Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Background: Impaired mitochondrial protein import machinery leads to phenotypically heterogeneous diseases. Here, we report a recurrent homozygous missense variant in the gene that encodes the translocase of outer mitochondrial membrane 7 (TOMM7) in nine patients with microcephaly, short stature, facial dysmorphia, atrophic macular scarring, and moyamoya disease from seven unrelated families.

Methods: To prove the causality of the TOMM7 variant, mitochondrial morphology, proteomics, and respiration were investigated in CRISPR/Cas9-edited iPSCs-derived endothelial cells.

Cytochrome P450 monooxygenase of Acanthamoeba castellanii participates in resistance to polyhexamethylene biguanide treatment.

Acanthamoeba spp. are free-living parasites that can cause severe infections such as granulomatous amoebic encephalitis (GAE) and amoebic keratitis (AK). Polyhexamethylene biguanide (PHMB) is a topical application for AK treatment.

Ocular characteristics in a variant microcephalic primordial dwarfism type II.

Background: Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation. Clinical manifestations have been reported in pediatrics and neurology; however, only a few ocular findings have been documented.

Case Presentation: We present three unrelated cases of MOPD II with similar facial features and short stature.

Identification and characterization of a secreted M28 aminopeptidase protein in Acanthamoeba.

Acanthamoeba is a free-living pathogenic protozoan that is distributed in different environmental reservoirs, including lakes and soil. Pathogenic Acanthamoeba can cause severe human diseases, such as blinding keratitis and granulomatous encephalitis. Therefore, it is important to understand the pathogenic relationship between humans and Acanthamoeba.

Author Correction: Major ocular trauma in Taiwan: 2002-2004 versus 2012-2014.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.

Major ocular trauma in Taiwan: 2002-2004 versus 2012-2014.

We investigated the temporal changes in major eye injuries in Taiwan by reviewing the medical records of all patients with ocular trauma hospitalized at the National Cheng Kung University Hospital during 2002-2004 and 2012-2014. A total of 169 eyes (161 patients) during 2002-2004 and 121 eyes (120 patients) during 2012-2014 were enrolled (mean ± SD age: 41.9 ± 20.

The effect of the disulfideisomerase domain containing protein in the defense against polyhexamethylene biguanide of highly tolerant Acanthamoeba at the trophozoite stage.

Acanthamoeba castellanii is a free-living protozoan pathogen capable of causing a blinding keratitis and fatal granulomatous encephalitis. Current treatment generally involves an hourly application of polyhexamethylene biguanide (PHMB) over a period of several days but this is not entirely effective against all strains/isolates. The tolerance mechanisms of PHMB in Acanthamoeba cells remain unclear.

Comparative proteomic analysis of extracellular secreted proteins expressed by two pathogenic Acanthamoeba castellanii clinical isolates and a non-pathogenic ATCC strain.

Acanthamoeba keratitis (AK) is a serious ocular disease caused by pathogenic Acanthamoeba gaining entry through wounds in the corneal injury; generally, patients at risk for contracting AK wear contact lenses, usually over a long period of time. Moreover, pathogenic Acanthamoeba causes serious consequences: it makes the cornea turbid and difficult to operate on, including procedures such as enucleation of the eyeball. At present, diagnosis of this disease is not straightforward, and treatment is very demanding.

Spontaneous suprachoroidal hemorrhage: Case report and review of the literature.

We present the clinical course, management, and final outcome of spontaneous suprachoroidal hemorrhage (SSCH) in an age-related macular degeneration (AMD) patient-a 64-year-old male receiving antiplatelet therapy who developed SSCH during the Valsalva maneuver. In addition to our case study, we discuss the results of a systemic review of the literature and reference lists of retrieved studies published from January 2001 to December 2013. Among a total of 31 patients (32 eyes), acute secondary glaucoma was a complication in 87.

Characterizing clinical isolates of Acanthamoeba castellanii with high resistance to polyhexamethylene biguanide in Taiwan.

Background/purpose: Acanthamoeba keratitis (AK), a painful infectious corneal disease, is caused by the free-living pathogenic species Acanthamoeba. The symptoms include corneal infiltrate, epithelial, and stromal destruction, and loss of vision. Current treatment generally involves an hourly application of polyhexamethylene biguanide (PHMB) over a period of several days; however, even this is not entirely effective against all strains/isolates.

Refractive Changes in Amblyopic Children with High Anisometropia.

Purpose: To demonstrate the refractive changes of amblyopic children attributed to high anisometropia in the myopia endemic in Taiwan.

Methods: Amblyopic children younger than 10 years with myopic or hyperopic anisometropia 3 diopters (D) or more who had follow-up for more than 2 years and had final visual acuity of 20/30 or better in the amblyopic eye were included.

Results: The average age on the first visit was similar for the 13 myopic children (5.

A cluster of endophthalmitis caused by Mycobacterium abscessus after cataract surgery.

We report two cases of postoperative endophthalmitis after cataract surgery caused by the same strain of Mycobacterium abscessus confirmed by arbitrarily primed polymerase chain reaction, sequencing of the erythromycin ribosome methyltransferase gene and pulsed-field gel electrophoresis. The outcomes were poor despite aggressive treatments. This is the first report of nontuberculous mycobacteria as a causative pathogen for a cluster of endophthalmitis.

Repetitive methylene blue-mediated photoantimicrobial chemotherapy changes the susceptibility and expression of the outer membrane proteins of Pseudomonas aeruginosa.

Background: Since bacterial multidrug efflux pumps mediate intracellular photosensitizer methylene blue, a change in the expression alters the susceptibility to photoantimicrobial chemotherapy (PACT) of Pseudomonas aeruginosa, which may occur following repetitive sublethal challenges.

Materials And Methods: We performed 10 consecutive, methylene blue-mediated PACT on one antibiotic-sensitive strain and three antibiotic-resistant strains of P. aeruginosa.

Retinopathy of prematurity in southern Taiwan: a 10-year tertiary medical center study.

Background/purpose: Retinopathy of prematurity (ROP) is a leading cause of childhood blindness. This retrospective study investigated ROP, including incidence, demographic information,risk factors, treatments, and refractive outcomes, in southern Taiwan over a 10-year period.

Methods: The authors retrieved the National Cheng Kung University Hospital database between the years 2000 and 2009 for newborns with a gestational age less than 32 weeks and/or with a birth weight less than 1500 g who had been screened for ROP.

A preequatorial Gore-Tex sling to restore rectus muscle pathways in myopic strabismus fixus.

A 74-year-old woman with high myopia presented with a rapid-onset, large-angle esotropia consistent with myopic strabismus fixus, or fallen eye syndrome. We treated the patient with combined bilateral disinsertion of the medial rectus muscles and resection of the right lateral rectus muscle with bilateral repositioning of the displaced superior and lateral rectus muscles toward their normal anatomic positions using a polytetrafluoroethylene (Gore-Tex) sling. The eyes were held in the orthotropic position for 7 days after surgery using nylon traction sutures.

Treatment of early Acanthamoeba keratitis with alcohol-assisted epithelial debridement.

Purpose: To study the safety and efficacy of treating early-stage Acanthamoeba keratitis (AK) with 20% alcohol-assisted epithelial debridement.

Methods: Four consecutive patients (2 wearing orthokeratology lenses and 2 wearing soft contact lenses) presented with pseudodendrites, radial keratoneuritis, and epithelial irregularities. Using a technique similar to laser-assisted subepithelial keratomileusis, we performed alcohol-assisted full-thickness debridement of the corneal epithelium and sent portions for smears, histopathologic and ultrastructural examinations, and culture for evidence of Acanthamoeba.

Effects of photodynamic therapy on rapidly growing nontuberculous mycobacteria keratitis.

Purpose: The authors investigated the antimicrobial effect of methylene blue (MB)-mediated photodynamic therapy (PDT) on Mycobacterium fortuitum keratitis.

Methods: In the in vitro study, the mycobacterial suspension and colonies were treated with the following: no MB, no light (normal control); MB and no light (dye control); light and no MB (light control); MB and light (PDT). Morphologic characteristics were examined by transmission electron microscopy.

Paederus-induced keratitis.

Purpose: To report the clinical picture and management of 4 cases of presumed paederus-induced keratitis.

Methods: The clinical characteristics of the anterior segment and periocular area were presented. The outcomes and healing course of the corneal lesions were recorded.

Major pediatric ocular trauma in Taiwan.

Purpose: To investigate major pediatric ocular trauma in Taiwan.

Methods: Retrospective review of medical records of all patients 15 years and younger who were hospitalized with a primary diagnosis of eye injury at National Cheng Kung University Hospital, Taiwan, between June 1988 and May 2006.

Results: There were 156 children (156 eyes) 1.

Astigmatism in children with epiblepharon.

Purpose: To study the relationship between astigmatism and epiblepharon in Taiwanese children that need surgical correction.

Methods: In a retrospective case-control study, a total of 254 eyes in 134 children surgically treated for lower-lid epiblepharon were studied. A further 205 eyes in 104 children 4-7 years of age were included as controls.

Ophthalmologic abnormalities in high school students with mental retardation in Taiwan.

Background And Purpose: Visual and ocular disorders are common in mental retardation (MR), and can influence sensory-motor development and learning. This study investigated visual and ocular abnormalities in a population of high school students with MR.

Methods: All students with MR in their first year at a special education high school who underwent ophthalmic examinations in December 2001 were included.

Tear function changes during interferon and ribavirin treatment in patients with chronic hepatitis C.

Purpose: To evaluate symptoms and changes in tear function and the ocular surface with interferon and ribavirin therapy for chronic hepatitis C.

Methods: Nineteen patients with chronic hepatitis C undergoing a course of interferon alfa-2b/ribavirin therapy and 19 age- and sex-matched controls participated in this prospective study. Patients were evaluated for dry eye subjectively (15-symptom assessment questionnaire) and objectively, including ophthalmologic examination, Schirmer test, tear clearance rate (TCR), tear function index (TFI), and nucleus/cytoplasm (N/C) ratio of conjunctival epithelial cell by impression cytology.

Effect of artificial tears on corneal surface regularity, contrast sensitivity, and glare disability in dry eyes.

Objective: To investigate the effects of artificial tears on corneal surface regularity and visual function in dry eyes.

Design: Nonrandomized, comparative trial.

Participants: Forty patients (40 eyes) with dry eyes with (group 1, n = 15 eyes) or without (group 2, n = 25 eyes) punctate epithelial keratopathy and a normal control group of 20 individuals (20 eyes) with no ocular abnormalities (group 3).