Fuchs Endothelial Dystrophy Workup

  • Author: Daljit Singh, MBBS, MS, DSc; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Jan 17, 2012
 

Other Tests

  • Perform specular endothelial microscopy examinations of all siblings of patients with Fuchs endothelial dystrophy. The photographs of the affected corneas may be kept for future reference. Endothelial cell density, hexagonality, and polymegethism may be recorded. The following 5 stages may be seen, as described by Laing et al:[6]
    • Stage 1: The guttate excrescences are in the form of dark structures with sharply defined single bright spots at their center. The structures are considerably smaller in size than a single endothelial cell. Such an excrescence does not lie near the boundary wall of the cell.
    • Stage 2: The excrescence is almost the size of the endothelial cell. The surrounding cells have a stretched appearance.
    • Stage 3: The excrescence is considerably larger, and many cells are involved in one lesion. The dark structure is 5-10 times the size of an endothelial cell. The adjacent cells are abnormal and have missing boundaries. Many lesions are seen close to each other, but they do not coalesce. The excrescences are of 2 types, a smooth round shape or a rough excrescence.
    • Stage 4: The individual excrescences have coalesced. The net result is multilobed, rather than a round outline. The dark areas have many bright spots. The multilobulated structures cover considerable area. The cells between the excrescence masses tend to become abnormal. Coalesced areas contain both the smooth and the rough variety of excrescences.
    • Stage 5: An organized mosaic of endothelial cells is difficult to see. Many stages may be observed in the different areas of the same eye.
  • Pachymetry is a good way of gauging the increase in corneal edema. The thickness can be compared with the new readings on subsequent visits. Increasing thickness of the cornea means increasing corneal endothelial decompensation. Presence of Descemet folds, epithelial bedewing, and corneal thickness of greater than 0.62 mm indicates potential decompensation.
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Histologic Findings

  • In the early stages, the focal thickening of the Descemet membrane is similar to those seen in the Hassall-Henle warts of the peripheral cornea. The corneal endothelium appears stretched and thinned over the dome of the excrescences.
  • In advanced cases, a generalized thickening of the Descemet membrane is observed. This thickening appears to bury the cornea guttata that formed in the earlier stages.
  • In normal corneas, histologic preparations show lamellar separation as an artifact. In the cases of corneal edema, the artifactitious lamellar separation of the lamellae is reduced. Subepithelial bullae formation is seen at the anterior corneal surface. In the periphery of the cornea, subepithelial fibrous tissue is usually seen. Intraepithelial cysts filled with cellular debris are also seen. Intraepithelial basement membrane formation may occur due to the misdirection of the epithelial cells. The Bowman membrane is normal, unless it has been involved in ulcer formation and keratitis, after the rupture of a bulla.
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Contributor Information and Disclosures
Author

Daljit Singh, MBBS, MS, DSc  Professor Emeritis, Department of Ophthalmology, Guru Nanak Dev University, Amritsar, India; Director, Daljit Singh Eye Hospital

Daljit Singh, MBBS, MS, DSc is a member of the following medical societies: All India Ophthalmological Society, American Society of Cataract and Refractive Surgery, Indian Medical Association, International Intraocular Implant Club, and Intraocular Implant and Refractive Society, India

Disclosure: Nothing to disclose.

Coauthor(s)

Vikas Mittal, MBBS, MS  Medical Director and Consultant Cornea Surgeon, Sanjivni Eye Care, India

Vikas Mittal, MBBS, MS is a member of the following medical societies: All India Ophthalmological Society

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; 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.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous coauthor, Ravijit Singh, MD, to the development and writing of this article.

References

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  5. Baratz KH, Tosakulwong N, Ryu E, Brown WL, Branham K, Chen W, et al. E2-2 Protein and Fuchs's Corneal Dystrophy. N Engl J Med. Sep 9 2010;363(11):1016-24. [Medline].

  6. Laing RA, Leibowitz HM, Oak SS, et al. Endothelial mosaic in Fuchs' dystrophy. A qualitative evaluation with the specular microscope. Arch Ophthalmol. Jan 1981;99(1):80-3. [Medline].

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Familial Fuchs endothelial dystrophy in a 65-year-old female. The other eye presented similarly. Her father and older brother were reported to have the same malady.
The left eye of a 75-year-old man showing fully developed Fuchs endothelial dystrophy. The optical section shows marked thickening of the central part of the cornea and lifting up of the epithelium. Bullae formation is seen on the nasal side. The epithelium is thickened.
Close-up view of the limbal area of the same patient as in Media file 2. It clearly shows thickening of the epithelium, bullae formation, and vascularization of the cornea.
An optical section through the right cornea of the same patient as in Media file 3. It shows edema of the cornea and severe endothelial changes. The endothelial cell count in this eye was 800 cells/mm2.
Severe cornea guttata in a 61-year-old woman. The endothelium is speckled with pigment. This patient had complained of mistiness in her otherwise excellent vision.
Slit lamp examination under high magnification of a 54-year-old man, showing severe cornea guttata. The cornea illuminated by retroillumination from the edge of the slit light on the iris resembles dewdrops.
Pseudoguttata produced by uveal inflammation. Corneal edema is also present. The other eye was normal. These "guttata" disappeared completely under treatment.
Specular endothelial microscopy in a case of severe cornea guttata with transparent cornea. The guttata lesions have affected many individual cells and groups of cells.
Corneal edema in the eye of a 67-year-old woman.
 
 
 
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