Fuchs Endothelial Dystrophy Clinical Presentation
- Author: Daljit Singh, MBBS, MS, DSc; Chief Editor: Hampton Roy, Sr, MD more...
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.
Lids are normal in early cases.
They may appear red and congested in advanced cases.
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.
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.
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.
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
Iris, lens, vitreous, and retina are not involved in the process.
Intraocular pressure (IOP) is within the reference range.
IOP may be raised independently of the disease.
Vision is normal.
Vision may be reduced to a varying degree because of a corneal irregularity or opacification or corneal complication.
Several studies have proposed an autosomal dominant inheritance with high degree of penetrance for Fuchs endothelial dystrophy. 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.
Associated factors include the following:
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.
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].