Sibling correlations and segregation analysis of age‐related maculopathy: The beaver dam eye study

Heiba, Ibrahim M.; Elston, Robert C.; Klein, Barbara E. K.; Klein, Ronald

doi:10.1002/gepi.1370110106

Cited by 230 publications

(133 citation statements)

References 21 publications

(5 reference statements)

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“…The number of genes involved could not be predicted. 36 We think at present, given the locus found on chromosome 1q,16 the small number of ABCR mutations found in ARM37 and our own data, that it is hardly probable this model36 still holds.…”

Section: Segregation Analysismentioning

confidence: 86%

Age-related maculopathy: Its genetic basis

Jong

Bergen²,

Klaver

et al. 2001

Eye

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Section: Segregation Analysismentioning

confidence: 86%

Age-related maculopathy: Its genetic basis

Jong

Bergen²,

Klaver

et al. 2001

Eye

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“…Overview AMD is often regarded as a group of complex, late onset diseases modulated by the convergence of multiple risk factors (196,197). Family history is a consistent risk factor identified in most epidemiological studies of AMD conducted to date, and familial aggregation studies have shown that a genetic contribution is readily identified in up to 25% of AMD cases (198).…”

Section: Molecular Genetics Of Amd and Disease Associationsmentioning

confidence: 99%

Age‐related macular degeneration—emerging pathogenetic and therapeutic concepts

et al. 2006

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Today, the average life expectancy in developed nations is over 80 years and climbing. And yet, the quality of life during those additional years is often significantly diminished by the effects of age-related, degenerative diseases, including age-related macular degeneration (AMD), the leading cause of blindness in the elderly worldwide. AMD is characterized by a progressive loss of central vision attributable to degenerative and neovascular changes in the macula, a highly specialized region of the ocular retina responsible for fine visual acuity. Estimates gathered from the most recent World Health Organization (WHO) global eye disease survey conservatively indicate that 14 million persons are blind or severely visually impaired because of AMD. The disease has a tremendous impact on the physical and mental health of the geriatric population and their families and is becoming a major public health burden.Currently, there is neither a cure nor a means to prevent AMD. Palliative treatment options for the less prevalent, late-stage 'wet' form of the disease include anti-neovascular agents, photodynamic therapy and thermal laser. There are no current therapies for the more common 'dry' AMD, except for the use of antioxidants that delay progression in 20%-25% of eyes. New discoveries, however, are beginning to provide a much clearer picture of the relevant cellular events, genetic factors, and biochemical processes associated with early AMD. Recently, compelling evidence has emerged that the innate immune system and, more specifically, uncontrolled regulation of the complement alternative pathway plays a central role in the pathobiology of AMD. The complement Factor H gene-which encodes the major inhibitor of the complement alternative pathway-is the first gene identified in multiple independent studies that confers a significant genetic risk for the development of AMD. The emergence of this new paradigm of AMD pathogenesis should hasten the development of novel diagnostic and therapeutic approaches for this disease that will dramatically improve the quality of our prolonged lifespan.

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“…It has been postulated that cataract and ARM might occur frequently together because of shared genetic 25,26 or environmental factors, cohort including age, diet, 27,28 light exposure 29,30 and cigarette smoking. [31][32][33][34][35][36] Current available evidence, however, is weak and inconsistent 11,12,14,15 in support of an association between cataract and ARM.…”

Section: Discussionmentioning

confidence: 99%

Early age-related maculopathy in eyes after cataract surgery

Pham

Cugati

Rochtchina

et al. 2006

Eye

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Purpose To assess age-related maculopathy (ARM) in eyes of patients who had undergone cataract surgery for at least a year. Methods Consecutive patients aged 60 þ years who had undergone cataract surgery at Westmead Hospital, Sydney, Australia, during 2001-2003 were examined in 2004. Interview using standardized questionnaires and stereo retinal photography was performed. Retinal photographs were graded using the Wisconsin ARM grading system. The proportions with ARM were compared between surgical and nonsurgical eyes, and between this surgical cohort and the Blue Mountains Eye Study (BMES) population. Results Of the 622 eligible patients, 454 (73%) were re-examined, with a mean followperiod of 2.8 years. Surgical eyes had a higher proportion of early ARM compared to nonsurgical eyes (15.2 vs 10.3%, P ¼ 0.07) and to the early ARM prevalence found in BMES participants of similar age (14.5 vs 6.9%, Po0.01), which persisted after age standardization to the BMES population (9.7 vs 6.9%, Po0.05). Conclusions We found an increased prevalence of early ARM in surgical eyes of patients 1-3 years after cataract surgery. Whether this increased early ARM prevalence leads to an increased prevalence of late ARM in the long-term warrants further investigation.

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Sibling correlations and segregation analysis of age‐related maculopathy: The beaver dam eye study

Cited by 230 publications

References 21 publications

Age-related maculopathy: Its genetic basis

Age-related maculopathy: Its genetic basis

Age‐related macular degeneration—emerging pathogenetic and therapeutic concepts

Early age-related maculopathy in eyes after cataract surgery

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