transforming-growth-factor-beta and Eyelid-Diseases

Authors present one of the ocular diabetic complications--diabetic keratoepitheliopathy. The aim of this article is to summarize the knowledge about diabetic keratoepitheliopathy, its causes, manifestations and treatment options. Diabetes mellitus is associated with structural and functional disturbances in eyelids, conjunctiva and cornea. There are also changes in tear film present. Diabetic neuropathy resulting from the biochemical poor control of diabetes is the probable basic cause of the pathology. Mechanisms responsible for these changes are still not well understood. The corneal and conjunctival complications may occur spontaneously. But more often they arise from undue stress of intraocular surgery procedures. The incidence of diabetic keratoepitheliopathy in diabetic patients is high. However, it is rarely diagnosed. Effectiveness of symptomatic treatment with use of common medications is not satisfactory and it needs further investigation.

Topics: Adult; Aged; Causality; Comorbidity; Conjunctival Diseases; Corneal Diseases; Diabetes Complications; Dry Eye Syndromes; Endothelium, Corneal; Extracellular Matrix Proteins; Eyelid Diseases; Humans; Prevalence; Risk Factors; Tears; Transforming Growth Factor beta

To investigate morphological changes in meibomian glands in patients with granular corneal dystrophy type 2 (GCD2) using non-invasive meibography.. Eleven patients (3 men and 8 women) with GCD2, and sex-matched and age-matched healthy volunteers as a controls were enrolled in this study. The diagnosis of GCD2 was confirmed by transforming growth factor β-induced (TGFBI) gene analysis using direct sequencing in exon 4 of TGFBI gene. Meibography was performed in the right eye of the studied cases. Meiboscore was determined according to the morphology of meibomian gland and classified into four grades; grade 0 (no meibomian gland loss), grade 1 (loss less than one-third the total area of meibomian glands), grade 2 (area loss between one-third and two-thirds of the total area), and grade 3 (area loss greater than two-thirds of the total).. R124H mutation was detected in all patients with GCD2. Extinguishing or shortening of the meibomian glands was observed in patients with GCD2. The meiboscore was 3.8±1.3 in patients with GCD2 and 1.3±1.1 in the control group, showing significant difference between two groups (Mann-Whitney U-test, p=0.042).. In GCD2, corneal deposits, and also morphological abnormalities of meibomian glands, such as obstruction or shortening, were found. Since abnormal phospholipid deposition is noted in GCD2, these results are interesting because phospholipid is possibly secreted from the meibomian gland.

Topics: Aged; Corneal Dystrophies, Hereditary; Exons; Extracellular Matrix Proteins; Eyelid Diseases; Female; Humans; Male; Meibomian Glands; Middle Aged; Polymorphism, Single Nucleotide; Radiography; Transforming Growth Factor beta

To report a case of stellate and branching linear corneal stromal amyloid deposits secondary to trichiasis and the use of molecular genetic analysis to exclude lattice corneal dystrophy.. Case report and review of the literature. A 30-year-old man with a history of chronic ocular irritation was found to have distichiasis, epiblepharon, and unilateral corneal amyloidosis indistinguishable from lattice corneal dystrophy. Screening of the TGFBI gene was performed to rule out a previously reported mutation associated with lattice corneal dystrophy.. A corneal biopsy performed before presentation to the authors confirmed the presence of corneal amyloidosis. Screening of exons 4, 11, 12, and 14 in the TGFBI gene identified 2 previously reported polymorphisms, Leu472Leu and Phe540Phe, but no other coding region changes.. Corneal stromal amyloidosis clinically resembling lattice corneal dystrophy may be associated with trichiasis. The exclusion of a TGFBI-associated corneal dystrophy in this case, leaving trichiasis as the most likely cause of the corneal amyloid deposition, demonstrates the utility of molecular genetic analysis in confirming or refuting a presumptive clinical diagnosis.

Topics: Adult; Amyloidosis; Corneal Diseases; Corneal Stroma; Exons; Extracellular Matrix Proteins; Eyelashes; Eyelid Diseases; Hair Diseases; Humans; Male; Polymorphism, Single Nucleotide; Transforming Growth Factor beta