Blindheit in Deutschland – Vergleich zwischen bekannten Daten und Vorhersagen

Rohrschneider, Klaus

doi:10.1007/s00347-012-2525-z

Cited by 12 publications

(4 citation statements)

References 17 publications

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“…Since Germany lacks a national registry for the blind, data from social services and population-based studies are used to extrapolate data on prevalence and incidence of blindness and its causes. However, large epidemiological studies focus on the major eye diseases glaucoma, diabetic retinopathy, and age-related macular degeneration-and not on IRDs (Krause, Yousif, & Pohl, 2013;Mauschitz et al, 2019;Rohrschneider, 2012;Wolfram, 2015;Wolfram et al, 2019). We aimed to obtain reliable data for the prevalence of IRDs in Germany and evaluated 2,158 patients from 1,785 families that have been diagnosed in the outpatient clinic for IRDs situated at the Center for Ophthalmology.…”

Section: Demographicsmentioning

confidence: 99%

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

et al. 2020

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We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A cohort of 2,158 affected patients from 1,785 families diagnosed with IRD was analyzed by targeted next‐generation sequencing (NGS). Patients with single‐gene disorders (i.e., choroideremia and retinoschisis) were analyzed by Sanger sequencing and multiplex ligation‐dependent probe amplification. Our study cohort accounts for ∼7% of the estimated 30,000 patients with IRD in Germany, thereby providing representative data for both the prevalence of IRDs and the mutation spectrum of IRD genes for the population in Germany. We achieved a molecular diagnostic rate of 35–95%, depending on the clinical entities, with a high detection rate for achromatopsia, retinoschisis, and choroideremia, and a low detection rate for central areolar choroidal dystrophy and macular dystrophy. A total of 1,161 distinct variants were identified, including 501 novel variants, reaffirming the known vast genetic heterogeneity of IRD in a mainly outbred European population. This study demonstrates the clinical utility of panel‐based NGS in a large and highly heterogeneous cohort from an outbred population and for the first time gives a comprehensive representation of the genetic landscape of IRDs in Germany. The data are valuable and crucial for the scientific community and healthcare providers, but also for the pharmaceutical industry in the progressing field of personalized medicine and gene therapy.

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Section: Demographicsmentioning

confidence: 99%

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

et al. 2020

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“…The age-standardized incidence was 79 per 100,000 person-years, with a steep increase at the highest ages. The incidence of SVI/B has been previously investigated for different federal states of Germany [4]. The incidence has been estimated at 17.5/100,000 inhabitants for Bavaria, 14/100,000 inhabitants for Hesse, 11.6/100,000 inhabitants, 12.3/100,000 inhabitants for Württemberg-Hohenzollern, and 11.1/100,000 person-years for North Rhine-Westphalia Klicken oder tippen Sie hier, um Text einzugeben.…”

Section: Incidence Of Svi/bmentioning

confidence: 99%

“…A number of studies for Germany have evaluated the incidence of blindness for individual federal states within the last 30 years: Rohrschneider estimated incidence rates on level of federal states and detected profound differences in SVI/B between the federal states and AMD as the main risk factor of the trends in SVI/B [4]. For the German federal states Baden-Wuerttemberg and Saxony, Claessen and colleagues computed age-and sex-standardized all-cause incidence rates of blindness that decreased over time [5,6].…”

Section: Introductionmentioning

confidence: 99%

Incidence, individual, and macro level risk factors of severe binocular visual impairment and blindness in persons aged 50 and older

et al. 2021

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Objective This study aims to estimate the incidence of severe binocular vision impairment and blindness (SVI/B) and to identify eye diseases and regional risk factors of persons with SVI/B at ages 50 years and older. Methods We designed an observational cohort study based on longitudinal, multifactorial, and administrative information of a random sample of 250,000 persons at ages 50+. All individuals were included in the process-produced health claims register of the Allgemeine Ortskrankenkasse in 2004, and were followed until 2015. We analyzed ten selected eye diseases and regional characteristics as risk factors for SVI/B using Cox models, adjusting for demographic characteristics and multi-morbidity. Results The age-standardized incidence was 79 new diagnoses of SVI/B per 100,000 person-years (95%-CI: 76-82); 77 for males (72-82) and 81 for females (77-85). By adjusting for multiple factors, the model revealed and confirmed that individuals who were very old (Hazard ratio90+: 6.67; 3.59-12.71), male (1.18; 1.01-1.38), had multi-morbidities (three+ diseases: 3.36; 2.51-4.49), or had diabetes (1.26; 1.07-1.49) had an increased risk of SVI/B. Compared to persons without the particular eye disease (all p<0.001), persons diagnosed with secondary glaucoma had a multiple-adjusted 4.66 times (3.17-6.85) higher risk, those with retinal vascular occlusion had a 4.51 times (3.27-6.23) higher risk, and those with angle-closure glaucoma had a 4.22 times (2.60-6.85) higher risk. Population density was not a risk factor, while persons living in wealthier regions had 0.75 times (p=0.003) to 0.70 times (p<0.001) the risk of SVI/B than persons in the least wealthy regions of Germany. Conclusion The study revealed and confirmed some profound risk factors of SVI/B at both the individual and the macro level. The sizes of the effects of the characteristics of the living context were smaller than those of the individual characteristics, especially for some severe eye diseases. While urbanity and access to health services had no effect, regional economic wealth was a risk factor for SVI/B. Future health care measures and advice by physicians should take these dimensions of inequalities in SVI/B into account.

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“…Age-related macular degeneration (ARMD) is the main cause of legal blindness in elderly people in developed countries. [ 1 ] Age is the main risk factor associated with this disease. [ 2 ] Although the pathogenesis of ARMD is not completely established, three different models of pathogenesis have been defined: oxidative stress, ischemia, and inflammation.…”

mentioning

confidence: 99%

Color Doppler imaging of the retrobulbar circulation and plasmatic biomarkers of vascular risk in age-related macular degeneration: A pilot study

Rodrigo

Ruiz-Moreno

García

et al. 2018

Indian J Ophthalmol

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Purpose:To evaluate preliminarily and compare the level of plasmatic biomarkers of vascular risk in patients with and without exudative age-related macular degeneration (ARMD) and to relate it to vascular resistance alterations in the ophthalmic artery (OA), central retinal artery (CRA), posterior temporal ciliary artery (PTCA), and posterior nasal ciliary artery (PNCA).Methods:Color Doppler imaging of the OA, CRA, PTCA, and PNCA was performed in 30 eyes of 30 cataract patients (control group) as well as in 30 eyes of 30 patients with naive exudative ARMD (study group), measuring the peak systolic velocity, end-diastolic velocity (EDV), and Pourcelot resistive index (RI). Likewise, in both groups, a blood test was performed to determine the plasmatic levels of homocysteine, C-reactive protein (CRP), B12 vitamin, and folic acid.Results:A positive and significant correlation was found between the level of CRP and RI of the OA in the ARMD group (r = 0.498, P = 0.005), with an increased RI in all arteries compared to controls, although differences only reached statistical significance for the PTCA (P = 0.035). Likewise, a significantly lower EDV for the CRA was found in ARMD eyes compared to controls (P = 0.041). In the study group, significantly higher plasmatic levels of homocysteine (P = 0.042) and CRP (P = 0.046) were found. In contrast, no significant differences were found between groups in the levels of folic acid (P = 0.265) and B12 vitamin (P = 0.520).Conclusion:The decrease of the choroidal perfusion related to hyperhomocysteinemia, and increase in the CRP plasmatic levels may play an etiological role on the exudative ARMD. This should be investigated in future studies with larger samples of patients.

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Blindheit in Deutschland – Vergleich zwischen bekannten Daten und Vorhersagen

Cited by 12 publications

References 17 publications

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

Incidence, individual, and macro level risk factors of severe binocular visual impairment and blindness in persons aged 50 and older

Color Doppler imaging of the retrobulbar circulation and plasmatic biomarkers of vascular risk in age-related macular degeneration: A pilot study

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