Heterozygous mutations in the UBIAD1 gene cause Schnyder corneal dystrophy characterized by abnormal cholesterol and phospholipid deposits in the cornea. Ubiad1 protein was recently identified as Golgi prenyltransferase responsible for biosynthesis of vitamin K2 and CoQ10, a key protein in the mitochondrial electron transport chain. Our study shows that silencing UBIAD1 in cultured human hepato...

PURPOSE To visualize structural alterations of the cornea, iris, and lens in patients with exfoliation syndrome (XFS) using a noncontact in vivo laser scanning confocal microscope and to correlate these with the clinical features. METHODS The cornea, iris, and lens of 30 eyes with XFS were imaged using the Rostock Cornea Module of Heidelberg Retina Tomograph II (50x noncontact Nikon lens, an ...

PURPOSE To investigate the phenotype and predisposing factors of a granular corneal dystrophy type 2 transgenic mouse model. METHODS Human TGFBI cDNA with R124H mutation was used to make a transgenic mouse expressing human protein (TGFBIR124H mouse). Reverse transcription PCR (RT-PCR) was performed to analyze TGFBIR124H expression. A total of 226 mice including 23 homozygotes, 106 heterozygot...

PURPOSE To report a rare case of keratitis infected by Bipolaris hawaiiensis. METHODS A patient who was diagnosed as fungal keratitis caused by B. hawaiiensis was retrospectively reviewed for history, clinical characteristics, risk factors, laboratory findings, treatments, and outcomes. RESULTS A 63-year-old man with a history of trauma and saw dust in the left eye presented with a corneal ...

normal 0 false false false en-us x-none ar-sa background : the aim of this study was to determine the correlation between corneal hysteresis (ch) and the corneal resistance factor (crf), which are both novel methods of analyzing ocular rigidity/elasticity, and various corneal characteristics, mainly corneal volume in normal subjects. methods : this cross-sectional study included 500 normal eyes...

Corneal endothelium is formed of 1 layer of mitochondria-rich cubic cells whose main role is to maintain corneal transparency. Corneal endothelial disorders represent group of both inherited and noninherited and may affect proper vision.A 36-year-old male patient with suspicion of corneal endothelial dystrophy underwent visual acuity, intraocular pressure, the basic slit-lamp examination, anter...

PURPOSE To evaluate the safety and efficacy of a new multipurpose disinfecting solution (MPDS) with a formulation that includes aloe vera on its composition. METHODS This is a prospective, randomized, double-masked clinical trial with a crossover design that included seven examinations. Two different MPDSs, Avizor Alvera® (study solution) and All Clean Soft® (control solution), each were used...

To the Editor: The corneal deposits seen in heterozygote granular corneal dystrophy type 2 (GCD2) can be observed in individuals with variable appearances.1 When the deposits are small and at times undetectable, only genetic analysis is effective for the confirmative diagnosis. Many refractive surgeons have adopted genetic testing prior to refractive surgery to verify that their patients are fr...

PURPOSE To investigate the location and tissue-specificity of the pathologic keratoepithelin (KE) deposition in a patient with a keratoepithelinopathy (KEP), TGFBI/BIGH3-related corneal dystrophy. METHODS An autopsy was performed in a patient with lattice type I corneal dystrophy (LCDI) after authorization was obtained from the family. Mutation screening in TGFBI/BIGH3 was done on the patient...