scholarly journals A review of ocular genetics and inherited eye diseases

2012 ◽  
Vol 71 (4) ◽  
Author(s):  
S. D. Mathebula

During the past twenty years, there has been an exponential increase in the knowledge and under-standing of ocular genetic diseases and syndromes. The number of human eye diseases that have a known genetic or hereditary component continues to increase. In addition, genetic diseases are the most common cause of blindness in infants and children in developed countries. Optometrists are likely to encounter patients with inherited eye disorders. They may be the first clinician the patient consults. Inherited eye diseases may be isolated (only affecting the eye) or part of a complicated syndrome. Both isolated eye diseases and genetic syndromes can have identifiable gene mutation known to cause the disease.Knowledge of the clinical and molecular features of ocular genetics and inherited eye diseases is important for appropriate diagnosis and patient management. This article reviews the current information on ocular genetics and inherited eye diseases.The ocular conditions described in the review have significant visual impairment and blindness consequences. Therefore, optometrists (as the mostly likely first line of consultation) should be able todiagnose the condition appropriately first before they could make any management, care or referralplan. Visual aids are, of course, one of the management options for such patients with visual impairment. (S Afr Optom 2012 71(4) 178-189)

Author(s):  
Petri K. M. Purola ◽  
Janika E. Nättinen ◽  
Matti U. I. Ojamo ◽  
Seppo V. P. Koskinen ◽  
Harri A. Rissanen ◽  
...  

Abstract Purpose To study the prevalence and incidence of the most common eye diseases and their relation to health-related quality of life (HRQoL), depression, psychological distress, and visual impairment in the aging population of Finland. Methods Our study was based on two nationwide health surveys conducted in 2000 and 2011. Eye disease status data were obtained from 7379 and 5710 individuals aged 30 + years, of whom 4620 partook in both time points. Both surveys included identical indicators of HRQoL (EuroQol-5 Dimension [EQ-5D], 15D), depression (Beck Depression Inventory [BDI]), psychological distress (General Health Questionnaire-12 [GHQ-12]), visual acuity, and self-reported eye diseases. We assessed the impact of known eye diseases on these factors, adjusted for age, gender, and co-morbidities. Results Prevalence of self-reported eye diseases was 3.1/2.7% for glaucoma, 8.1/11.4% for cataract, and 3.4/3.8% for retinal degeneration in 2000 and 2011, and the average incidence between 2000 and 2011 was 22, 109, and 35 /year/10,000 individuals, respectively. These eye diseases were associated with a significant decrease in EQ-5D and 15D index scores in both time points. BDI and GHQ-12 scores were also worsened, with some variation between different eye diseases. Impaired vision was, however, the strongest determinant of declined HRQoL. During the 11-year follow-up the effect of eye diseases on HRQoL and mental health diminished. Conclusion Declined HRQoL associated with eye diseases is more related to impaired vision than the awareness of the disease itself, and this declining effect diminished during the follow-up. Therefore, information directed to the public on the risks and prevention of blindness can and should be strengthened to prevent the deleterious effects of visual impairment.


2019 ◽  
Author(s):  
Kenneth W. Wright ◽  
Yi Ning Strube

Completely updated and revised, the fourth edition provides primary care physicians with must-know information on eye examinations, eye disorders, vision screening, strabismus, dyslexia, ocular trauma, genetic syndromes, and all pediatric-specific eye issues likely to be encountered in primary care. https://shop.aap.org/pediatric-ophthalmology-for-primary-care-paperback/


2016 ◽  
Vol 75 (1) ◽  
Author(s):  
Antony S. Carlson ◽  
Warren A. Carlson ◽  
William F. Harris

Purpose: Providing vision correction in communities where healthcare facilities are unavailable is problematic. Here, we explore the possibility of using pinholes as near visual aids in the developing world.Method: Uncompensated (without the pinhole) proximal visual acuities (VAs) were measured and recorded for one eye of 45 presbyopic subjects over the age of 50 years in photopic (250 lux) and scotopic (20 lux) conditions. The proximal VAs were then repeated while the subjects looked through nine different pinholes.Results: The VAs varied with the diameter of each pinhole. A comparative measure was devised to determine the relative performance of different diameter pinholes as a near visual aid. The results suggest an improvement of more than 40% in VA in about 67% of subjects in good lighting conditions and about 60% in poorer lighting conditions.Conclusion: By creating more awareness that there are other ways of improving vision that cost almost nothing, visual impairment can be reduced until spectacles become available.


Author(s):  
Jacqueline Chua ◽  
Ching-Yu Cheng ◽  
Tien Yin Wong

General physicians have an essential role in preventing vision loss in older people. However, most vision-threatening eye disorders are initially asymptomatic and often go underdiagnosed. Therefore screening, early detection, and timely intervention are important in their management. The most common cause of visual impairment is uncorrected or undercorrected refractive error, followed by cataract, age-related macular degeneration, glaucoma, and diabetic retinopathy. Spectacles and cataract surgery can successfully restore sight for uncorrected refractive error and cataract, respectively. Visual impairment as a result of age-related macular degeneration, glaucoma, and diabetic retinopathy can be prevented with appropriate treatment if they are identified early enough. This chapter provides an overview of common age-related eye disease and visual impairment.


2020 ◽  
pp. 0734242X2095427
Author(s):  
Maribel Velasco Perez ◽  
Perla Xochitl Sotelo Navarro ◽  
Alethia Vazquez Morillas ◽  
Rosa María Espinosa Valdemar ◽  
Jéssica Paola Hermoso Lopez Araiza

Absorbent hygiene products (AHP) have received much interest due to the notion that their end-of-life (EoL) stage has high environmental impacts. Since the use of AHP will continue to rise in the foreseeable future, information that helps with a reduction in the environmental impacts of AHP through their life cycle is needed. This research presents an estimation of AHP in municipal waste, and it also reviews and discusses waste management options, available treatments at bench, pilot or full scale, and life cycle assessments (LCAs) available in the literature. Municipal waste of countries belonging to the Organization for Economic Co-operation and Development contains on average 2.7% of baby nappies, 4.8% of adult nappies and 0.5% of sanitary pads (in weight), whereas that of Latin-American countries have 7.3%, 3.3%, and 0.9%, respectively. Management options for AHP waste in developed countries are landfilling and incineration, while in developing countries AHP are disposed of in dumpsites and landfills. Most LCAs identify significant environmental impacts in the production of raw materials, while EoL scenarios involving incineration and landfill were found to have a significant contribution to global warming potential. Substitution with alternative products has been suggested as a way of decreasing environmental impacts; however, their use frequently causes a trade-off on different impact categories. Municipalities could use a wide range of policy tools, such as extended producer responsibility systems, bans, levies, ecolabelling, or a combination of these, to reduce the environmental and economic burden of AHP waste.


2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Rosalynn Grace Siantar ◽  
Ching-Yu Cheng ◽  
Chui Ming Gemmy Cheung ◽  
Ecosse L. Lamoureux ◽  
Peng Guan Ong ◽  
...  

2012 ◽  
Vol 4 ◽  
pp. OED.S9204 ◽  
Author(s):  
GO Ovenseri-Ogbomo ◽  
S Ocansey ◽  
EK Abu ◽  
S Kyei ◽  
SB Boadi-Kusi

Objective The focus of this study was to evaluate the visual status of mine workers who were directly involved in mining and/or are exposed to the mining environment. Methods A hospital based cross-sectional study was conducted. Four hundred and six (406) workers were conveniently sampled for the study. Information on their socio-demographic data was also collected. In addition, all participants underwent ophthalmic examination. Results The mean age of the workers was 41.1 years. Visual impairment was found in 114 (28.1%) of the study population of which refractive error (56.8%) was the major cause. Presbyopia was also observed in 45.5% of the workers with only 30.3% of them wearing near correction. The prevalence of eye diseases were pterygium/pingueculae (25.8%), conjunctivitis (26.8%), suspected glaucoma (15.3%), and cataract (7.4%). Conclusions Visual impairment and eye diseases were found among the miners.


2013 ◽  
Vol 45 (1) ◽  
pp. 29-35 ◽  
Author(s):  
Chiu-Fang Chou ◽  
Mary Frances Cotch ◽  
Susan Vitale ◽  
Xinzhi Zhang ◽  
Ronald Klein ◽  
...  

2015 ◽  
Vol 24 (3) ◽  
pp. 94-105
Author(s):  
Susan M. Bruce ◽  
Chris Brum ◽  
Allison Nannemann

This article discusses genetic syndromes that are etiologies of severe disabilities that include the characteristic of visual impairment. Information provided about refractive errors, field loss, cortical visual impairment, and ocular issues is intended to support the practitioner outside the field of visual impairment to collaborate with the teacher of students with visual impairments (TVI). This article provides an overview of the responsibilities of the TVI who can advise others about appropriate enlargement of materials, positioning for optimal use of functional vision, and adaptations to lessons such as the individualized daily schedule. Additionally, the TVI is familiar with instructional strategies to support the use of functional vision and to develop tactile skills. This article concludes with a discussion of the importance of interprofessional collaboration.


Author(s):  
Chandi Perera

Around 15% of the global population has a permanent disability, including approximately 285 million people with a visual impairment and an estimated 700 million people with dyslexia, the most common form of learning disability. The World Blind Union estimates less than 10% of published works are made into accessible formats in developed countries which drops to less than 1% in developing countries. As markup professionals and content models experts, there is a lot we can do to make a positive impact towards making more content accessible. This session will look at accessibility; our social, ethical, and legal responsibilities around content accessibility; and what we can do to make content more accessible.


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