Disease-Causing Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the reported pathogenic variants. Two probands with Sorsby fundus dystrophy and three first-degree relatives underwent ocular examination and retinal imaging, including optical coherence tomography angiography. The DNA of the first proband was screened using a targeted ocular gene panel, while, in the second proband, direct sequencing of the coding region was performed.

A simple surgical solution for the treatment of persistent postoperative hypotony after PRESERFLO MicroShunt implantation.

Background/objectives: PRESERFLO MicroShunt implantation is a relatively new and increasingly popular treatment for recalcitrant glaucoma. Though relatively uncommon, persistent or severe postoperative hypotony may occur and its treatment presents a significant challenge.

Subjects/methods: Interventional case series of the first 7 consecutive patients who underwent the insertion of a rip-cord suture to treat severe or persistent postoperative hypotony.

RNA-based therapies in inherited retinal diseases.

Inherited retinal diseases (IRDs) are a genetically and phenotypically heterogeneous group of genetic eye disorders. There are more than 300 disease entities, and together this group of disorders affects millions of people globally and is a frequent cause of blindness or low-vision certification. However, each type is rare or ultra-rare.

Effect of a complex intervention to improve post-vision screening referral compliance among pre-school children in China: A cluster randomized clinical trial.

Background: We investigated whether specific appointments for quality-assured care could increase referral uptake, often low in China, in children's vision screening.

Methods: We randomized children aged 4-7 years in Yudu, Jiangxi, China, by school to Control (free school-based eye screening, parents of children failing screening recommended for further examination [usual practice]) or Intervention (identical examinations, with parents additionally provided with specific appointments for further examinations by quality-assured doctors at a designated local hospital). Both groups could select any hospital for referral exams, which were not free.

Prediction of myopia development among Chinese school-aged children using refraction data from electronic medical records: A retrospective, multicentre machine learning study.

Background: Electronic medical records provide large-scale real-world clinical data for use in developing clinical decision systems. However, sophisticated methodology and analytical skills are required to handle the large-scale datasets necessary for the optimisation of prediction accuracy. Myopia is a common cause of vision loss.

Longitudinal changes of angle configuration in primary angle-closure suspects: the Zhongshan Angle-Closure Prevention Trial.

Objective: To determine longitudinal changes in angle configuration in the eyes of primary angle-closure suspects (PACS) treated by laser peripheral iridotomy (LPI) and in untreated fellow eyes.

Design: Longitudinal cohort study.

Participants: Primary angle-closure suspects aged 50 to 70 years were enrolled in a randomized, controlled clinical trial.

Associations between narrow angle and adult anthropometry: the Liwan Eye Study.

Purpose: To assess the associations between narrow angle and adult anthropometry.

Methods: Chinese adults aged 50 years and older were recruited from a population-based survey in the Liwan District of Guangzhou, China. Narrow angle was defined as the posterior trabecular meshwork not visible under static gonioscopy in at least three quadrants (i.

Intraocular pressure, central corneal thickness, and glaucoma in chinese adults: the liwan eye study.

Purpose: To describe the distribution of central corneal thickness (CCT), intraocular pressure (IOP), and their determinants and association with glaucoma in Chinese adults.

Design: Population-based cross-sectional study.

Methods: Chinese adults aged 50 years and older were identified using cluster random sampling in Liwan District, Guangzhou.

Current and future prospects for the prevention of ocular fibrosis.

Significant advances have been made in developing new treatments and refining existing treatments for the prevention of scarring after disease, trauma, or surgical prevention. The advent of new technologies in addition to traditional chemical drugs such as dendrimers, antibodies, aptamers, ribozymes, gene therapy with viral vectors, and RNA interference, opens the door to a whole new generation of therapies to prevent fibrosis in the eye. The ability to control fibrotic processes in the eye offers many tantalizing prospects, including prevention of corneal blindness from scarring to "20/5 vision" with perfect corneal wound healing after wavefront refractive surgery prevention of PCO to fully accommodative lens implants, 100% success of glaucoma surgery with pressure at approximately 10 mmHg associated with < 5% progression over a decade, to no failure of retinal detachment surgery and minimal visual loss from AMD.

Matrix metalloproteinase-1 associates with intracellular organelles and confers resistance to lamin A/C degradation during apoptosis.

Since the first description of matrix metalloproteinase (MMP)-1 as an interstitial collagenase, great importance has been ascribed to this enzyme in extracellular matrix remodeling during tumoral, inflammatory, and angiogenic processes. As more evidence for the role of MMPs in targeting nonmatrix substrates emerges, casual observations that intracellular MMP-1 is found in vitro and in vivo prompt investigation of the role that MMP-1 may play on basic cell functions such as cell division and apoptosis. Here we show for the first time that MMP-1 not only has extracellular functions but that it is strongly associated with mitochondria and nuclei and accumulates within the cells during the mitotic phase of the cell cycle.

IFN-gamma gene expression is controlled by the architectural transcription factor HMGA1.

We report for the first time that IFNG gene expression requires high mobility group (HMG)A1, the architectural transcription factor mediating enhanceosome formation. This finding is supported by our direct studies of T cells isolated from the HMGA1-transgenic mice displaying an up-regulation of IFN-gamma production and of HMGA1-deficient mice exhibited a decreased IFN-gamma induction. In parallel transfection studies in EL4 cells, we observed elevated IFNG gene promoter activity in cells stably over-expressing HMGA1 and a reduction of such activity in cells expressing dominant-negative HMGA1.

Correction of refractive error in the adult population of Bangladesh: meeting the unmet need.

Purpose: To assess the extent of uncorrected refractive error and associated factors in Bangladesh and to suggest ways in which this need can be met.

Methods: A nationally representative sample of 12,782 adults (>/= 30 years of age) was selected. Of them, 11,624 subjects underwent a demographic interview, visual acuity (logarithm of the minimum angle of resolution [logMAR]) measurement, automated refraction, and optic disc examination.

Age-related nuclear lens opacities are associated with reduced growth before 1 year of age.

Purpose: The aim of this study was to assess the relationship between fetal and infant growth, as measured by birthweight and weight at 1 year and the development of age-related lens opacities.

Methods: A total of 1428 men and women who were born in Hertfordshire, United Kingdom, between 1920 and 1930, and for whom records of birthweight and weight at 1 year were available, were traced and invited for examination. Of these, 717 (50%) attended for ophthalmic examination.