Macular corneal dystrophy | |
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Colloidal iron staining shows deposition of glycosaminoglycans in the cornea | |
Specialty | Ophthalmology |
Macular corneal dystrophy, also known as Fehr corneal dystrophy, is a rare pathological condition affecting the stroma of cornea first described by Arthur Groenouw in 1890. [1] Signs are usually noticed in the first decade of life and progress afterwards, with opacities developing in the cornea and attacks of pain. This gradual opacification leads to visual impairment often requiring keratoplasty in the later decades of life. [2]
While Macular Corneal Dystrophy is found throughout the world, countries with the highest prevalence include Iceland, Saudi Arabia, India, and the United States. [3] [4] [5] In Iceland, MCD accounts for almost one-third of all corneal grafts performed. [4] Estimates from Claims Data in the United States place the prevalence of MCD at 9.7 per million, which represents less than 1% of corneal dystrophies. [6]
Macular Corneal Dystrophy is an autosomal recessive genetic disorder caused by mutations in the carbohydrate sulfotransferase gene (CHST6), resulting in abnormal proteoglycan synthesis. The accumulation of abnormal glycosaminogycans in the corneal epithelium and stroma leads to progressive opacification of the cornea and subsequent loss of visual acuity. [7] [8] There are three variants of MCD characterized by immunophenotype:
These three variants are clinically and histopathologically indistinguishable.
The first signs of MCD are cloudy regions that appear on the cornea during adolescence, although opacification may be noticed as early as the first decade. These minute, gray, punctate opacities will over time merge into larger areas, causing the entire corneal stroma to become opaque. Ultimately this results in severe visual impairment, generally before the 5th decade of life. [2]
While some individuals remain asymptomatic, initial symptoms typically consist of painful attacks with photophobia, foreign body sensations, and recurrent erosions. [7] Corneal sensitivity is also reduced. [2]
Histopathological staining shows characteristic alcian blue-positive deposits. [7] Various imaging modalities, including confocal microscopy and ocular coherence tomography, can provide information about the changes within the cornea and may be suitable replacements for tissue biopsy and excision. [8]
When visual acuity is impacted, various forms of keratoplasty are often indicated. While corneal transplant has traditionally been the standard treatment, less-invasive surgical techniques such as deep anterior lamellar keratoplasty and photo-therapeutic keratectomy are increasingly playing a role in management of MCD. [8] While post-operative prognosis is favorable, reoccurrences may occur. [7]
Various gene therapies, including enzyme replacement therapy and gene-targeting therapy, remain a potential future treatment modality for MCD. [8]
Keratoconus (KC) is a disorder of the eye that results in progressive thinning of the cornea. This may result in blurry vision, double vision, nearsightedness, irregular astigmatism, and light sensitivity leading to poor quality-of-life. Usually both eyes are affected. In more severe cases a scarring or a circle may be seen within the cornea.
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power. In humans, the refractive power of the cornea is approximately 43 dioptres. The cornea can be reshaped by surgical procedures such as LASIK.
The corneal endothelium is a single layer of endothelial cells on the inner surface of the cornea. It faces the chamber formed between the cornea and the iris.
Corneal transplantation, also known as corneal grafting, is a surgical procedure where a damaged or diseased cornea is replaced by donated corneal tissue. When the entire cornea is replaced it is known as penetrating keratoplasty and when only part of the cornea is replaced it is known as lamellar keratoplasty. Keratoplasty simply means surgery to the cornea. The graft is taken from a recently deceased individual with no known diseases or other factors that may affect the chance of survival of the donated tissue or the health of the recipient.
Fuchs dystrophy, also referred to as Fuchs endothelial corneal dystrophy (FECD) and Fuchs endothelial dystrophy (FED), is a slowly progressing corneal dystrophy that usually affects both eyes and is slightly more common in women than in men. Although early signs of Fuchs dystrophy are sometimes seen in people in their 30s and 40s, the disease rarely affects vision until people reach their 50s and 60s.
Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea.
Keratan sulfate (KS), also called keratosulfate, is any of several sulfated glycosaminoglycans that have been found especially in the cornea, cartilage, and bone. It is also synthesized in the central nervous system where it participates both in development and in the glial scar formation following an injury. Keratan sulfates are large, highly hydrated molecules which in joints can act as a cushion to absorb mechanical shock.
The stroma of the cornea is a fibrous, tough, unyielding, perfectly transparent and the thickest layer of the cornea of the eye. It is between Bowman's layer anteriorly, and Descemet's membrane posteriorly.
Iridocorneal endothelial (ICE) syndromes are a spectrum of diseases characterized by slowly progressive abnormalities of the corneal endothelium and features including corneal edema, iris distortion, and secondary angle-closure glaucoma. ICE syndromes are predominantly unilateral and nonhereditary. The condition occurs in predominantly middle-aged women.
Arthur Groenouw was a German ophthalmologist born in Bosatz, a village near Ratibor.
Corneal tattooing is the practice of tattooing the cornea of the human eye. Reasons for this practice include improvement of cosmetic appearance and the improvement of sight. Many different methods and procedures exist today, and there are varying opinions concerning the safety or success of this practice.
Band keratopathy is a corneal disease derived from the appearance of calcium on the central cornea. This is an example of metastatic calcification, which by definition, occurs in the presence of hypercalcemia.
Pellucid marginal degeneration (PMD) is a degenerative corneal condition, often confused with keratoconus. It typically presents with painless vision loss affecting both eyes. Rarely, it may cause acute vision loss with severe pain due to perforation of the cornea. It is typically characterized by a clear, bilateral thinning (ectasia) in the inferior and peripheral region of the cornea, although some cases affect only one eye. The cause of the disease remains unclear.
Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.
Meesmann corneal dystrophy (MECD) is a rare hereditary autosomal dominant disease that is characterized as a type of corneal dystrophy and a keratin disease. MECD is characterized by the formation of microcysts in the outermost layer of the cornea, known as the anterior corneal epithelium. The anterior corneal epithelium also becomes fragile. This usually affects both eyes rather than a single eye and worsens over time. There are two phenotypes, Meesmann corneal dystrophy 1 (MECD1) and Meesmann corneal dystrophy 2 (MECD2), which affect the genes KRT3 and KRT12, respectively. A heterozygous mutation in either of these genes will lead to a single phenotype. Many with Meesmann corneal dystrophy are asymptomatic or experience mild symptoms.
Corneal keratocytes are specialized fibroblasts residing in the stroma. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. In the unperturbed cornea keratocytes stay dormant, coming into action after any kind of injury or inflammation. Some keratocytes underlying the site of injury, even a light one, undergo apoptosis immediately after the injury. Any glitch in the precisely orchestrated process of healing may cloud the cornea, while excessive keratocyte apoptosis may be a part of the pathological process in the degenerative corneal disorders such as keratoconus, and these considerations prompt the ongoing research into the function of these cells.
Lattice corneal dystrophy type is a rare form of corneal dystrophy. It has no systemic manifestations, unlike the other type of the dystrophy, Lattice corneal dystrophy type II. Lattice corneal dystrophy was first described by Swiss ophthalmologist Hugo Biber in 1890.
Mooren's ulcer is a rare idiopathic ocular disorder that may lead to blindness due to progressive destruction of the peripheral cornea. Although the etiology of Mooren's ulcer is poorly understood, recent evidence suggests that the pathogenesis of this disease appears to be the result of an autoimmune process directed against molecules expressed in the corneal stroma.
Pre Descemet's endothelial keratoplasty (PDEK) is a kind of endothelial keratoplasty, where the pre descemet's layer (PDL) along with descemet's membrane (DM) and endothelium is transplanted. Conventionally in a corneal transplantation, doctors use a whole cornea or parts of the five layers of the cornea to perform correction surgeries. In May 2013, Dr Harminder Dua discovered a sixth layer between the stroma and the descemet membrane which was named after him as the Dua's layer. In the PDEK technique, doctors take the innermost two layers of the cornea, along with the Dua's layer and graft it in the patient's eye.
Corneal opacification is a term used when the human cornea loses its transparency. The term corneal opacity is used particularly for the loss of transparency of cornea due to scarring. Transparency of the cornea is dependent on the uniform diameter and the regular spacing and arrangement of the collagen fibrils within the stroma. Alterations in the spacing of collagen fibrils in a variety of conditions including corneal edema, scars, and macular corneal dystrophy is clinically manifested as corneal opacity. The term corneal blindness is commonly used to describe blindness due to corneal opacity.