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Corneal Stromal Dystrophy

Corneal stromal dystrophy is, in fact, a term used to describe a number of related conditions, which cause opacification of the cornea. It is a sub division of a broader group of corneal dystrophies. The etiology is genetic, although inheritance patterns vary.


Presentation

Corneal stromal dystrophy (CSD) includes a number of disorders such as macular, granular, reticular, lattice, fleck, and congenital stroma dystrophies [1]. It is a genetic disease, and its incidence varies between different regions [2] [3]. The inheritance pattern of CSD is mostly autosomal dominant, although other patterns such as recessive or X-linked have been described. Mutations in any one of several genes, such as transforming growth factor beta-induced (TGFBI), carbohydrate sulfotransferase 6 (CHST6), or keratin 3 (KRT3), lead to particular forms of CSD [4] [5]. The extent of the phenotypic expression of a mutation varies between individuals. Corneal dystrophies, in general, involve disease of the cornea, while CSD specifically affects the stroma.

CSD is characterized by corneal opacities that are often bilateral and symmetrical. These lesions are caused by the deposition of non-transparent matter, which is not preceded by a history of inflammation or trauma to the eye. The deposited material may be present as ill-defined or irregular sheet, line, ring, dot or flake shaped areas. The surrounding cornea may be clear or opacified as well.

The features of CSD are variable with regard to the degree of visual impairment, presence or absence of systemic symptoms, and the severity of symptoms. CSD is usually slowly progressive. It may manifest congenitally (for example in congenital stroma corneal dystrophy), or as late as the fourth decade of life (for example in lattice corneal dystrophy type II), although its onset is commonly during childhood (examples are macular, fleck and granular corneal dystrophy) [6]. Visual impairment is manifested as mild to severely decreased visual acuity, due to the altered corneal composition as well as reduced focusing power, although some patients such as those with fleck corneal dystrophy (FCD) suffer no loss of acuity throughout the course of the disease.

Pathologist
  • C ity M acular dystrophy - M ucopolysaccharide - A lcian blue G ranular dystrophy - H yaline materials - M asson trichrome L attice dystrophy - A myloid - C ongo Red T his mnemonic is obviously dreamed up by some retired pathologists in LA City.[mrcophth.com]
  • However, the histopathological exam of all cases was performed by different pathologists from different institutions and without a standard method.[scielo.br]
  • Pathology images that use specific dyes may help the pathologist post-operatively because the images are usually harvested from the whole cornea rather than from biopsies.[clspectrum.com]
Myopathy
  • […] dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy[en.wikipedia.org]
Corneal Edema
  • Most patients remain asymptomatic and corneal edema is usually absent.[en.wikipedia.org]
  • Further electron microscopic study of hereditary corneal edema. Invest Ophthalmol 1971;10:545-54. 11. Kanai A, Waltman S, Polack FM, Kaufman HE. Electron microscopic study of hereditary corneal edema. Invest Ophthalmol 1971;10:89-99. 12.[reviewofophthalmology.com]
  • Foulks GN: Treatment of recurrent corneal erosions and corneal edema with topical osmotic colloidal solution. Ophthalmology 88:801, 1981 21.[oculist.net]
  • Congenital hereditary corneal edema of Maumenee: its clinical fetures, management, and pathology. Br J Opthalmol. 1987; 71:130-44. 80. Schid E, Lisch W, Philipp W, et al. A new, X-linked endothelial corneal dystrophy.[reviewofcontactlenses.com]
Protruding Lips
  • lips, skin laxity, "hound dog" ) cranial and peripheral neuropathy -cardiac and renal failure -lattice may look like prominent corneal nerves (nerves won't show up in retroillumination ) -manifests later in life than L1 Lattice 3 and 3A Dystrophy -stromal[studyblue.com]
  • lips and pendulous ears (due to amyloid deposition and secondary muscular dysfunction) Pathology Sub-Bowman layer deposits of amyloid lattice lines and intra-lamellar amyloid deposits, most prominent at the limbus.[eyewiki.aao.org]
  • It presents in early adulthood with peripheral neuropathies, cranial neuropathies, hound-like facies, dry skin, blepharochalasis, protruding lips, and corneal lattice lines.[webeye.ophth.uiowa.edu]

Workup

Diagnosis is usually clinical, and combines the patient's history, such as age of onset and family history of corneal stromal dystrophy, with the observation of abnormal deposits on the cornea by a slit lamp examination. This is reinforced by molecular and biochemical analysis conducted on excised corneal tissue [7] [8] [9]. These tests include:

  • Molecular genetic testing and analysis: This is not only useful in confirming a suspected diagnosis, but also in establishing the correct diagnosis in unconventional clinical presentations.
  • Histopathological tissue analysis under light or electron microscopy, using dyes such as Congo red and Alcian blue [6].
  • In vivo confocal microscopy: This allows real time microscopic visualization of ocular structures without tissue sampling.

Genetic counseling with a focus on expected disease progression and management options may be provided to patients and their families. Although prenatal diagnosis via amniocentesis or biopsy is theoretically possible, it is not carried out as the condition is not lethal.

Treatment

  • Treatment Treatment Options: Penetrating keratoplasty can be successful in restoring vision. Grafts have been reported to remain clear for up to 36 years in more than half of the patients in one series but opacities recurred in others.[disorders.eyes.arizona.edu]
  • Helps you make optimal use of the newest drug therapies, including Anti-VEGF treatment for wet ARMD and bevacizumab treatment for complications of diabetes.[books.google.com]
  • […] problems; can coalesce (keratoplasty) Granular Type 2 ( Avellino ) Dystrophy -hyaline deposits, but also linear or snow-flake like amyloid deposits - not a lattice dystrophy, but looks like it -more dense centrally ; can coalesce (keratoplasty) -laser treatment[studyblue.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Personalized care will be the future for medicine as opposed to one treatment for everyone.[eyeworld.org]

Prognosis

  • Most importantly, genetic testing provides information about prognosis in an individual patient, counseling for families of the affected patient, risk assessment for patients who are undergoing transplantation with respect to disease recurrence, and can[eyeworld.org]
  • Regraft is possible, but the long-term prognosis is worse than for the original graft. Keratoprosthesis (artificial cornea) can be placed if grafts fail repeatedly.[merckmanuals.com]
  • Onset of corneal changes in lattice corneal dystrophy type II occurs at age 30-40 years, but most patients do not experience symptoms until their seventh decade of life. [2] Prognosis Lattice corneal dystrophy demonstrates variable penetrance and expression[emedicine.medscape.com]

Etiology

  • The etiology is genetic, although inheritance patterns vary. Corneal stromal dystrophy (CSD) includes a number of disorders such as macular, granular, reticular, lattice, fleck, and congenital stroma dystrophies.[symptoma.com]
  • Relatives of patients with corneal stromal dystrophies can now find out whether they have the condition, as well as those patients who have atypical stromal pathology of unknown etiology.[eyeworld.org]
  • Incidence/Prevalence: Macular dystrophy is much less common than BIGH3 dystrophies Etiology: Macular dystrophy exhibits an autosomal recessive pattern of inheritance.[missionforvisionusa.org]
  • Pathophysiology: The etiology of Terrien's marginal degeneration is poorly understood.[oogziekenhuis.me]
  • Etiology Fleck corneal dystrophy is caused by a mutation in the PIKFYVE gene (2q34). Diagnostic methods Lesions are mostly minute and symmetrical.[orpha.net]

Epidemiology

  • Because we only had one case of macular dystrophy, any conclusion about epidemiological data could be misleading.[scielo.br]
  • Summary Epidemiology Prevalence of this form of corneal dystrophy is not known. FCD affects males and females equally. Clinical description The condition may occur throughout life and has been reported in children as young as 2 years of age.[orpha.net]
  • […] acular Dystrophy M onroe— M ucopolysaccharide A lways— A lcian Blue stain G ets— G ranular Dystrophy H er— H yaline M an in— M asson Trichrome stain L os— L attice Dystrophy A ngeles— A myloid C alifornia— C ongo Red OVERVIEW: CORNEAL STROMAL DYSTROPHIES EPIDEMIOLOGY[webeye.ophth.uiowa.edu]
  • Epidemiology of corneal blindness in developing countries. J Refract Corneal Surg 1991; 7: 436-39. 11. W. John Armitage. Preservatin of human cornea. Transfus Med Hemother 2011; 38: 143-7. 12.[jpma.org.pk]
  • Epidemiology Frequency United States Although lattice corneal dystrophy type I is one of the most common stromal dystrophies in the Western world, it is still relatively rare. [5, 1] International Cases of lattice corneal dystrophy type I have been recognized[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Further elaboration on the possible genetic, histopathologic, pathophysiologic and biochemical correlation is required to study the nature of the condition.[ojoonline.org]
  • Pathophysiology: The etiology of Terrien's marginal degeneration is poorly understood.[oogziekenhuis.me]
  • The identification of the mutation responsible for the corneal dystrophy is a critical step toward understanding the pathophysiology of the formation of the deposits.[reviewofoptometry.com]
  • Although the pathophysiology of age-related cataracts is not fully understood, the above mentioned changes are well known to be involved in this pathology.[neurohope.ro]
  • Pathophysiology The cornea is the clear outer coat of the front of the eye. A dystrophy of the cornea is defined as a bilateral noninflammatory clouding of the cornea.[emedicine.medscape.com]

Prevention

  • The sample was transferred at 4 C and stored in culture medium that contained Dextran to prevent swelling. During X-ray data collection the sample was wrapped in plastic membrane and was placed between Mylar windows to prevent dehydration.[journals.plos.org]
  • After early healing of the corneal erosion preventive treatment consists of sodium chloride 5% drops (brand name Muro 128) and artificial tear lubricating drops (e.g.[mastereyeassociates.com]
  • Beyond the POLARIS TGFBI test, the team in Singapore is currently working on a topical medication that will not only dissolve the aggregates in the cornea, but also prevent protein aggregation.[eyeworld.org]
  • Prevention There are no preventive measures for corneal dystrophies, because they are genetic in origin. Genetic counseling is available for affected families and can be very helpful for support and information.[yoursightmatters.com]
  • No effective treatments to prevent or attenuate the deposition of the keratoepithelin have been identified. The dystrophies typically have an autosomal dominant inheritance and involve Bowman layer and stroma (3).[webeye.ophth.uiowa.edu]

References

Article

  1. Weiss JS, Møller HU, Lisch W, et al. The IC3D classification of the corneal dystrophies. Cornea 2008;27 Suppl 2:S1-83.
  2. Pandrowala H, Bansal A, Vemuganti GK, Rao GN. Frequency, distribution, and outcome of keratoplasty for corneal dystrophies at a tertiary eye care center in South India. Cornea. 2004;23(6):541-546.
  3. Shah SS, Al-Rajhi A, Brandt JD, et al. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Ophthalmic Genet. 2008;29(1):41-45.
  4. Bron AJ. Genetics of the corneal dystrophies: what we have learned in the past twenty-five years. Cornea. 2000;19(5):699-711.
  5. Poulaki V, Colby K. Genetics of anterior and stromal corneal dystrophies. Semin Ophthalmol. 2008;23(1): 9-17.
  6. Waring GO, 3rd, M.M. Rodrigues, Laibson PR. Corneal dystrophies. I. Dystrophies of the epithelium, Bowman's layer and stroma. Surv Ophthalmol. 1978;23(2):71-122.
  7. Santo RM, Yamaguchi T, Kanai A, Okisaka S, Nakajima A. Clinical and histopathologic features of corneal dystrophies in Japan. Ophthalmology. 1995;102(4):557-567.
  8. Aldave AJ. The genetics of the corneal dystrophies. Dev Ophthalmol. 2011;48:51-66.
  9. Fujiki K, Nakayasu K, Kanai A. Corneal dystrophies in Japan. J Hum Genet. 2001;46(8):431-435.

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Last updated: 2019-07-11 20:30