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Introduction: Bardet-Biedl Syndrome (BBS) is a ciliopathy causing developmental defects and progressive retinal dystrophy, whereas choroidal coloboma is a developmental defect causing structural deficiency in the posterior retina. Both are rarely reported together. Methods: Here, we describe the phenotype and genotype of three unrelated patients with co-occurrence of Bardet-Biedl Syndrome and chorioretinal coloboma and review the pertinent literature. Results: We describe three unrelated patients, with variable clinical features of Bardet Biedl syndrome. None had family history of BBS or coloboma. Each carried biallelic variants in BBS1, BBS9 and TTC8 gene, respectively. Two had unilateral chorioretinal coloboma, while one had bilateral chorioretinal coloboma. Discussion: Although there may be other explanatory factors yet to be revealed, our data suggests that chorioretinal coloboma may be associated with BBS. The Hedgehog (Hh) signaling pathway, an intercellular communicator for development of the eye, is dependent on the primary cilia and plays a crucial role in the closure of the optic fissure. Both disorders therefore involve disruption of primary cilia function which may explain their association. [ABSTRACT FROM AUTHOR]

This review summarizes the impact of systemic and ocular inflammatory disorders on diabetes mellitus (DM) and diabetic retinopathy (DR). Local inflammation is a key pathology in diabetic retinopathy (DR) and is also an evolving target for clinical therapy. The legacy effects of local inflammation at the intracellular level make DR a persistent self-driven vicious process. Ocular inflammation is accompanied as well as incited by systemic inflammation due to diabetes mellitus (DM) itself. Over the years, a multitude of studies have evaluated the impact of systemic inflammatory disorders (SIDs, like rheumatoid arthritis, lupus, psoriasis, etc.) and anti-inflammatory drugs prescribed for managing them on manifestations of DM. Recent studies have indicated increased insulin resistance to be a result of chronic inflammation, and the anti-inflammatory drugs to have a protective effect towards DM. Very few studies have evaluated the impact of SIDs on DR. Furthermore, the evidence from these studies is conflicting, and while local anti-inflammatory therapy has shown a lot of clinical potential for use in DR, the results of systemic anti-inflammatory therapies have been inconsistent. The impact of local ocular inflammation due to uveitis on DR is a crucial aspect that has not been evaluated well at present. Initial pre-clinical studies and small-sized clinical reports have shown a strong and positive relationship between the presence of uveitis and the severity of DR as well as its progression, while larger cross-sectional patient surveys have refuted the same. The long term impact of ocular inflammation due to uveitis on DR needs to be studied while adjusting for confounders. [ABSTRACT FROM AUTHOR]

Purpose: To explore the relationship between gut microbiome, gut mycobiome, and intraocular (aqueous humor) microbiome dysbiosis in people with type 2 diabetes (T2DM) and diabetic retinopathy (DR)., Design: Multiple case-control studies., Methods: We evaluated three groups of people: healthy controls (HC), people with T2DM without retinopathy, and those with DR. The study samples included fecal matter (30-50 g) and aqueous humor (0.05-0.1 mL). After amplicon sequencing, we analyzed microbiome profiles (V3-V4 region of bacterial 16S rRNA gene) and mycobiome (ITS2 region of fungal rRNA gene). The main outcome measures were relative abundance, α and β diversity, and dysbiotic bacteria and fungi, analyzed based on the inferred functions of the taxa., Results: We recruited 82 people for gut microbiome (30 HC, 24 DM, and 28 DR); 75 people for gut mycobiome (30 HC, 21 DM, and 24 DR); and 12 people for aqueous humor microbiome (4 each HC, DM, and DR) studies. Generally, there was an increased abundance of pro-inflammatory and pathogenic microorganisms and a decreased abundance of anti-inflammatory and probiotic microorganisms. The differences were higher between HC and DM/DR than between DM and DR. In aqueous humor, there was a wider separation in microbiome profiles of people with DR than their gut microbiome., Conclusion: The gut and aqueous humor microbiota of people with diabetes and DR may differ from those without diabetes. Given these unique observations in individuals living in one region of India, further research involving people from different regions is required to identify indices for possible regional or global use., (Copyright © 2024 Copyright: © 2024 Indian Journal of Ophthalmology.)

Purpose: To determine macular pigment (MP) density scores in healthy Indians and examine correlations with demographic and lifestyle variables., Methods: We observed 484 Indians without an ocular pathology. Body mass index (BMI) and self-reported lifestyle factors (sunglasses usage, physical activity, and smoking) were noted. MP density was assessed as the threshold of perception of the shadow of their macular pigments on their retina using a new MP assessment tool (MP-eye). Lutein and zeaxanthin intake was assessed using a prevalidated questionnaire regionally designed for the Indian diet. Clusters of participants were created for statistical analysis based on MP-eye scores secondarily to detect any relevant effects in very low, low, medium, and high ranges of MPs., Results: Data analyzed included 235 males and 249 females with mean age of 36.1 ± 12.9 years (range, 14-72). The median MP-eye score was 6 (range, 0-10, with 10 being high). Most were non-smokers (413, 85.3%) and did not use sunglasses (438, 90.5%), and 314 (64.9%) had low physical activity. Diabetes was present in 62 participants (12.8%) and hypertension in 53 (10.9%). Advancing age (r = -0.209; P < 0.000) and BMI (r = -0.094; P = 0.038) had weak negative correlation with MP-eye scores. Hypertension was less prevalent (7/88) in the cluster with the highest median MP-eye score (P = 0.033). Dietary intake of MPs and other lifestyle factors did not correlate significantly with MP-eye score overall or when analyzed in clusters., Conclusions: MP-eye scores of an Indian population were normally distributed. Higher age, high BMI, and presence of hypertension were weakly associated with lower MP-eye scores. The impact of diet on MPs requires further evaluation., Translational Relevance: This normative regional database enables risk stratification of macular degeneration.