Fuchs Endothelial Dystrophy Workup
- Author: Daljit Singh, MBBS, MS, DSc; Chief Editor: Hampton Roy, Sr, MD more...
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:
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.
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.
Lorenzetti DW, Uotila MH, Parikh N, Kaufman HE. Central cornea guttata. Incidence in the general population. Am J Ophthalmol. 1967 Dec. 64(6):1155-8. [Medline].
Hecker LA, McLaren JW, Bachman LA, Patel SV. Anterior keratocyte depletion in fuchs endothelial dystrophy. Arch Ophthalmol. 2011 May. 129(5):555-61. [Medline].
Higa A, Sakai H, Sawaguchi S, et al. Prevalence of and risk factors for cornea guttata in a population-based study in a southwestern island of Japan: the kumejima study. Arch Ophthalmol. 2011 Mar. 129(3):332-6. [Medline].
Cross HE, Maumenee AE, Cantolino SJ. Inheritance of Fuchs' endothelial dystrophy. Arch Ophthalmol. 1971 Mar. 85(3):268-72. [Medline].
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. 2010 Sep 9. 363(11):1016-24. [Medline].
Laing RA, Leibowitz HM, Oak SS, et al. Endothelial mosaic in Fuchs' dystrophy. A qualitative evaluation with the specular microscope. Arch Ophthalmol. 1981 Jan. 99(1):80-3. [Medline].
Guerra FP, Anshu A, Price MO, Giebel AW, Price FW. Descemet's Membrane Endothelial Keratoplasty Prospective Study of 1-Year Visual Outcomes, Graft Survival, and Endothelial Cell Loss. Ophthalmology. 2011 Dec. 118(12):2368-73. [Medline].
Price MO, Gorovoy M, Benetz BA, et al. Descemet's Stripping Automated Endothelial Keratoplasty Outcomes Compared with Penetrating Keratoplasty from the Cornea Donor Study. Ophthalmology. 2009 Dec 22. [Medline].
Rao SK, Leung CK, Cheung CY, et al. Descemet stripping endothelial keratoplasty: effect of the surgical procedure on corneal optics. Am J Ophthalmol. 2008 Jun. 145(6):991-6. [Medline].
van der Meulen IJ, Patel SV, Lapid-Gortzak R, et al. Quality of vision in patients with fuchs endothelial dystrophy and after descemet stripping endothelial keratoplasty. Arch Ophthalmol. 2011 Dec. 129(12):1537-42. [Medline].
Dirisamer M, van Dijk K, Dapena I, Ham L, Oganes O, Frank LE. Prevention and management of graft detachment in descemet membrane endothelial keratoplasty. Arch Ophthalmol. 2012 Mar. 130(3):280-91. [Medline].
Brady SE, Rapuano CJ, Arentsen JJ, et al. Clinical indications for and procedures associated with penetrating keratoplasty, 1983-1988. Am J Ophthalmol. 1989 Aug 15. 108(2):118-22. [Medline].
Adamis AP, Filatov V, Tripathi BJ, Tripathi RC. Fuchs' endothelial dystrophy of the cornea. Surv Ophthalmol. 1993 Sep-Oct. 38(2):149-68. [Medline].
[Guideline] American Academy of Ophthalmology Refractive Management/Intervention Panel. Refractive errors & refractive surgery. San Francisco (CA): American Academy of Ophthalmology; 2007.
Borboli S, Colby K. Mechanisms of disease: Fuchs' endothelial dystrophy. Ophthalmol Clin North Am. 2002 Mar. 15(1):17-25. [Medline].
Melles GR, Remeijer L, Geerards AJ, Beekhuis WH. The future of lamellar keratoplasty. Curr Opin Ophthalmol. 1999 Aug. 10(4):253-9. [Medline].
Rodrigues MM, Krachmer JH, Hackett J, Gaskins R, Halkias A. Fuchs' corneal dystrophy. A clinicopathologic study of the variation in corneal edema. Ophthalmology. 1986 Jun. 93(6):789-96. [Medline].
Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs' Dystrophy. Am J Ophthalmol. 1980 Oct. 90(4):455-62. [Medline].
Singh D. Ablation pit treatment for corneal decompensation. Ann Ophthalmol (Skokie). 2006. 38(1):21-4. [Medline].
Wilson SE, Bourne WM. Fuchs' dystrophy. Cornea. 1988. 7(1):2-18. [Medline].