Fuchs Endothelial Dystrophy Clinical Presentation

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

History

  • Fuchs endothelial dystrophy is a bilateral, slowly progressive degeneration of the cornea. It affects women 2-4 times more often than men. Patients often volunteer information about affected sisters and brothers.
  • The condition may be detected by chance, on slit lamp examination, or during a routine checkup.
  • A patient may complain of less than satisfactory 20/20 vision.
    • Early morning vision may be reported as misty. As the day progresses, the mist clears. An observant patient may make this complaint.
    • Mistiness may remain much longer than merely in the morning. It may persist the whole day. In the early stages, it is improved by use of hypertonic drops and ointment.
  • Patients may have difficulty performing visual tasks, which require attention to fine letters or figures.
  • Patients may see halos around the sources of light.
  • Patients may feel a gritty or foreign body sensation during part of or during the whole day.
  • Progressive fall in the corrected visual acuity occurs over previous months or years.
  • Attacks of redness, pain, and watering, lasting for hours or days occurs.
  • Constant redness, pain, watering, and poor vision may be present.
  • Rapid onset of symptoms of fading vision and irritation after an intraocular operation, especially for cataract, may occur.
  • A slow and poor recovery of vision may occur after a cataract operation.
  • Increasing visual deterioration may develop, sometimes weeks or months after a successful Nd:YAG laser surgery for secondary cataract.
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Physical

  • Lids
    • Lids are normal in early cases.
    • They may appear red and congested in advanced cases.
  • Conjunctiva
    • Conjunctiva is normal in early cases.
    • It may be highly congested, especially around the limbus, when epithelial erosion, bullae formation, or infected ulceration is present.
  • Corneal epithelium
    • The corneal epithelium is normal and transparent in early cases.
    • Bedewing of the epithelium occurs because of epithelial edema.
    • Epithelial bullae may be present.
    • Pannus formation occurs.
    • Ulceration with or without infection may be present.
    • The corneal epithelium may be thick and opaque.
  • Corneal stroma
    • The corneal stroma has a normal transparency in early cases.
    • Appearance of striae in the deeper layers is observed due to folds in the Descemet membrane.
    • Edema of the corneal stroma occurs, first posteriorly and later anteriorly.
    • Thickening of the corneal stroma develops.
    • Vascularization is present.
  • Corneal endothelium
    • Presence of cornea guttata in the central area occurs, as seen on slit lamp examination under high magnification or on specular reflection.
    • Beaten metal appearance may be seen in specular reflection. A similar appearance may be visible at the edge of the central corneal on retroillumination.
  • Anterior chamber is normal unless it is involved in some complication of the cornea.
  • Iris, lens, vitreous, and retina are not involved in the process.
  • Intraocular pressure
    • Intraocular pressure (IOP) is within the reference range.
    • IOP may be raised independently of the disease.
  • Vision
    • Vision is normal.
    • Vision may be reduced to a varying degree because of a corneal irregularity or opacification or corneal complication.
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Causes

  • Several studies have proposed an autosomal dominant inheritance with high degree of penetrance for Fuchs endothelial dystrophy.[4] It affects females 2-4 times more than males. Females are more severely affected than males.
  • Another hypothesis suggests that dysfunction of the endothelial mitochondria, potentially resulting from abnormalities of the mitochondrial genome, may underlie the endothelial cell failure that characterizes Fuchs endothelial dystrophy.
  • Results of a genomewide association study and replication studies showed that E2-2 protein was associated with Fuchs corneal dystrophy (FCD). The association of alleles in the transcription factor 4 gene (TCF4), which encodes an E2-2 protein, increased the odds of FCD by 30 for homozygotes. This type of genetic testing may be useful in the future.[5]
  • Associated factors include the following:
    • Keratoconus
    • Cardiovascular disease
    • Axial hypermetropia
    • Female hormones
    • Inflammation (pseudo-Fuchs endothelial dystrophy)
    • Acute angle-closure glaucoma: This may complicate the course of Fuchs endothelial dystrophy, presumably because the thick peripheral cornea further compromises the already narrow angle, including acute angle closure form.
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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

  1. Lorenzetti DW, Uotila MH, Parikh N, Kaufman HE. Central cornea guttata. Incidence in the general population. Am J Ophthalmol. Dec 1967;64(6):1155-8. [Medline].

  2. Hecker LA, McLaren JW, Bachman LA, Patel SV. Anterior keratocyte depletion in fuchs endothelial dystrophy. Arch Ophthalmol. May 2011;129(5):555-61. [Medline].

  3. 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. Mar 2011;129(3):332-6. [Medline].

  4. Cross HE, Maumenee AE, Cantolino SJ. Inheritance of Fuchs' endothelial dystrophy. Arch Ophthalmol. Mar 1971;85(3):268-72. [Medline].

  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].

  7. 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. Dec 2011;118(12):2368-73. [Medline].

  8. 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. Dec 22 2009;[Medline].

  9. Rao SK, Leung CK, Cheung CY, et al. Descemet stripping endothelial keratoplasty: effect of the surgical procedure on corneal optics. Am J Ophthalmol. Jun 2008;145(6):991-6. [Medline].

  10. 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. Dec 2011;129(12):1537-42. [Medline].

  11. Brady SE, Rapuano CJ, Arentsen JJ, et al. Clinical indications for and procedures associated with penetrating keratoplasty, 1983-1988. Am J Ophthalmol. Aug 15 1989;108(2):118-22. [Medline].

  12. Adamis AP, Filatov V, Tripathi BJ, Tripathi RC. Fuchs' endothelial dystrophy of the cornea. Surv Ophthalmol. Sep-Oct 1993;38(2):149-68. [Medline].

  13. [Guideline] American Academy of Ophthalmology Refractive Management/Intervention Panel. Refractive errors & refractive surgery. San Francisco (CA): American Academy of Ophthalmology; 2007.

  14. Basak SK. Descemet stripping and endothelial keratoplasty in endothelial dysfunctions: three-month results in 75 eyes. Indian J Ophthalmol. Jul-Aug 2008;56(4):291-6. [Medline].

  15. Borboli S, Colby K. Mechanisms of disease: Fuchs' endothelial dystrophy. Ophthalmol Clin North Am. Mar 2002;15(1):17-25. [Medline].

  16. Melles GR, Remeijer L, Geerards AJ, Beekhuis WH. The future of lamellar keratoplasty. Curr Opin Ophthalmol. Aug 1999;10(4):253-9. [Medline].

  17. Rodrigues MM, Krachmer JH, Hackett J, Gaskins R, Halkias A. Fuchs' corneal dystrophy. A clinicopathologic study of the variation in corneal edema. Ophthalmology. Jun 1986;93(6):789-96. [Medline].

  18. Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs' Dystrophy. Am J Ophthalmol. Oct 1980;90(4):455-62. [Medline].

  19. Singh D. Ablation pit treatment for corneal decompensation. Ann Ophthalmol (Skokie). 2006;38(1):21-4. [Medline].

  20. Wilson SE, Bourne WM. Fuchs' dystrophy. Cornea. 1988;7(1):2-18. [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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