Macular Dystrophy Clinical Presentation

  • Author: Natalie Afshari, MD, MA, FACS; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Jan 26, 2010
 

History

  • In many patients, macular dystrophy is first visible in the cornea during the first decade of life.
  • Generally, over time, vision decreases, 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, gray-white opacities that are present in the corneal stroma and extend into the peripheral cornea. (In granular dystrophy, the deposits are located centrally.)
  • These stromal opacities are distributed throughout the cornea without clear spaces. (Granular dystrophy has clear zones.)
  • 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.
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Causes

  • Macular dystrophy is autosomal recessive.
  • The gene responsible for macular dystrophy is located on chromosome 6.
  • The metabolic defect for this condition appears to be an error in the synthesis of keratan sulfate.
  • Two types of macular dystrophy exist based on the absence or presence of keratan sulfate within the corneal stroma. Type I macular dystrophy has an absence of keratan sulfate, whereas in type II, keratan sulfate is present.
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Contributor Information and Disclosures
Author

Natalie Afshari, MD, MA, FACS  Associate Professor of Ophthalmology, Duke University Eye Center, Duke University Medical Center

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

Disclosure: Nothing to disclose.

Coauthor(s)

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 and American Society of Cataract and Refractive Surgery

Disclosure: Allergan Consulting fee Consulting; Alcon Consulting fee Consulting; Inspire Consulting fee Consulting; Abbott Medical Optics Consulting fee Consulting

William Lloyd Clark, MD  Consulting Staff, Palmetto Retina

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Simon K Law, MD, PharmD  Associate Professor 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, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

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 Institute

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

Disclosure: Allergan Honoraria Speaking and teaching; Allergan Consulting fee Consulting; Alcon Honoraria Speaking and teaching; Inspire Honoraria Speaking and teaching; RPS Ownership interest Other; Vistakon Honoraria Speaking and teaching; EyeGate Pharma Consulting; Inspire Consulting fee Consulting; Bausch & Lomb Honoraria Speaking and teaching; Bausch & Lomb Consulting fee Consulting

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

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, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

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

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

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

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

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

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

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

  8. Krachmer J. Cornea. Vol 2. 1996.

  9. Wirtitsch MG, Ergun E, Hermann B. Ultrahigh resolution optical coherence tomography in macular dystrophy. Am J Ophthalmol. Dec 2005;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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