Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.

Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence tomography (SD\u2011OCT). Mutations in the RP1L1 gene have been identified to be responsible for the disease in Asian subjects. The present study assessed the role of mutations in the RP1L1 gene in an Italian family with OMD. One patient with OMD and five related subjects (two male offspring affected by progressive visual decline and three asymptomatic siblings of the patient) were subjected to complete ophthalmological examination. SD\u2011OCT was also performed. All subjects were screened for OMD\u2011associated genetic mutations in the RP1L1 gene. The OMD patient and the two symptomatic offspring presented with a reduced best\u2011corrected visual acuity. Although no fundus abnormalities were observed, SD\u2011OCT examination showed that the external limiting membrane and the inner segment/outer segment band were not clearly identifiable and a focal disruption of the photoreceptor layer was present. The degree of photoreceptor alterations was correlated with the severity of visual impairment. Clinical and tomographic results in the three asymptomatic relatives were normal. A p.Arg45Trp mutation in the RP1L1 gene was identified in the OMD patient, in the two symptomatic offspring and also in two of the asymptomatic siblings of the patient. The identification of RP1L1 mutations in subjects with OMD may improve the accuracy of diagnosis of this rare condition and may aid in enhancing the efficacy of genetic counseling

Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future.

PURPOSE: Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly of European ancestry. Risk profiles and treatment options have changed considerably over the years, which may have affected disease prevalence and outcome. We determined the prevalence of early and late AMD in Europe from 1990 to 2013 using the European Eye Epidemiology (E3) consortium, and made projections for the future. DESIGN: Meta-analysis of prevalence data. PARTICIPANTS: A total of 42 080 individuals 40 years of age and older participating in 14 population-based cohorts from 10 countries in Europe. METHODS: AMD was diagnosed based on fundus photographs using the Rotterdam Classification. Prevalence of early and late AMD was calculated using random-effects meta-analysis stratified for age, birth cohort, gender, geographic region, and time period of the study. Best-corrected visual acuity (BCVA) was compared between late AMD subtypes; geographic atrophy (GA) and choroidal neovascularization (CNV). MAIN OUTCOME MEASURES: Prevalence of early and late AMD, BCVA, and number of AMD cases. RESULTS: Prevalence of early AMD increased from 3.5% (95% confidence interval [CI] 2.1%-5.0%) in those aged 55-59 years to 17.6% (95% CI 13.6%-21.5%) in those aged ≥85 years; for late AMD these figures were 0.1% (95% CI 0.04%-0.3%) and 9.8% (95% CI 6.3%-13.3%), respectively. We observed a decreasing prevalence of late AMD after 2006, which became most prominent after age 70. Prevalences were similar for gender across all age groups except for late AMD in the oldest age category, and a trend was found showing a higher prevalence of CNV in Northern Europe. After 2006, fewer eyes and fewer ≥80-year-old subjects with CNV were visually impaired (P = 0.016). Projections of AMD showed an almost doubling of affected persons despite a decreasing prevalence. By 2040, the number of individuals in Europe with early AMD will range between 14.9 and 21.5 million, and for late AMD between 3.9 and 4.8 million. CONCLUSION: We observed a decreasing prevalence of AMD and an improvement in visual acuity in CNV occuring over the past 2 decades in Europe. Healthier lifestyles and implementation of anti-vascular endothelial growth factor treatment are the most likely explanations. Nevertheless, the numbers of affected subjects will increase considerably in the next 2 decades. AMD continues to remain a significant public health problem among Europeans

Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future

Purpose Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly of European ancestry. Risk profiles and treatment options have changed considerably over the years, which may have affected disease prevalence and outcome. We determined the prevalence of early and late AMD in Europe from 1990 to 2013 using the European Eye Epidemiology (E3) consortium, and made projections for the future. Design Meta-analysis of prevalence data. Participants A total of 42 080 individuals 40 years of age and older participating in 14 population-based cohorts from 10 countries in Europe. Methods AMD was diagnosed based on fundus photographs using the Rotterdam Classification. Prevalence of early and late AMD was calculated using random-effects meta-analysis stratified for age, birth cohort, gender, geographic region, and time period of the study. Best-corrected visual acuity (BCVA) was compared between late AMD subtypes; geographic atrophy (GA) and choroidal neovascularization (CNV). Main Outcome Measures Prevalence of early and late AMD, BCVA, and number of AMD cases. Results Prevalence of early AMD increased from 3.5% (95% confidence interval [CI] 2.1%–5.0%) in those aged 55–59 years to 17.6% (95%

L'EPIDEMIOLOGIA DELLA RETINOPATIA DIABETICA

ATTI V CONGRESSO NAZIONALE MEDICI DIABETOLOG

LA PRESUNTA ISTOPLASMOSI OCULARE IN UN SOGGETTO AFFETTO DA RETINOPATIA DIABETICA. VALUTAZIONE CLINICA ED EPIDEMIOLOGICA

Gli Autori descrivono un caso di Presunta Istoplasmosi Oculare osservato in un paziente diabetico. \uc8 stato fatto uno studio fluorangiografico delle lesioni oculari. U test cutaneo con I'istoplasmina ed il test specifico di fissazione del complemento sono risultati negativi. Sono stati considerati gli asperti epidemrologici dell'istoplasmosi in Europa

EPITELITE E CORIORETINITE SIEROSA CENTRALE: CORRELAZIONE PATOGENETICA

Nel 1972 Krill e Deutman descrissero una particolare sindrome oculare caratterizzata dalla improssiva riduzione del visus associata al rilievo oftalmoscopico di lesioni dell'epitelio pigmentato retinico consistenti in piccolo accumuli di pigmento circondati da un alone di pigmentazione. Tale quadro con cui gli autori diedero il nome di epitelite, mostrava all'esame fluorangiografico piccole zone iperfluorescenti, circondate da un alone di iperfluoerscenza, senza spandimento di colorante nello spazio sottoretinico. I seguito altri autori segnalarono analoghi quadri clinici e ne ipotizzarono un'origine vitale. Nel 1977 eifrig e Coll. analizzarono le fluorangiografie dim 2500 pazienti evidenziando 61 casi aventi le caratteristiche della epitelite. Nel 1980 Yoshioka e Coll. esaminarono le fluorangiografie di 100 pazienti affetti da corioretinopatia sierosa centrale, riscontrando nel 40% i rilievi tipici della apitelit

CONTROINDICAZIONI E COMPLICANZE DEL TRATTAMENTO FOTOCAUGULATIVO DELLA RETINOPATIA DIABETICA

Riassunto. Negli ultimi anni numerosi studi clinici hanno riconosciuto l'efficacia del trattamento fotocoaugulativo della retinopatia diabetica. Considerando la larga utilizzazione di tale trattamento, gli autori hanno riesaminato le controindicazioni generali e retiniche della terapia con Argon laser. Ne sono state descritte inoltre le pi\uf9 frequenti complicanze interessanti annessi oculari, segmento anteriore posteriore. Summary:Over the past one and one-half decades many clinical trials have recognized that photocoaugulation treatemen of the diabetic retinopathy is effective. Considering that this therapy has been widely user. The Authors have reviwed general and retinal controindications of ophtalmic Argon laser. The most frequent complications for ocular adnexae. The anterior segmentas well a the posterior segment of the eye heve been considere