Transcription as source of genetic heterogeneity in budding yeast.

Transcription presents challenges to genome stability both directly, by altering genome topology and exposing single-stranded DNA to chemical insults and nucleases, and indirectly by introducing obstacles to the DNA replication machinery. Such obstacles include the RNA polymerase holoenzyme itself, DNA-bound regulatory factors, G-quadruplexes and RNA-DNA hybrid structures known as R-loops. Here, we review the detrimental impacts of transcription on genome stability in budding yeast, as well as the mitigating effects of transcription-coupled nucleotide excision repair and of systems that maintain DNA replication fork processivity and integrity.

Senescence in yeast is associated with amplified linear fragments of chromosome XII rather than ribosomal DNA circle accumulation.

The massive accumulation of extrachromosomal ribosomal DNA circles (ERCs) in yeast mother cells has been long cited as the primary driver of replicative ageing. ERCs arise through ribosomal DNA (rDNA) recombination, and a wealth of genetic data connects rDNA instability events giving rise to ERCs with shortened life span and other ageing pathologies. However, we understand little about the molecular effects of ERC accumulation.

Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).

Purpose: To investigate the nature of symptomatic visual disturbance in patients with EFEMP1 retinal dystrophy in the absence of geographic atrophy or choroidal neovascularization.

Methods: Patients presenting to a tertiary referral centre underwent clinical evaluation, fluorescein angiography, colour contrast sensitivity, focal, pattern, and standard electroretinography, electrooculography, scotopic threshold perimetry and dark adaptometry.

Results: Clinical features included reduced central vision, difficulty passing from light to dark, and diffuse submacular and peripapillary deposits, which were hyperfluorescent by fluorescein angiography.

[Retinal vasculopathy associated with Berger's IgA nephropathy].

Aim: Ophthalmological complications associated with Berger's IgA nephropathy comprise scleritis, episcleritis, keratoconjunctivitis as well as anterior uveitis. We present a new association of IgA nephropathy with a retinal vasculopathy.

Methods: Presentation of two clinical cases.

Indocyanine green angiographic findings in choroidal hemangiomas: A study of 75 cases.

Indocyanine green (ICG) angiography is a new diagnostic modality that was suggested, in small series, to provide a typical angiographic pattern in cases of choroidal hemangioma. Our study, through an exceptionally large series of 75 patients, assessed in a prospective way whether a typical ICG pattern of choroidal hemangioma exists and what would be its possible variations. The most constant feature is the sequence of the different ICG angiographic phases.

Indocyanine green angiography in Fundus flavimaculatus.

Purpose: To describe the characteristic findings of fundus flavimaculatus (Stargardt disease) as seen on indocyanine green angiography.

Methods: Twelve eyes of 6 consecutive patients with fundus flavimaculatus were studied by fundus color photographs, fluorescein angiography and indocyanine green angiography.

Results: Indocyanine green angiography allowed visualization of small, clearly demarcated areas in which hypofluorescence increased over time, leading eventually to a large reticular pattern with small areas of normal-appearing choroid encircled by a well-defined network of hypofluorescent curvilinear lesions.

A preliminary study of photodynamic therapy using verteporfin for choroidal neovascularization in pathologic myopia, ocular histoplasmosis syndrome, angioid streaks, and idiopathic causes.

Objective: To evaluate short-term safety and the effects on visual acuity and fluorescein angiography of single or multiple sessions of photodynamic therapy with verteporfin for choroidal neovascularization (CNV) not related to age-related macular degeneration (AMD), including pathologic myopia, the ocular histoplasmosis syndrome, angioid streaks, and idiopathic causes.

Design: A nonrandomized, multicenter, open-label, dose-escalation phase 1 and 2 clinical trial.

Setting: Four ophthalmic centers in Europe and North America providing retinal care.

Photodynamic therapy with verteporfin for choroidal neovascularization caused by age-related macular degeneration: results of retreatments in a phase 1 and 2 study.

Objectives: To evaluate safety and short-term visual acuity and fluorescein angiographic effects of photodynamic therapy (PDT) after retreatments with verteporfin for choroidal neovascularization (CNV) in age-related macular degeneration (AMD) that demonstrated fluorescein leakage after at least 1 course of PDT.

Design: Nonrandomized, multicenter, open-label phase 1 and 2 clinical trial using 2 different retreatment dosage regimens.

Setting: Four ophthalmic centers in Europe and North America providing retinal care.

Photodynamic therapy with verteporfin for choroidal neovascularization caused by age-related macular degeneration: results of a single treatment in a phase 1 and 2 study.

Objective: To evaluate the safety and short-term visual and fluorescein angiographic effects of a single photodynamic therapy treatment with verteporfin with the use of different dosage regimens in patients with choroidal neovascularization (CNV) from age-related macular degeneration.

Design: Nonrandomized, multicenter, open-label, clinical trial using 5 dosage regimens.

Setting: Four ophthalmic centers in North America and Europe providing retinal care.

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium (RPE). Both loci were mapped to chromosome 2p16-21 (refs 5,6) and this genetic interval has been subsequently narrowed. The importance of these diseases is due in large part to their close phenotypic similarity to age-related macular degeneration (AMD), a disorder with a strong genetic component that accounts for approximately 50% of registered blindness in the Western world.

Indocyanine green angiographic features in tuberculous chorioretinitis.

Purpose: To determine choroidal involvement in presumed tuberculous posterior uveitis by examining indocyanine green angiographic features.

Methods: Indocyanine green angiography was performed according to a standard uveitis angiographic protocol in eight consecutive patients (15 eyes) with presumed posterior tuberculous uveitis.

Results: In 100% of the 15 examined eyes, indocyanine green angiography disclosed choroidal lesions that were subclinical, not detected by fundus examination or fluorescein angiography, in six (40%) of 15 eyes.

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.

Purpose: The RHO C110Y mutation has been recently reported to cause a phenotypically unspecified form of autosomal dominant retinitis pigmentosa (adRP). The study of a family affected with this mutation allowed us to hereby describe the genotype/phenotype correlation associated with the RHO C110Y mutation.

Methods: A six-generation pedigree cosegregating adRP and RHO C110Y in ten accessible individuals was ophthalmologically investigated.

Chorioretinal vascular abnormalities associated with angioid streaks and pseudoxanthoma elasticum.

Objective: To analyze the retinal and choroidal vascular abnormalities in eyes with angioid streaks (AS) associated with pseudoxanthoma elasticum (PXE).

Methods: Color photographs and fluorescein angiograms of 54 eyes of 27 consecutive patients with AS and PXE were examined retrospectively.

Results: Four (7%) of the 54 eyes had a major vascular abnormality at the level of the disc; this took the form of a large vascular loop corresponding to an arteriovenous communication between retina and choroid in 3 eyes (6%) and an anastomosis between 2 retinal arteries in 1 eye (2%).

Acute posterior multifocal placoid pigment epitheliopathy following mumps.

Purpose: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired inflammatory disorder affecting the retina, retinal pigment epithelium, and choroid of healthy adults. APMPPE has been reported to occur after diverse infectious diseases, suggesting a possible immune disorder. The primary site of inflammation remains hypothetical.

Bilateral optic papillitis following mycoplasma pneumoniae pneumonia.

Mycoplasma pneumoniae is an atypical bacterium that can cause a great variety of respiratory infections and be responsible for ocular involvement such as conjunctivitis, anterior uveitis and very rarely optic neuropathy. We report herein an additional case of bilateral optic disc swelling with profound visual loss following Mycoplasma pneumoniae pneumonia and review the world literature on the ocular manifestations associated with this pathogen.

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].

Purpose: Phenotypic, genetic and molecular characterization of 69 index patients with retinitis pigmentosa (RP) and various inherited retinal diseases.

Patients And Method: patients went through complete ocular examination and blood samples were drawn for mutational screening of three candidate genes: rhodopsin (RHO), peripherin/RDS, and ROM-1.

Results: the most frequent type of RP among our population was the autosomal dominant (43.

Photodynamic therapy of subfoveal choroidal neovascularization: clinical and angiographic examples.

Background: Conventional photocoagulation of subfoveal choroidal neovascularization (CNV) is often accompanied by visual loss due to thermal damage to adjacent retinal structures. Photodynamic therapy (PDT) allows vascular occlusion by selective photochemical destruction of vascular endothelial cells only. In a pilot study we evaluated the use of PDT in CNV.

Morphometric characteristics of traumatic choroidal ruptures associated with neovascularization.

Purpose: To define the morphometric characteristics of indirect choroidal ruptures associated with choroidal neovascularization (CNV).

Methods: A total of 79 eyes that had sustained traumatic indirect choroidal ruptures was studied retrospectively. Color pictures of the fundus and fluorescein angiograms were available in all cases, and patients were followed for at least 1 year.

[Exudative parafoveal astrocytic hamartoma associated with Bourneville tuberous sclerosis: spontaneous evolution].

The authors present an unusual case of exsudative parafoveolar astrocytic hamartome associated with tuberous sclerosis. The spontaneous regression of the serous retinal detachment and of the hard exsudates is described.

[Unilateral diffuse subacute neuroretinitis].

The authors report two cases of diffuse unilateral subacute neuroretinitis. The evolution of the illness, here at late stage in both cases, and the different paraclinical investigations will be presented.

Age-related macular disease in rural southern Italy.

Objective: To report the prevalence of age-related maculopathy (ARM) in Salandra, a small, isolated southern Italian community, to test the hypothesis that an environmental factor, scarce in such a remote community but ubiquitous in modern industrial societies, might modify the risk of developing ARM.

Design: Population-based cross-sectional survey.

Main Outcome Measures: Prevalence of advanced age-related macular degeneration (ARMD) (geographic atrophy or exudative maculopathy) and ARM (large, soft drusen or retinal pigment epithelium changes, or both) defined by fundus biomicroscopy and 30 degrees stereoscopic, macular photography.

Subretinal lesions following a scleral buckling procedure.

Pigment epithelial detachment is usually associated with disorders of the underlying Bruch's membrane and choroid in a context of age-related macular degeneration. In a very few cases, lesions resembling pigment epithelial detachment have been reported after retinal reattachment surgery. We observed an additional case who presented deep lesions several weeks after a scleral buckling procedure for retinal detachment.

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.

The objective of this study was to fully characterize the macular dystrophy phenotype and genotype in a large family of the Zermatt area of Switzerland. Clinical and molecular studies of the family included a comprehensive eye examination and a mutational analysis of the RDS, rhodopsin, and TIMP-3 genes. In selected cases, fluorescein angiography, perimetry, and electroretinography were performed.

[Post-concussion occlusion of the central artery and vein of the retina].

Background: Combined simultaneous occlusion of the central retinal artery and central retinal vein occurs very rarely and has been observed in patients with systemic disorders such as leukaemia.

Case Report: We report a case of a young man who suffered a combined retinal vascular occlusion with occlusion of the posterior ciliary arteries following blunt trauma to the face with massive haematoma of the lids. To our knowledge, this is the first time that such a sequence of events has been recorded.

[Uveal effusion syndrome: clinical and ultrastructural aspects].

Unlabelled: Spontaneous serous detachment of the choroid and ciliary body, together with bullous serous detachment of the retina (uveal effusion syndrome) is a rare but well-defined syndrome frequently associated with nanophthalmos.

Case Reports: Based on three cases whose one familial, clinical and ultrastructural characteristics of the syndrome are reviewed and the role of ultrasonic biomicroscopy (UBM) presented.

Conclusion: The severe and potentially blinding complications encountered after any surgery on these eyes make the recognition of the classical clinical signs and symptoms of the syndrome particularly important.