29 research outputs found

    Review of the prevalence of diabetic retinopathy in Indigenous Australians

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    Author version made available in accordance with Publisher copyright policy.The purpose of this review is to compare the prevalence of diabetic retinopathy (DR) between Indigenous and non-Indigenous Australians with Diabetes Mellitus (DM). Australian DR prevalence data from 6 Indigenous studies (n = 2865) and 5 non-Indigenous studies (n = 9801) conducted between 1985 and 2013 were included for analysis. Estimated prevalence of any DR among Indigenous Australians with DM was 23.4% compared with 28.9% for non-Indigenous Australians (χ2 = 26.9, P < 0.001). In studies performed after 1990, a significantly higher rate of diabetic macular edema was found in Indigenous compared with non-Indigenous Australians with DM (7.6% versus 4.9%, χ2 = 6.67, P = 0.01). Although there are limitations in comparing these studies, one explanation for the observed data could be a model in which Indigenous Australians are relatively resistant to early stage DR, but with a subset progressing to sight threatening DR due to individual genetic and environmental susceptibility factors coupled with poor glycemic control

    Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy

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    Background: Diabetic macular edema (DME) and proliferative diabetic retinopathy (PDR) are sight threatening complications of diabetes mellitus and leading causes of adult onset blindness worldwide. Genetic risk factors for diabetic retinopathy (DR) have been described previously, but have been difficult to replicate between studies, which have often used composite phenotypes and been conducted in different populations. This study aims to identify genetic risk factors for DME and PDR as separate complications in Australians of European descent with type 2 diabetes. Methods: Caucasian Australians with type 2 diabetes were evaluated in a genome wide association study (GWAS) to compare 270 DME cases and 176 PDR cases with 435 non retinopathy controls. All participants were genotyped by SNP array and after data cleaning, cases were compared to controls using logistic regression adjusting for relevant covariates. Results: The top ranked SNP for DME was rs1990145 (p = 4.10 x 10(-6), OR = 2.02 95%CI [1.50, 2.72]) on chromosome 2. The top-ranked SNP for PDR was rs918519 (p = 3.87 x 10(-6), OR = 0.35 95%CI [0.22, 0.54]) on chromosome 5. A trend towards association was also detected at two SNPs reported in the only other reported GWAS of DR in Caucasians; rs12267418 near MALRD1 (p = 0.008) in the DME cohort and rs16999051 in the diabetes gene PCSK.2 (p = 0.007) in the PDR cohort. Conclusion: This study has identified loci of interest for DME and PDR, two common ocular complications of diabetes. These findings require replication in other Caucasian cohorts with type 2 diabetes and larger cohorts will be required to identify genetic loci with statistical confidence. There is considerable overlap in the patient cohorts with each retinopathy subtype, complicating the search for genes that contribute to PDR and DME biology

    Genetic study of Diabetic Retinopathy: recruitment methodology and analysis of baseline characteristics

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    ARC and NHMRC funded authors may self-archive the author accepted version of their paper (authors manuscript) after a 12-month embargo period from publication in an open access institutional repository.BACKGROUND: Diabetic retinopathy (DR) is a blinding disease of increasing prevalence, caused by a complex interplay of genetic and environmental factors. Here we describe the patient recruitment methodology, case and control definitions, and clinical characteristics of a study sample to be used for genome-wide association (GWAS) analysis to detect genetic risk variants of DR. METHODS: 1669 participants with either type 1 (T1) or type 2 (T2) diabetes mellitus (DM) aged 18 to 95 years were recruited in Australian hospital clinics. Individuals with T2DM had disease duration of at least 5 years, and were taking oral hypoglycemic medication, and/or insulin therapy. Participants underwent ophthalmic examination. Medical history and biochemistry results were collected. Venous blood was obtained for genetic analysis. RESULTS: 683 diabetic cases (178 T1DM and 505 T2DM participants) with sight-threatening DR, defined as severe non-proliferative DR (NPDR), proliferative DR (PDR) or diabetic macular edema (DME) were included in this analysis. 812 individuals with DM but no DR or minimal NPDR were recruited as controls (191 with T1DM and 621 with T2DM). The presence of sight-threatening DR was significantly correlated with DM duration, hypertension, nephropathy, neuropathy, HbA1C and BMI. DME was associated with T2DM (p<0.001), whereas PDR was associated with T1DM (p<0.001). CONCLUSIONS: Adoption of a case-control study design involving extremes of the DR phenotype makes this a suitable cohort, for a well-powered GWAS to detect genetic risk variants for DR.This work was funded by a grant from the Ophthalmic Research Institute of Australia, and Project Grant #595918 from the National Health and Medical Research Council (NHMRC) of Australia. JEC is supported in part by a NHMRC Practitioner Fellowship and KPB by a Career Development Fellowship. Research conducted at Moorfields Eye Hospital was funded by the National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology

    WD-40: A Multi-Use Product

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    A 15-year-old female with a history of syndactyly, brachydactyly and patent ductus arteriosus presented with declining vision and new onset of headache. She was referred for neuro-ophthalmology evaluation. Best corrected acuity was 20/40 in the right eye and 20/100 in the left eye

    Case Report: Crying Blood

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    SIGNIFICANCE. Hemolacria (bloody tears) is a rare clinical presentation with varied underlying etiology. Thorough clinical evaluation is essential to diagnosis and management. PURPOSE. To report unilateral hemolacria in a known contact lens wearer with an occult, palpebral, conjunctival pyogenic granuloma and review the literature. CASE REPORT. A 21-year old female contact lens wearer presents following three episodes of sudden painless bloody tears from the right eye. She was referred to the oculoplastic clinic for evaluation. On everting her right upper lid, a fleshy, non-tender, ovoid, pedunculated mass was found attached to the palpebral conjunctiva of the right, nasal, upper tarsus. Surgical excision was performed in the office and pathologic examination of the lesion was consistent with pyogenic granuloma. CONCLUSIONS. Unilateral hemolacria should raise clinical suspicion for a hidden conjunctival lesion such as pyogenic granuloma, although other more sinister causes of hemolacria must also be considered. Thorough evaluation including eyelid eversion is critical in identifying and managing occult conjunctival lesions

    Case Report: Crying Blood.

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    SignificanceHemolacria (bloody tears) is a rare clinical presentation with varied underlying etiologies. Thorough clinical evaluation is essential to diagnosis and management.PurposeThis study aimed to report unilateral hemolacria in a known contact lens wearer with an occult, palpebral, conjunctival pyogenic granuloma and review the literature.Case reportA 21-year-old female contact lens wearer presented to the clinic after three episodes of sudden painless bloody tears from the right eye. She was referred to the oculoplastic clinic for evaluation. On everting her right upper lid, a fleshy, nontender, ovoid, pedunculated mass was found attached to the palpebral conjunctiva of the right, nasal, upper tarsus. Surgical excision was performed in the office, and pathological examination of the lesion was consistent with pyogenic granuloma.ConclusionsUnilateral hemolacria should raise clinical suspicion for a hidden conjunctival lesion such as pyogenic granuloma, although other more sinister causes of hemolacria must also be considered. Thorough evaluation including eyelid eversion is critical in identifying and managing occult conjunctival lesions

    Association of disease-specific causes of visual impairment and 10-year mortality amongst Indigenous Australians: the Central Australian Ocular Health Study.

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    Visual impairment significantly impairs the length and quality of life, but little is known of its impact in Indigenous Australians. To investigate the association of disease-specific causes of visual impairment with all-cause mortality. A retrospective cohort analysis. A total of 1347 Indigenous Australians aged over 40?years. Participants visiting remote medical clinics underwent clinical examinations including visual acuity, subjective refraction and slit-lamp examination of the anterior and posterior segments. The major ocular cause of visual impairment was determined. Patients were assessed periodically in these remote clinics for the succeeding 10?years after recruitment. Mortality rates were obtained from relevant departments. All-cause 10-year mortality and its association with disease-specific causes of visual impairment. The all-cause mortality rate for the entire cohort was 29.3% at the 10-year completion of follow-up. Of those with visual impairment, the overall mortality rate was 44.9%. The mortality rates differed for those with visual impairment due to cataract (59.8%), diabetic retinopathy (48.4%), trachoma (46.6%), 'other' (36.2%) and refractive error (33.4%) (P?<?0.0001). Only those with visual impairment from diabetic retinopathy were any more likely to die during the 10?years of follow-up when compared with those without visual impairment (HR 1.70; 95% CI, 1.00-2.87; P?=?0.049). Visual impairment was associated with all-cause mortality in a cohort of Indigenous Australians. However, diabetic retinopathy was the only ocular disease that significantly increased the risk of mortality. Visual impairment secondary to diabetic retinopathy may be an important predictor of mortality
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