Confocal blue reflectance imaging in type 2 idiopathic macular telangiectasia.

Purpose: To report the characteristics of confocal blue reflectance imaging in type 2 idiopathic macular telangiectasia (type 2 IMT).

Methods: In a prospective observational cross-sectional study, both eyes of 33 patients with type 2 IMT were examined by means of fundus biomicroscopy, fundus photography, fluorescein angiography, and optical coherence tomography (OCT). Confocal blue reflectance (CBR) imaging was performed using a confocal scanning laser ophthalmoscope (HRA2; Heidelberg Engineering, Heidelberg, Germany).

Combined treatment of acute subretinal haemorrhages with intravitreal recombined tissue plasminogen activator, expansile gas and bevacizumab: a retrospective pilot study.

Purpose: To assess the effectiveness of consecutive intravitreal injections of recombined tissue plasminogen activator (rtPA), expansile gas and bevacizumab in eyes with acute subretinal haemorrhage (SRH).

Methods: A retrospective, non-randomized consecutive case series included 19 eyes in 19 patients with SRH related to exudative age-related macular degeneration (AMD). The initial size of the subfoveal SRH was 1-3 disc diameters.

Correlation of macular function with retinal thickness in nonproliferative type 2 idiopathic macular telangiectasia.

Purpose: To correlate macular thickness determined by optical coherence tomography (OCT) with light increment sensitivity and visual acuity in patients with type 2 idiopathic macular telangiectasia (IMT).

Design: Prospective, cross-sectional study.

Methods: Fifty-one eyes of 30 patients with type 2 IMT were investigated.

[Therapeutic anti-VEGF in ophthalmology: physiopathology and treatment of age-related macular degeneration].

Bei der altersabhängigen Makuladegeneration (AMD) handelt es sich um eine komplexe Erkrankung des Netzhaut-/Pigmentepithel-/ Aderhaut-Komplexes, die typischerweise zu einem Verlust der Sehschärfe und des zentralen Gesichtsfeldes führt. Bei der häufigen neovaskulären Spätform kann ein Sehverlust mittels VEGF-Inhibitoren verhindert und bei einem Teil der Patienten sogar erstmals eine Sehverbesserung erreicht werden.

Short-term effects of intravitreal bevacizumab in type ii idiopathic macular telangiectasia.

Purpose: To report the effect of intravitreal bevacizumab in type 2 idiopathic macular telangiectasia (type 2 IMT).

Design: Interventional case report.

Methods: A 51 year-old female patient with type 2 IMT presented with gradual visual deterioration and reading difficulties.

Findings in fluorescein angiography and optical coherence tomography after intravitreal bevacizumab in type 2 idiopathic macular telangiectasia.

Purpose: To report the short-term effects of intravitreal bevacizumab in patients with type 2 idiopathic macular telangiectasia (IMT).

Design: Noncomparative, interventional, retrospective case series.

Participants: Seven eyes of 6 patients with type 2 IMT were studied.

Combined intravitreal bevacizumab and photodynamic therapy for neovascular age-related macular degeneration.

Background: Our aim was to evaluate the short-term safety and efficacy of combined photodynamic therapy (PDT) with verteporfin and intravitreal bevacizumab in neovascular age-related macular degeneration (AMD).

Methods: A prospective non-randomized interventional case series of 30 eyes of 30 patients with choroidal neovascularization (CNV) caused by AMD was studied. All patients were treated with PDT followed by an intravitreal injection of bevacizumab (1.

Microperimetric assessment of patients with type 2 idiopathic macular telangiectasia.

Purpose: To assess changes of the light increment sensitivity (LIS) of the macular area in patients with type 2 idiopathic macular telangiectasia (IMT).

Methods: Fifty-eight eyes of 30 patients were examined in a cross-sectional study. All eyes were assigned to group A (early disease stages) or group B (late disease stages with retinal pigment clumping or vascular membranes).

Quantifying fixation in patients with Stargardt disease.

Fixational eye movements in 60 eyes of 30 patients with ABCA4-associated Stargardt disease were recorded by a Scanning Laser Ophthalmoscope (SLO). The results were quantified by two new fixation quality measures expressing the eccentricity of the preferred retinal locus (PRL) non-parametrically, and fixation stability by a dynamic index. 46 eyes (77%) fixated eccentrically; in 32 eyes (70% of the eccentrically fixating eyes) the PRL was located above the central retinal lesion.

An update on the genetics of age-related macular degeneration.

Age-related macular degeneration (AMD) is a genetically complex disorder of the photoreceptor-RPE-Bruch's membrane-choriocapillaris complex. Family and twin studies have shown that the susceptibility for this disease is genetically influenced. The heritability has been estimated to be up to 71%.

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

We have identified a consanguineous family from Morocco segregating autosomal recessive congenital progressive hearing loss (ARNSHL) and retinal degeneration. Detailed clinical investigation of the six siblings revealed combined severe cone-rod dystrophy (CORD) and severe/profound hearing impairment in two of them, while there is isolated CORD in three and nonsyndromic profound hearing loss in one. We therefore assumed a partial overlap of two nonsyndromic autosomal recessive conditions instead of a monogenic syndrome and performed genomewide linkage analysis.

Progression of geographic atrophy and impact of fundus autofluorescence patterns in age-related macular degeneration.

Purpose: To test if fundus autofluorescence (FAF) patterns around geographic atrophy (GA) have an impact on GA progression rates over time in atrophic age-related macular degeneration (AMD).

Design: Prospective longitudinal multicenter natural history study.

Methods: Standardized digital FAF images were obtained from 195 eyes of 129 patients with GA using confocal scanning laser ophthalmoscopy (excitation 488 nm, emission >500 nm).

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein complex. In order to identify novel USH genes, we followed a candidate strategy, assuming that mutations in proteins interacting with this "USH network" may cause Usher syndrome as well.

Correlation between the area of increased autofluorescence surrounding geographic atrophy and disease progression in patients with AMD.

Purpose: To test the hypothesis that the extension of areas with increased fundus autofluorescence (FAF) outside atrophic patches correlates with the rate of spread of geographic atrophy (GA) over time in eyes with age-related macular degeneration (AMD).

Methods: The database of the multicenter longitudinal natural history Fundus Autofluorescence in AMD (FAM) Study was reviewed for patients with GA recruited through the end of August 2003, with follow-up examinations within at least 1 year. Only eyes with sufficient image quality and with diffuse patterns of increased FAF surrounding atrophy were chosen.

The dose-response relationship and regional distribution of lactate after intramuscular injection of halothane and caffeine in malignant hyperthermia-susceptible pigs.

We hypothesized that IM halothane and caffeine injection increases local lactate concentration dose-dependently in malignant hyperthermia-susceptible (MHS) and nonsusceptible (MHN) pigs and that the hypermetabolic reaction measured by regional distribution of lactate and carbon dioxide is limited to a small muscle volume. Microdialysis probes were placed in the hindlimbs of 7 MHS and 7 MHN pigs and perfused with Ringer's solution. After equilibration, boluses of increasing halothane and caffeine concentrations were injected.

Autofluorescence imaging of choroidal neovascularization due to age-related macular degeneration.

Objective: To describe the autofluorescence (AF) characteristics of choroidal neovascularization (CNV) in patients with age-related macular degeneration.

Methods: Autofluorescence images of 65 consecutive eyes with CNV at various stages of evolution were analyzed. Twenty images were of recent-onset CNV (group 1), 8 were of eyes 1 to 6 months after CNV diagnosis (group 2), and 37 were late-stage CNV (group 3).

Progressive cone dystrophy with deutan genotype and phenotype.

Purpose: To study the electroretinographic signals originating in the long-wavelength-sensitive (L) and middle-wavelength-sensitive (M) cone pathways by means of large-field and multifocal cone type-specific electroretinograms (ERGs) in a patient with progressive cone dystrophy.

Methods: A 65-year-old male patient with colour vision disturbances (age at onset 10 years), loss of visual acuity (14 years), and central visual field defects (40 years) was investigated. Large-field flicker-ERG responses to stimuli that exclusively modulated the L-cones or the M-cones, or the two simultaneously (both in-phase and in counter-phase), were measured.

Fundus autofluorescence in patients with leber congenital amaurosis.

Purpose: Fundus autofluorescence (FAF), as an index of lipofuscin accumulation in the retinal pigment epithelium (RPE), provides indirect information on the level of metabolic activity of the RPE and thus the integrity of the RPE/photoreceptor complex. To investigate whether the photoreceptor/RPE complex is still viable in patients with Leber congenital amaurosis (LCA), FAF imaging was performed.

Methods: Three patients with LCA (patients A, B, and C; ages, 24, 15, and 37 years, respectively) were enrolled and one patient with RP with preserved visual acuity (age, 28 years) was included as a control.

Localized retinal electrophysiological and fundus autofluorescence imaging abnormalities in maternal inherited diabetes and deafness.

Purpose: To investigate retinal function in patients with maternally inherited diabetes and deafness (MIDD) and to correlate the findings with fundus autofluorescence (FAF) imaging.

Methods: FAF was imaged in five patients (age range, 49-60 years) confirmed to have the mitochondrial DNA nucleotide A3243G point mutation. Retinal function was measured by full-field (Ganzfeld) electroretinography (ERG) and pattern ERG, incorporating the International Society for Clinical Electrophysiology of Vision (ISCEV) standards.

Photopic and scotopic fine matrix mapping of retinal areas of increased fundus autofluorescence in patients with age-related maculopathy.

Purpose: To investigate photopic and scotopic sensitivity of retinal areas that show increased fundus autofluorescence (FAF) in patients with age-related maculopathy (ARM).

Methods: FAF was imaged with a modified confocal scanning laser ophthalmoscope (cSLO). Fine matrix mapping (FMM) was performed with a modified field analyzer.

What is lost by digitizing stereoscopic fundus color slides for macular grading in age-related maculopathy and degeneration?

Objective: To compare 35-mm stereoscopic slide transparencies with digitized nonstereoscopic images (resolution 1024x768 pixels) for grading abnormalities in age-related maculopathy (ARM) and age-related macular degeneration (AMD).

Design: Comparative observational case series.

Participants: Twenty-five patients (50 eyes) with ARM and/or AMD.

Inherited multifocal RPE-diseases: mechanisms for local dysfunction in global retinoid cycle gene defects.

Alterations of retinoid cycle genes are known to cause retinal diseases characterized by focal white dot fundus lesions. Fundus appearances reveal circumscribed RPE-changes, although generalized metabolic defects and global functional abnormalities are present. As a possible explanation, topographic inhomogeneities of the human photoreceptor mosaic and the role of a cone specific visual cycle will be discussed.

Alterations of L- and M-cone driven ERGs in cone and cone-rod dystrophies.

To study the L- and M-cone pathways and their interactions in patients with cone and cone-rod dystrophies, ERG responses were measured to stimuli which modulated exclusively the L- or the M-cones, or the two simultaneously. The L- and M-cone driven ERG amplitudes were considerably reduced in the patients. The mean phases of the L-cone driven ERGs in the patients lagged those of normals significantly, whereas the mean M-cone driven ERGs were significantly phase advanced resulting in a substantial phase difference between the two ERG responses.