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Macular Corneal Dystrophy Clinical Presentation

  • Author: Natalie A Afshari, MD, MA, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Sep 22, 2014
 

History

In many patients, macular corneal dystrophy is first visible in the cornea during the first decade of life. Visual acuity decreases over time, and patients develop photosensitivity. They may also experience eye pain from recurrent corneal erosions.

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Physical

Macular dystrophy is characterized by multiple irregular gray-white opacities that are present in the corneal stroma and extend into the peripheral cornea. (In granular corneal dystrophy, the deposits are located centrally.) These stromal opacities are distributed throughout the cornea without clear spaces, whereas granular corneal dystrophy deposits usually have clear zones between them.

Macular corneal dystrophy involves the entire thickness of the cornea and is more superficial centrally and deeper peripherally. The central cornea in this condition may be thinned. Significant cornea guttata may be present in severe disease.

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Causes

Macular corneal dystrophy is autosomal recessive. The gene responsible for macular dystrophy is CHST6, located on chromosome 16.

The metabolic defect for this condition appears to be an error in the synthesis of keratan sulfate. Three variants of macular corneal dystrophy exist based on the immunoreactivity of the macular deposits. Macular corneal dystrophy type I has no keratan sulfate reactivity in the cornea or serum. Macular corneal dystrophy type IA has keratan sulfate reactivity in keratocytes but not in serum. Macular corneal dystrophy type II has keratan sulfate reactivity in the cornea, and the serum has normal or low levels of keratan sulfate.[1]

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Contributor Information and Disclosures
Author

Natalie A Afshari, MD, MA, FACS Stuart I Brown, MD, Chair in Ophthalmology In Memory of Donald P Shiley, Professor of Ophthalmology, Chief of Cornea and Refractive Surgery, Director of Education, Fellowship Program Director in Cornea and Refractive Surgery, Shiley Eye Center, University of California, San Diego, School of Medicine

Natalie A Afshari, MD, MA, FACS is a member of the following medical societies: American Academy of Ophthalmology, American Society of Cataract and Refractive Surgery, Association for Research in Vision and Ophthalmology, Heed Ophthalmic Foundation

Disclosure: Nothing to disclose.

Coauthor(s)

William Lloyd Clark, MD Palmetto Retina

William Lloyd Clark, MD is a member of the following medical societies: Alpha Omega Alpha, Association for Research in Vision and Ophthalmology, American Academy of Ophthalmology

Disclosure: Nothing to disclose.

William B Trattler, MD Ophthalmologist, The Center for Excellence in Eye Care; Volunteer Assistant Professor of Ophthalmology, Bascom Palmer Eye Institute

William B Trattler, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Cataract and Refractive Surgery

Disclosure: Received consulting fee from Allergan for consulting; Received consulting fee from Alcon for consulting; Received consulting fee from Bausch & Lomb for consulting; Received consulting fee from Abbott Medical Optics for consulting; Received consulting fee from CXLUSA for none; Received consulting fee from LensAR for none.

Joanne W Ho University of California, San Diego, School of Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Christopher J Rapuano, MD Professor, Department of Ophthalmology, Jefferson Medical College of Thomas Jefferson University; Director of the Cornea Service, Co-Director of Refractive Surgery Department, Wills Eye Hospital

Christopher J Rapuano, MD is a member of the following medical societies: American Academy of Ophthalmology, American Ophthalmological Society, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, International Society of Refractive Surgery, Cornea Society, Eye Bank Association of America

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cornea Society, Allergan, Bausch & Lomb, Bio-Tissue, Shire, TearScience, TearLab<br/>Serve(d) as a speaker or a member of a speakers bureau for: Allergan, Bausch & Lomb, Bio-Tissue, TearScience.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Fernando H Murillo-Lopez, MD Senior Surgeon, Unidad Privada de Oftalmologia CEMES

Fernando H Murillo-Lopez, MD is a member of the following medical societies: American Academy of Ophthalmology

Disclosure: Nothing to disclose.

References
  1. Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, et al. The IC3D classification of the corneal dystrophies. Cornea. 2008 Dec. 27 Suppl 2:S1-83. [Medline]. [Full Text].

  2. Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23. 4:7. [Medline]. [Full Text].

  3. Kannabiran C. Genetics of corneal endothelial dystrophies. J Genet. 2009 Dec. 88(4):487-94. [Medline].

  4. Quantock AJ, Young RD, Akama TO. Structural and biochemical aspects of keratan sulphate in the cornea. Cell Mol Life Sci. 2009 Dec 27. [Medline].

  5. Al-Swailem SA, Al-Rajhi AA, Wagoner MD. Penetrating keratoplasty for macular corneal dystrophy. Ophthalmology. 2005 Feb. 112(2):220-4. [Medline].

  6. Hashemi H, Dadgostar A. Automated lamellar therapeutic keratoplasty with fibrin adhesive in the treatment of anterior corneal opacities. Cornea. 2011 Jun. 30(6):655-9. [Medline].

  7. Albert D, Jakobiec F. Principles and Practice of Ophthalmology. 1996. Vol 1: 26-49.

  8. Edward DP, Yue BY, Sugar J, et al. Heterogeneity in macular corneal dystrophy. Arch Ophthalmol. 1988 Nov. 106(11):1579-83. [Medline].

  9. Hafner A, Langenbucher A, Seitz B. Long-term results of phototherapeutic keratectomy with 193-nm excimer laser for macular corneal dystrophy. Am J Ophthalmol. 2005 Sep. 140(3):392-6. [Medline].

  10. Klintworth GK, Meyer R, Dennis R, et al. Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea. Ophthalmic Paediatr Genet. 1986 Dec. 7(3):139-43. [Medline].

  11. Krachmer J. Cornea. Vol 2: 1996.

  12. Wirtitsch MG, Ergun E, Hermann B. Ultrahigh resolution optical coherence tomography in macular dystrophy. Am J Ophthalmol. 2005 Dec. 140(6):976-983. [Medline].

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Macular dystrophy. Image courtesy of James J. Reidy, MD, FACS, Associate Professor of Ophthalmology, State University of New York, School of Medicine & Biomedical Sciences, Buffalo, New York.
Macular dystrophy.
 
 
 
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