Clinical Findings and Treatments of Granular Corneal Dystrophy Type 2 (Avellino Corneal Dystrophy): A Review of the Literature
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To review the literature about clinical findings and treatments of granular corneal dystrophy type 2 (GCD2).Various literatures on clinical findings, exacerbations after refractive corneal surgery, and treatment modalities of GCD2 were reviewed.GCD2 is an autosomal dominant disease. Mutation of transforming growth factor beta-induced gene, TGFBI, or keratoepithelin gene in human chromosome 5 (5q31) is the key pathogenic process in patient with GCD2. Corneal trauma activates TGFBI and then it overproduces transforming growth factor beta-induced gene protein (TGFBIp), which is main component of the corneal opacity. Refractive corneal surgery is a popular procedure to correct refractive error worldwide. However, several cases about exacerbation of GCD2 after corneal refractive surgery such as photorefractive keratectomy, laser in situ keratomileusis, and laser epithelial keratomileusis have been reported. The opacities deteriorate patient's best-corrected visual acuity. Recurrence-free interval varies many factors such as the type of procedure the patient had received and the genotype of the patient. To treat the opacities in GCD2, phototherapeutic keratectomy, lamellar keratoplasty, deep lamellar keratoplasty, and penetrating keratoplasty (PKP) were used. However, the recurrence is still an unsolved problem.Perfect treatment of exacerbation after corneal surface ablation does not exist until now. To prevent exacerbation, refractive surgeons must do a careful preoperative examination of candidates in refractive surgeries.Keywords:
Corneal dystrophy
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BACKGROUND: Granular corneal dystrophy is the commonest of the dystrophies and usually results in visual disability in the fourth or fifth decades. CASE HISTORY: A patient with granular corneal dystrophy is reported and the clinical characteristics described. DISCUSSION: The classical clinical features and the pathology and management of granular dystrophy are reviewed. Two unusual variations of the corneal dystrophy, namely, juvenile granular dystrophy and Avellino dystrophy, which is a concurrence of the features of granular and lattice dystrophies, are also described.
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• Corneas from patients in two separate pedigrees showing dominant inheritance of a congenital nonprogressive corneal clouding were examined by light and electron microscopy. The characteristic changes of abnormal corneal lamellae were widely and rather uniformly distributed throughout the stroma. The remaining corneal layers were normal. The findings are consistent with a diagnosis of congenital hereditary stromal dystrophy of the cornea, which differs greatly on both histologic and clinical grounds from the entity known as congenital hereditary endothelial dystrophy of the cornea.
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Introduction: The term Corneal Dystrophy refers to a rare heterogeneous group of genetically determined, bilateral, symmetric, primary diseases, restricted to cornea and not associated with previous ocular inflammation. The dystrophies are classified based on the layer of cornea involved, into superficial, stromal and posterior dystrophies, each of which is genetically determined. Though the clinical features are often characteristic, definitive diagnosis is possible only after histological examination. The management protocols and visual prognosis vary with the underlying conditions. The incidence of the subtypes varies with the geographic locations. Objective: To study the prevalence of various subtypes of Corneal Dystrophies in corneal button specimens obtained after penetrating keratoplasty in a referral ophthalmic institute and to correlate with the patient’s age and sex. Materials and Methods: Corneal button specimens received in the ocular pathology laboratory over a period of five years were reviewed. Histopathological features of Corneal Dystrophies were studied and subcategorised. Cliniopathological analysis was made. Results: Out of 660 corneal biopsies reviewed, 42 cases were of corneal dystrophy. The patients were between 2 and 71 years of age, with 14 males and 28 females. Macular dystrophy was the most common with 20 cases, followed by Congenital Hereditary Endothelial Dystrophy (CHED) and Fuch’s endothelial dystrophy (FECD), with 7 cases each. Epithelial basement membrane dystrophy, Reis Buckler Dystrophy (RBCD), Granular dystrophy were the other types. Conclusion: Histopathological sub categorisation of various types of Corneal Dystrophies not only helps in understanding the prevalence, but also in predicting the genetic link and prognosis of the disease category. Keywords: Cornea, CHED, Dystrophy, Fuch, Macular.
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Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
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The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.
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Abstract This paper maintains that Reis‐Bücklers' corneal dystrophy and granular corneal dystrophy Groenouw type I are one and the same disease. Included are some of the technically best photographs of Reis‐Bücklers' dystrophy found in the literature, and these are compared with photographs from patients with granular corneal dystrophy examined by the author. It is argued that most of the histological and ultrastructural findings on Reis Bücklers' dystrophy described in the literature are either congruent with what is found in granular corneal dystrophy or unspecific.
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To determine the frequency and describe the histopathologic features of stromal corneal dystrophies over a 10-year period.A single-centered, retrospective analysis was performed on corneal specimens diagnosed as stromal dystrophies retrieved from the Henry C. Witelson Ophthalmic Pathology Laboratory and Registry (Montreal, Canada) over a period of 10 years. Corneal specimens obtained during keratoplasty were subjected to hematoxylin and eosin, periodic acid-Schiff, and other special staining.During the period of the study, 885 corneal specimens from penetrating keratoplasties were received. Twenty-six (2.9%) specimens from a total of 22 patients showed stromal corneal dystrophies: 17 (65.4%) eyes with lattice dystrophy, 5 (19.2%) eyes with combined granular/lattice ("Avellino") dystrophy, 3 (11.5%) eyes with granular dystrophy, and 1 (3.9%) eye with macular dystrophy.Corneal stromal dystrophies have distinct histopathologic features, which can be diagnosed with routine and special staining, particularly for combined granular/lattice (Avellino) dystrophy. Clinically, combined granular/lattice (Avellino) dystrophy can have features of both lattice and granular dystrophies, which can be misleading for diagnosis. Lattice dystrophy was the most frequent stromal dystrophy in this particular population.
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In 1988, a report was published describing the histopathologic examination of corneal buttons of 4 patients who had undergone unilateral keratoplasty because of decreased vision caused by what had been diagnosed clinically as granular dystrophy. But on pathologic examination, lesions characteristic of both granular dystrophy and lattice dystrophy were found in each of the 4 corneal buttons. The patients came from 3 different families, each of which traced its origin to the Italian province of Avellino. We studied the clinical and histopathological features of 4 corneas affected by combined granular-lattice dystrophy, adding thereby to the total of 12 other corneas that have been so-described in the literature.Two women underwent bilateral penetrating keratoplasty for what was diagnosed clinically as Reis-Bücklers dystrophy in the first patient, and as granular dystrophy in the second patient. We studied all 4 corneas pathologically, using both conventional hematoxylin and eosin stains as well as special histochemical techniques.All 4 corneas contained lesions characteristic of both granular dystrophy and lattice dystrophy, a circumstance that has given rise to the name "combined granular-lattice dystrophy." The patients are not known to be of Italian ancestry.Three clinical signs characterize combined granular-lattice dystrophy: (1) anterior stromal discrete, grayish-white deposits; (2) lattice lesions located in mid-stroma to posterior stroma; and (3) anterior stromal haze. Both clinically and histopathologically, the lattice lesions are of greater diameter than are those that occur in lattice dystrophy type I. In the past few years, striking advances have been made in understanding the genetics of combined granular-lattice dystrophy. The most recent of these was published just 2 months before the 1997 meeting of the American Ophthalmological Society, and establishes a common molecular origin for granular dystrophy, lattice dystrophy type I, Avellino dystrophy, and Reis-Bücklers dystrophy.
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