Limited joint mobility and shoulder capsulitis were evaluated in 109 consecutive diabetic patients attending an out-patient diabetic clinic. Forty-nine had insulin-dependent diabetes mellitus (IDDM) and 60 had non-insulin-dependent diabetes mellitus (NIDDM). Seventy-five normal subjects were also examined. Limitation of joint mobility was detected in 24 (49%) patients with IDDM and in 31 (52%) patients with NIDDM but in only 17 (20%) normal subjects (p less than 0.001). There were no significant differences between diabetic patients with and without joint limitation with regard to age, sex, type of DM, mean daily insulin dosage and overall diabetic control as assessed by estimation of glycosylated haemoglobin concentration. However, patients with impaired joint mobility had a longer duration of diabetes (p = 0.01) and a significantly increased frequency of retinopathy compared to patients without joint limitation (p less than 0.05). Normal subjects with restricted joint mobility were older than those without restriction (p = 0.05). Shoulder capsulitis was present in 19% of patients with diabetes mellitus and 5% of normal subjects. However, there was no significant association between limited joint mobility and shoulder capsulitis in the diabetics.

Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8.

Recent improvements in ophthalmic imaging have led to the identification of a thickened choroid or pachychoroid to be associated with a number of retinal diseases. The number of conditions linked to this phenotype has continued to widen with specific endophenotypes found within the pachychoroid spectrum. The spectrum includes choroidal features such as focal or diffuse choroidal thickening and thinning of the overlying inner choroid, and choroidal hyperpermeability as demonstrated by indocyanine green angiography. In addition, these diseases are associated with overlying retinal pigmentary changes and retinal pigment epithelial dysfunction and may also be associated with choroidal neovascularization. This article provides a comprehensive review of the literature looking at diseases currently described within the pachychoroid spectrum including central serous chorioretinopathy, pachychoroid pigment epitheliopathy, pachychoroid neovasculopathy, polypoidal choroidal vasculopathy/aneurysmal type 1 neovascularization, peripapillary pachychoroid disease and focal choroidal excavation. We particularly focus on clinical imaging, genetics and pathological findings in these conditions with the aim of updating evidence suggesting a common aetiology between diseases within the pachychoroid spectrum.

Genetic variation near GRB2 on chromosome 17q25.1 is associated with sight-threatening diabetic retinopathy. Several genes in this region are promising candidates and in particular GRB2 is upregulated during retinal stress and neovascularisation.

Rs2910164 is significantly associated with microvascular complications DN in patients with T1DM and DME in patients with T2DM.

BackgroundDiabetic 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.MethodsCaucasian 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.ResultsThe top ranked SNP for DME was rs1990145 (p = 4.10 × 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 × 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 PCSK2 (p = 0.007) in the PDR cohort.ConclusionThis 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.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0587-8) contains supplementary material, which is available to authorized users.

Twelve practices with a total list of 74,111 patients were audited; 429 patients were identified with a diagnosis of gout. A wide variation in various clinical and laboratory assessments was detected. Similar variations were also noted regarding dietary advice and medical treatment. Monitoring of patients was infrequent. As a result of this audit, guidelines are proposed to improve the diagnosis and management of gout in the community.

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