1552.
  13. Weiss JS., et al. “The IC3D classification of the corneal dystrophies”. Cornea 27.2 (2008): S1-83.
  14. Garner A. “Histochemistry of corneal granular dystrophy”. British Journal of Ophthalmology 53.12 (1969): 799-807. 
  15. Akiya S and Brown SI. “Granular dystrophy of the cornea: characteristic electron microscopic lesion”. Archives of Ophthalmology 84.2 (1970): 179-192. 
  16. Owens SL., et al. “Superficial granular corneal dystrophy with amyloid deposit”. Archives of Ophthalmology 110.2 (1992): 175-176.
  17. Shin Hae Park., et al. Heterozygous Avellino Corneal Dystrophy 9 Years After Photorefractive Keratectomy: Natural or Laser-Induced Accelerated Course? ().
  18. Okada M., et al. “Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations”. Investigative Ophthalmology and Visual Science 39 (1998):1947-1953.
  19. Watanabe H., et al. “Two patterns of opacity in corneal dystrophy caused by the homozygous BIG-H3 R124H mutation”. American Journal of Ophthalmology 132 (2001): 211-216.
  20. Munier FL., et al. “Kerato-epithelin mutations in four 5q31 linked corneal dystrophies”. Nature Genetics 15.3 (1997):247-251. 
  21. Folberg R., et al. “Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits: a study of three families”. Ophthalmology 95.1 (1988): 46-51.
  22. Aldave AJ., et al. “Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene”. Molecular Vision 12 (2006): 142-146. 
  23. Aldave AJ., et al. “A unique corneal dystrophy of Bowman’s layer and stroma associated with the Gly623Asp mutation in the transforming growth factor -induced (TGFBI) gene”. Ophthalmology 112.6 (2005):1017-1022. 
  24. Aldave AJ., et al. “Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene”. American Journal of Ophthalmology 138.5 (2004): 772-781. 
  25. Kannabiran C and Klintworth GK. “TGFBI gene mutations in corneal dystrophies”. Human Mutation 27.7 (2006): 615-625.
  26. Stark WJ., et al. “Clinical follow-up of 193-nm ArF excimer laser photokeratectomy”. Ophthalmology 99 (1992): 805-812.
  27. Mannis MJ., et al. “The Stromal Dystrophies: Cornea”. St. Louis, CV Mosby (1997).
  28. Moon JW., et al. “Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): Natural history and progression after treatment”. Cornea 26 (2007): 1095-1100.
  29. Choi SI., et al. “Decreased catalase expression and increased susceptibility to oxidative stress in primary cultured corneal fibroblasts from patients with granular corneal dystrophy type II”. The American Journal of Pathology 175 (2009): 248-261.
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Citation

Citation: Livia Marinho de Farias., et al. “Avellino Corneal Dystrophy - Case Reports in A Family and Literature Review”.Acta Scientific Ophthalmology 3.1 (2020): 12-13.



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