A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa.

Most X-linked diseases show a recessive pattern of inheritance in which female carriers are unaffected. In X-linked retinitis pigmentosa (XLRP), however, both recessive and semi-dominant inheritance patterns have been reported. We identified an Israeli family with semi-dominant XLRP due to a missense mutation (p.

Progenitor cells and retinal angiogenesis.

Nothing more dramatically captures the imagination of the visually impaired patient or the ophthalmologist treating them than the possibility of rebuilding a damaged retina or vasculature with "stem cells." Stem cells (SC) have been isolated from adult tissues and represent a pool of cells that may serve to facilitate rescue/repair of damaged tissue following injury or stress. We propose a new paradigm to "mature" otherwise immature neovasculature or, better yet, stabilize existing vasculature to hypoxic damage.

Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

Objective: To identify USH2A mutations in Israeli patients with autosomal-recessive Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP).

Methods: Patients from 95 families with RP and 4 with USH2 were clinically evaluated. USH2A exons 2-72 were scanned for mutations using single-strand conformation and sequencing analyses.

Lack of benefit of early awareness to age-related macular degeneration.

Aims: To assess the rate of early awareness to the presence of age-related macular degeneration (AMD) and whether it enables early detection of transition to neovascular AMD (NVAMD) as compared with patients whose first presentation to an ophthalmologist is already at the neovascular stage of disease.

Methods: A retrospective analysis of 268 eyes of 268 consecutive patients with newly diagnosed NVAMD that were treated in a tertiary referral centre was performed. Patients were classified into those who were unaware (Group 1), or aware (Group 2), of the fact that they had AMD before diagnosis of NVAMD.

Myeloid progenitors differentiate into microglia and promote vascular repair in a model of ischemic retinopathy.

Vision loss associated with ischemic diseases such as retinopathy of prematurity and diabetic retinopathy are often due to retinal neovascularization. While significant progress has been made in the development of compounds useful for the treatment of abnormal vascular permeability and proliferation, such therapies do not address the underlying hypoxia that stimulates the observed vascular growth. Using a model of oxygen-induced retinopathy, we demonstrate that a population of adult BM-derived myeloid progenitor cells migrated to avascular regions of the retina, differentiated into microglia, and facilitated normalization of the vasculature.

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure. In order to identify novel BBS loci we undertook autozygosity mapping studies using high-density SNP microarrays in consanguineous kindreds. We mapped a BBS locus to a 10.

Application of the standard photodynamic treatment protocol for symptomatic circumscribed choroidal hemangioma.

Purpose: To describe the results of photodynamic therapy (PDT) using a standard protocol, developed for treating choroidal neovascularization (CNV), for the treatment of circumscribed choroidal hemangioma (CCH).

Methods: A prospective, uncontrolled, consecutive case series of patients with symptomatic CCH that were treated using the standard PDT protocol was evaluated periodically with ophthalmic exams and echography.

Results: Nine CCH patients were included in the study.

T2-TrpRS inhibits preretinal neovascularization and enhances physiological vascular regrowth in OIR as assessed by a new method of quantification.

Purpose: A carboxyl-terminal fragment of tryptophan tRNA synthetase (T2-TrpRS) has demonstrated potent angiostatic activity during retinal developmental neovascularization in vivo. The effects of T2-TrpRS on pathologic neovascularization were tested and compared with a potent VEGF antagonist using the mouse model of oxygen-induced retinopathy (OIR).

Methods: C57BL/6J mice were transiently exposed to hyperoxic conditions (75% O2) between postnatal day 7 (P7) and P12 and then returned to room air.

Chelator-induced dispersal and killing of Pseudomonas aeruginosa cells in a biofilm.

Biofilms consist of groups of bacteria attached to surfaces and encased in a hydrated polymeric matrix. Bacteria in biofilms are more resistant to the immune system and to antibiotics than their free-living planktonic counterparts. Thus, biofilm-related infections are persistent and often show recurrent symptoms.

Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.

Background: Sjögren-Larsson syndrome (SLS) is an early childhood-onset disorder with ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy caused by the deficiency of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene (the gene that encodes microsomal fatty aldehyde dehydrogenase). Cerebral proton magnetic resonance spectroscopy in those with SLS demonstrates an abnormal white matter peak at 1.3 ppm, consistent with long-chain fatty alcohol accumulation.

Three-dimensional in vivo imaging of the mouse intraocular vasculature during development and disease.

Purpose: Aberrant growth of blood vessels in the eye is a major cause of vision loss, occurring as a complication of diabetic retinopathy, age-related macular degeneration, and retinal vascular occlusions, among others. Whereas in humans, in vivo angiography is routinely used to image such diseases, many animal models of ocular vascular disease and development rely on dissected tissues that may not accurately represent in vivo conditions and require enucleation of the eye, the death of the animal, or both.

Methods: A method of three-dimensional imaging of blood vessels was used in the living mouse eye that involved scanning laser confocal microscopy and computer-aided image reconstruction.

Retinal incorporation and differentiation of neural precursors derived from human embryonic stem cells.

Retinal and macular degenerations are a major cause of blindness. Cell transplantation is a possible therapeutic approach for the replacement of degenerating retinal cells. Here, we studied the potential of human embryonic stem cells (hESCs) to survive, integrate, and differentiate into retinal cells after intraocular transplantation.

Iron and Pseudomonas aeruginosa biofilm formation.

Iron serves as a signal in Pseudomonas aeruginosa biofilm development. We examined the influence of mutations in known and putative iron acquisition-signaling genes on biofilm morphology. In iron-sufficient medium, mutants that cannot obtain iron through the high-affinity pyoverdine iron acquisition system form thin biofilms similar to those formed by the parent under low iron conditions.

Does postmenopausal hormone replacement therapy affect intraocular pressure?

Purpose: To assess the effects of postmenopausal hormone replacement therapy (HRT) on intraocular pressure (IOP).

Patients And Methods: This was a cross-sectional controlled study, including 107 women aged 60 to 80 years receiving HRT and 107 controls who have never received HRT. All subjects underwent IOP assessment and funduscopic photography for cup-to-disc (C/D) ratios, and completed questionnaires regarding personal and family history of glaucoma, hormone replacement therapy, lifetime estrogen and progesterone exposure, and cardiovascular risk factors.

Treatment of ocular tissues exposed to nitrogen mustard: beneficial effect of zinc desferrioxamine combined with steroids.

Purpose: Exposure of the ocular surface to mustard gas chemical warfare leads to a destructive inflammatory reaction. Both steroids and a novel metalocomplex free radical scavenger, zinc desferrioxamine (Zn/DFO), have been shown to be effective separately in reducing ocular damage. The purpose of the present study was to investigate whether the effectiveness of both medications applied simultaneously is superior to the effectiveness of either one applied alone.

Rescue of retinal degeneration by intravitreally injected adult bone marrow-derived lineage-negative hematopoietic stem cells.

Inherited retinal degenerations afflict 1 in 3,500 individuals and are a heterogeneous group of diseases that result in profound vision loss, usually the result of retinal neuronal apoptosis. Atrophic changes in the retinal vasculature are also observed in many of these degenerations. While it is thought that this atrophy is secondary to diminished metabolic demand in the face of retinal degeneration, the precise relationship between the retinal neuronal and vascular degeneration is not clear.

Susac syndrome.

Objective: The objective of this study was to describe the clinical manifestations; radiographic, audiometric, and retinal fluorescein angiography findings; pathogenesis and treatment of Susac syndrome with review of the literature.

Study Design: We conducted a retrospective case review.

Setting: This study was conducted at a tertiary referral center.

[Experimental therapeutic modalities for retinitis pigmentosa].

Retinitis Pigmentosa (RP) is a heterogeneous group of inherited diseases that cause retinal degeneration, often leading to blindness. Over the last decade, significant insights have been obtained into the mechanisms underlying retinal degeneration in RP. This improved understanding of the pathogenesis of RP, combined with advances in molecular and cellular biology methods as well as electro-optical technologies, have contributed to renewed interest and increasing efforts to design novel therapeutic approaches for RP.

A two-compartment model of the human retina.

Purpose: In this article we question a basic concept in retinal pathology, which views the retina as composed primarily of neural elements, in a single compartment.

Methods: We suggest an alternative approach, centering on the epithelial-glial elements of the retina, dividing the retina into two distinct compartments. The framework of these two compartments is composed of two epithelial-like monostratified cell layers facing each other by their apical surfaces.

The effect of hormone therapy on the risk for age-related maculopathy in postmenopausal women.

Objective: To evaluate the effect of postmenopausal hormone therapy (HT) as well as the use of oral contraceptives and lifetime endogenous hormone exposure on the risk for age-related maculopathy (ARM) in postmenopausal women.

Design: This was a cross-sectional, controlled study. A total of 102 women from 60 to 80 years of age who were receiving HT and 100 controls underwent a detailed clinical funduscopic evaluation and stereoscopic fundus photography for the presence and grading of ARM.

Injury induced by chemical warfare agents: characterization and treatment of ocular tissues exposed to nitrogen mustard.

Purpose: Mustard agents are highly toxic and abundant warfare chemicals, primarily affecting ocular tissues, with no specific treatment antidote. The purpose of the present study was to examine the efficacy of novel metallocomplexes, known to inhibit the formation of highly reactive free radicals, to reduce ocular injury induced by nitrogen mustard (NM).

Methods: One eye in each of 72 rabbits was exposed to 1% to 2% NM.

Retinal function abnormalities in patients treated with vigabatrin.

Objective: To evaluate central and peripheral retinal function in patients treated with vigabatrin, an antiepileptic drug associated with peripheral visual field constriction (VFC).

Methods: Six patients with epilepsy treated with vigabatrin as add-on therapy for at least 3 years were included in this observational case series. All patients underwent a clinical ophthalmologic examination, color vision testing, standard perimetry, and full-field and focal foveal cone electroretinography.

[Experimental therapeutic modalities for retinitis pigmentosa].

Retinitis Pigmentosa (RP) is a heterogeneous group of inherited diseases that cause retinal degeneration, often leading to blindness. Over the last decade, the advent of molecular biological techniques has greatly improved our understanding of the genetic and molecular processes underlying these diseases. This has prompted research efforts aimed at the development of novel therapeutic modalities for RP, and the purpose of this review is to present current trends in this field.

Superoxide dismutase is a virulence factor produced by the coral bleaching pathogen Vibrio shiloi.

Coral bleaching is a disease that threatens coral reefs throughout the world. The disease is correlated with higher-than-normal seawater temperatures. Data have been reported showing that bleaching of the coral Oculina patagonica during the summer in the Mediterranean Sea is the result of an infection with Vibrio shiloi.