Granular Dystrophy Clinical Presentation

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

History

  • Patients with granular dystrophy may have decreased vision, photosensitivity, and/or eye pain (from recurrent corneal erosions).
  • Because granular dystrophy is autosomal dominant, one of the parents likely has granular corneal dystrophy as well.
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Physical

  • Granular dystrophy is characterized by bilateral formation of discrete, focal, white granular deposits in the anterior stroma of cornea with clear areas between these deposits.
  • The granules are primarily located in the central cornea, with an absence of these deposits in the peripheral cornea.
  • The deposits can resemble crushed breadcrumbs or snowflakes. As patients advance in age, the deposits become larger and increase in number. Eventually, the intervening clear areas develop a mild-to-severe corneal haze.
  • When there are clear spaces between the deposits, the vision generally is not affected severely. However, over time, the clear spaces become involved with opacity. This later onset opacity in the previously clear spaces is usually much more superficial than the longstanding, dense white granules. The vision dramatically declines when the clear spaces opacify.
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Causes

  • Granular dystrophy is an autosomal dominant condition; its genetic defect has been mapped to chromosome 5q.
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Proceed to Differential Diagnoses
 
 
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.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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; RPS Ownership interest Other; EyeGate Pharma Consulting fee Consulting; Bausch & Lomb Honoraria Speaking and teaching; Bausch & Lomb Consulting; Merck Honoraria Speaking and teaching

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. Grunauer-Kloevekorn C, Brautigam S, Wolter-Roessler M. Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?. Klin Monatsbl Augenheilkd. Dec 2005;222(12):1017-23. [Medline].

  2. Mori H, Miura M, Iwasaki T, et al. Three-dimensional optical coherence tomography-guided phototherapeutic keratectomy for granular corneal dystrophy. Cornea. Sep 2009;28(8):944-7. [Medline].

  3. Dalton K, Schneider S, Sorbara L, Jones L. Confocal microscopy and optical coherence tomography imaging of hereditary granular dystrophy. Cont Lens Anterior Eye. Nov 27 2009;[Medline].

  4. Das S, Langenbucher A, Seitz B. Excimer laser phototherapeutic keratectomy for granular and lattice corneal dystrophy: a comparative study. J Refract Surg. Nov-Dec 2005;21(6):727-31. [Medline].

  5. Albert D, Jakobiec F. Principles and Practice of Ophthalmology. Vol 1. 1994:26-49.

  6. Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol. Dec 1999;128(6):747-54. [Medline].

  7. Krachmer J. Cornea. Vol 2. 1996.

  8. Yamamoto S, Okada M, Tsujikawa M, et al. The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy. Cornea. May 2000;19(3 Suppl):S21-3. [Medline].

 
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Granular 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.
The slit lamp parallelipid demonstrates the deposition of opacities throughout the central stroma.
 
 
 
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