Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Posterior amorphous corneal dystrophy (PACD) is a rare autosomal-dominant disease, generally classified with the pre-Descemet's dystrophies. It is characterized by deep stromal corneal opacification, flat corneas with low keratometry values, and central thinning. To our knowledge, only one previous ultrastructural study has been published on this disease. This 5-year-old white boy presented with best corrected vision (20/50 right and 20/60 -2 left). The corneas had dense opacities, bilaterally, deep in the corneal stroma. Keratometry was 39.50/40.50, bilaterally. The patient's father had 20/20 vision, bilaterally, with minimal opacifications in the deep corneal stroma. A penetrating keratoplasty was performed. In contrast to the previously reported case of PACD, in which the abnormalities were largely limited to the stroma, our patient had subepithelial deposits, only mild stromal abnormalities, and a thick collagenous layer posterior to Descemet's membrane, thus suggesting that this variant of PACD is a generalized corneal disease including endothelial and epithelial abnormalities, rather than a pure stromal dystrophy.
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PMID:Posterior amorphous corneal dystrophy. An ultrastructural study of a variant with histopathological features of an endothelial dystrophy. 158 20

1. Keratoconus is a bilateral corneal dystrophy that causes a central corneal thinning. The onset is after puberty. 2. Non-surgical treatment of keratoconus is accomplished best with the use of rigid gas permeable contact lenses. 3. Penetrating keratoplasty is the procedure of choice when contact lenses fail.
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PMID:Keratoconus. 279 66

Pathological changes in eyes containing intraocular lenses were studied in the 28 specimens which constitute the collection of eyes with intraocular lenses at Washington University School of Medicine in St Louis. Except for an occasional nest of lymphocytes, local areas of tissue thinning and fibrous reaction where there had been tissue compression, the striking finding in these eyes has been the lack of pathological response. Most of them showed a significant loss of endothelial cells but none had clinical corneal dystrophy.
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PMID:Pathology of eyes with intraocular lenses. 387 28

A scalloped line of tear film thinning (corneal valance), running horizontally across the top third of the cornea, was readily seen with slit lamp, fluorescein, and blue filter in 25 patients. Careful retrospective examination of these patients revealed barely discernible map and fingerprint lines corresponding to the areas of tear film irregularity. A corneascope photograph suggests that the tear film thinning in corneal valance is caused by localized elevations of the epithelial surface. The importance of corneal valance is that it is easily seen, and makes possible the diagnosis of map-dot-fingerprint corneal dystrophy in cases that might otherwise be misdiagnosed or overlooked.
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PMID:Corneal valance: a tear film pattern in map-dot-fingerprint corneal dystrophy. 661 Nov 1

Keratoconus is an ectatic corneal dystrophy associated with stromal thinning and disruption of Bowman's layer. The purpose of this study was to explore a possible association between keratocyte apoptosis and keratoconus. Keratocyte apoptosis was evaluated in corneas of patients with keratoconus, corneas of patients with stromal dystrophies, and normal donor corneas using the transferase-mediated dUTP-digoxigenin nick and labeling (TUNEL) assay. Keratocyte apoptosis was also studied in keratoconus and normal corneas using transmission electron microscopy. TUNEL-stained keratocytes were detected in 60% of corneas with keratoconus, but only 35% of corneas with stromal dystrophies (P =0.03). The number of TUNEL-positive keratocytes detected in the keratoconus, stromal dystrophy, and normal corneas was 7+/-1 (mean+/-standard error, range 0-20), 2+/-0. 8 (range 0-9), and 0+/-0 (range 0-0) TUNEL-positive cells per section, respectively. The differences between the keratoconus and the stromal dystrophy (P =0.0097) or the normal cornea (P =0.01) groups were statistically significant. The difference between the stromal dystrophy and normal cornea groups was not statistically significant (P =0.45). The stromal dystrophy group was included to account for surgery-associated keratocyte apoptosis. No TUNEL-stained keratocytes were detected in normal corneas. Cell morphologic changes consistent with apoptosis were detected by transmission electron microscopy (TEM) in keratocytes of keratoconus corneas, but not in keratocytes in normal corneas. Chronic keratocyte apoptosis associated with ongoing epithelial injury may link risk factors associated with keratoconus such as chronic eye rubbing, contact lens wear, or atopic eye disease. Similarly, increases that have been detected in several different degradative enzymes in keratoconus corneas could be associated with chronic keratocyte apoptosis and less than perfect control of release of intracellular contents.
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PMID:Keratocyte apoptosis associated with keratoconus. 1054 67

In this 21 st century, it is predicted that blindness caused by corneal disorders which are difficult to prevent or treat will increase. It is important to study the pathogenesis, prevention, and treatment of these corneal disorders. Two corneal disorders, keratoconus and corneal dystrophy, were investigated to elucidate the pathogenesis by using molecular biological or molecular genetic techniques. Corneal transplantation is performed to restore vision of patients with corneal disorders, but the condition of the donor corneal endothelium is the key to maintaining transparency of the grafted cornea. We investigated the function or cell cycle mechanism of corneal endothelium at the level of the gene, and we also studied induced genes of endothelial cells during preservation of donor corneas. 1. Keratoconus: We searched for keratoconus patients with questionnaires sent to 141 hospitals in the 23 Wards of Tokyo. The incidence of patients was estimated to be 12.4 x 10(-5) for males and 6.7 x 10(-5) for females. The male/female ratio was 1.7: 1.0. The number of male patients was low when compared with studies reported 17 years ago. Rupture of Descemet's membrane in males was significantly higher than in females. Genesis of incidence: Apoptosis-related gene expression in thinning of the cornea was analyzed with cDNA microarrays, using mRNA isolated from cultured keratocytes of normal human corneas and keratoconus corneas. The expression of tumor necrosis factor alpha-induced protein 6(TNFAIP 6) was more enhanced, while insulin growth factor binding protein 5(IGFBP 5) was less expressed in keratoconus patients. 2. Corneal dystrophy: In corneal dystrophy related to four candidate genes such as transforming growth factor beta-induced(TGFBI) gene, membrane component 1 surface maker 1(M 1 S 1) gene, carbohydrate sulfotransferase gene 6(CHST 6), and collagen type VIII alpha-2(COL8 A 2) gene, 208 Japanese and 42 Vietnamese families were analyzed for the gene mutation and studied for the frequency of gene mutation and differences of clinical features. About 80% of Japanese with corneal dystrophies had mutation of the TGFBI gene and about 70% of them had Avellino corneal dystrophy. However, in Vietnamese patients, mutations were found in both the TGFBI gene (lattice corneal dystrophy; the phenotype gene was His 626 Arg) and in the CHST gene. The difference in frequency in gene mutations was significant between the two nationalities. Moreover, a novel corneal dystrophy associated with Asp 123 His mutation in TGFBI gene was found in one Vietnamese family. 3. Corneal endothelial cell: 1) gene expression: We performed random sequence and homology research analysis of 1,000 clones from a rabbit corneal endothelial cDNA library. Forty-five genes, including collagen type VIII alpha-1, were listed for the frequently observed cDNA in the library. 2) gene transfection: One of the causes of a growth-arrested state in human corneal endothelium was thought to be the presence of transforming growth factor-beta (TGF-beta) in aqueous humor. The transfection of Smad 7 gene, which blocks the signal, showed proliferation of the endothelial cells in the presence of aqueous humor. This suggests that there may be a possible practical application for using gene transfection with a non-viral DNA vector or with an adenovirus vector.
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PMID:[The pathogenesis and treatment of corneal disorders]. 1261 Aug 36

Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder of keratinization of the hair follicle with inflammation and atrophy associated with corneal dystrophy and other symptoms. A family with several affected members is reported. The unaffected parents were related. A 12-year-old girl and her 5-year-old brother had follicular spiny hyperkeratoses on the trunk and extremities. The girl had thinning of the eyelashes and eyebrows as well as scarring alopecia of the scalp as additional features of the disease. Both the girl and her brother had corneal dystrophy and photophobia. Two sisters aged 8 and 10 years did not show similar skin or eye findings.
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PMID:[Keratosis follicularis spinulosa decalvans]. 1755

We report a rare case of keratoconus with granular dystrophy with a follow-up of two decades, documenting the sequential presentation of two diseases confirmed by histology and genetic studies. A 13-year-old boy was diagnosed in 1988 with keratoconus in both eyes (BE) based on slit-lamp biomicroscopy findings of corneal ectasia in BE accompanied by Fleischer's ring, Vogt's striae, a small, old, healed hydrops. The left eye (LE) had central corneal thinning and scar in the central area involving the mid and posterior stroma secondary to healed hydrops. Penetrating keratoplasty (PKP) was advised. The boy was lost to follow-up till 1991 and presented with white, dot-like opacities in the central cornea in the RE only, suggestive of granular corneal dystrophy. Similar findings of white, dot-like opacities were noted in the LE in 1995 and the patient subsequently underwent PKP in BE. Histopathology of corneal buttons confirmed the presence of patchy, crystal-like orange deposits, which stained bright red with Masson's trichrome. Mutational analysis of the TGFBI gene in patient's DNA revealed a heterozygous mutation corresponding to a change in Arg555Trp in the keratoepithelin protein. Granular dystrophy recurred after 8 years in the RE.
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PMID:Late occurrence of granular dystrophy in bilateral keratoconus: penetrating keratoplasty and long-term follow-up. 2183 53

Keratoconus is the most common form of corneal dystrophy. It consists of a non inflammatory progressive thinning process that leads to conical ectasia of the cornea, causing high myopia and astigmatism. In more advanced cases, opacities can be seen at the apex of the cone. Traditional conservative management of keratoconus begins with spectacle correction and contact lenses. Surgery is recommended when a stable contact lens fit fails to provide adequate vision. Keratoplasty was long the only surgical treatment, but recent years have seen the introduction of new surgical options:--Collagen cross-linking stiffens the cornea and can halt disease progression;--Intrastromal corneal rings can reduce astigmatism and improve visual acuity;--Intraocular lenses are valuable additional options for the correction of refractive errors. Currently, keratoplasty is mainly restricted to patients with opacities of the central cornea.
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PMID:[Keratoconus, the most common corneal dystrophy. Can keratoplasty be avoided?]. 2203 7

Keratoconus is a progressive and non-inflammatory thinning of the cornea, which may result in severe visual impairment due to irregular curvature and scarring. It can occur in isolation but is often seen in association with other systemic or ocular disorders. There is a well-recognised genetic component to keratoconus, as evidenced by family and twin studies; however, the aetiology of the disease is complex with both genetic and environmental factors playing a role. Over the last decade significant progress has been made in identifying genetic risk factors for keratoconus. Multiple approaches have been taken including candidate gene studies and genome-wide studies. VSX1 remains as the best characterised keratoconus gene but only accounts for rare cases. Other candidate genes with a role to play include SOD1, other corneal dystrophy genes such as ZEB1 and TGFBI and collagen genes. Family-based studies have recently led to the identification of the MIR184 gene for keratoconus with cataract and to the DOCK9 gene in a family with isolated keratoconus. Numerous other linkages have been reported and new sequencing technologies are set to rapidly expand the number of identified keratoconus genes in these regions. Similarly, recent genome-wide association studies in case-controlled cohorts have identified common variations in and around HGF, RAB3GAP1 and LOX as candidate risk factors for keratoconus. These gene identifications are beginning to reveal the molecular aetiology of keratoconus but despite this recent progress, there remain numerous genetic risk factors to be identified for this relatively common yet complex disease.
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PMID:Insights into keratoconus from a genetic perspective. 2338 89


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