TY  - JOUR
AB  - PURPOSE: To investigate the impact of physical activity (PA) on the incidence or progression of age-related macular degeneration (AMD) in the general population. DESIGN: Meta-analysis of longitudinal cohort studies. METHODS: We included a total of 14,630 adults with no or early AMD at baseline from seven population-based studies and examined associations of PA with AMD incidence and progression using multi-state models (MSM) per study and subsequent random effects meta-analysis. Age effects were assessed using meta-regression. MAIN OUTCOME MEASURE: Hazard ratio (HR) for incident early or progression to late AMD. RESULTS: At baseline, mean age ranged from 60.7± 6.9 to 76.4 ± 4.3 years and prevalence of early AMD was 7.7%, ranging from 3.6 to 16.9% between cohorts. During follow-up, 1461 and 189 events occurred for early and late AMD, respectively. In meta-analyses, no or low to moderate PA (high PA as reference) was associated with an increased risk for incident early AMD (HR 1.19; 95%CI=[1.01, 1.40]; p=0.04), but not for late AMD. In subsequent meta-regression, we found no association of age with the effect of PA on incident AMD. CONCLUSIONS: Our study suggests high levels of PA to be protective for the development of early AMD across several population-based cohort studies. Our results establish PA as a modifiable risk factor for AMD and inform further AMD prevention strategies to reduce its public health impact.
AU  - Mauschitz, M.M.*
AU  - Schmitz, M.T.*
AU  - Verzijden, T.*
AU  - Schmid, M.*
AU  - Thee, E.F.*
AU  - Colijn, J.M.*
AU  - Delcourt, C.*
AU  - Cougnard-Grégoire, A.*
AU  - Merle, B.M.J.*
AU  - Korobelnik, J.F.*
AU  - Gopinath, B.*
AU  - Mitchell, P.*
AU  - Elbaz, H.*
AU  - Schuster, A.K.*
AU  - Wild, P.S.*
AU  - Brandl, C.*
AU  - Stark, K.J.*
AU  - Heid, I.M.*
AU  - Günther, F.*
AU  - Peters, A.
AU  - Klaver, C.C.W.*
AU  - Finger, R.P.*
C1  - 63446
C2  - 51536
SP  - 99-106
TI  - Physical activity, incidence and progression of age-related macular degeneration: A multi-cohort study.
JO  - Am. J. Ophthalmol.
VL  - 236
PY  - 2021
SN  - 0002-9394
ER  - 

TY  - JOUR
AB  - PURPOSE: To define a new clinical entity in a consanguineous family with six children affected by a spondylo-ocular syndrome, including cataract, crystalline lens malformation, retinal detachment, osteoporosis, and platyspondyly. To analyze candidate genes of connective tissue disorders as a possible underlying disorder and to demonstrate especially the ocular phenotype. DESIGN: Observational case series. METHODS: Consanguineous parents, one unaffected sibling and five affected children with clinical features of spondylo-ocular syndrome, were demonstrated. Clinical examination, radiologic, laboratory, and cytogenetic as well as moleculargenetic analyses were performed. The segregation of flanking marker alleles of three collagen genes and the interval for osteoporosis-pseudoglioma syndrome were analyzed. Two microsatellite markers located within Pax6CA/GT region were tested for homozygosity. RESULTS: On laboratory investigation a normal excretion of amino acids, mucopolysaccharides, and oligosaccharides could be found. The karyotype was normal. Complete radiologic examination in one index patient revealed a generalized moderate osteoporosis, platyspondyly with fish bone appearance, and greatly enlarged intervertebral spaces. The candidate genes known to be in Stickler syndrome as well as linkage to the osteoporosis-pseudoglioma syndrome candidate region could be excluded. None of the affected showed homozygosity for the Pax6 microsatellite markers. CONCLUSIONS: We conclude that the phenotype and the clinical features in this family defines a new Mendelian disorder. It remains to be seen what kind of molecule shared by eye and bone is involved.
AU  - Rudolph, G.*
AU  - Kalpadakis, P.*
AU  - Bettecken, T.
AU  - Lichtner, P.
AU  - Haritoglou, C.*
AU  - Hergersberg, M.*
AU  - Meitinger, T.
AU  - Schmidt, H.*
C1  - 22433
C2  - 31084
SP  - 681-687
TI  - Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.
JO  - Am. J. Ophthalmol.
VL  - 135
IS  - 5
PY  - 2003
SN  - 0002-9394
ER  -