A Case of Vogt-Koyanagi-Harada Disease in a Patient With Graves Disease

A case of Vogt-Koyanagi-Harada disease (VKH) that developed in a 36-year-old woman with Graves'' disease was described. The patient was treated with Lugol''s solution and presented with bilateral serous retinal detachment. She had also suffered from methimazole-induced hypersensitivity and steroid-induced myopathy. Fluorescein angiography showed multiple leakage points and a lumbar puncture revealed pleocytosis, which was compatible with VKH. High dose steroid pulse therapy was successful. Altered immune regulation associated with drug-induced hypersensitivity may contribute to the development of VKH in patients with Graves'' disease.     

Orbital Necrobiotic Xanthogranuloma Associated With Systemic IgG4 Disease

Purpose: The authors describe 2 cases of orbital xanthogranulomatous disease associated with an increase in IgG4-positive plasma cells, and also examine IgG4 in other types of orbital inflammation.

Methods: Immunohistochemistry for total IgG and IgG4 was performed in 18 cases of orbital inflammation, including chronic dacryoadenitis (n?=?10), necrobiotic xanthogranuloma (n?=?2), xanthogranuloma (n?=?1), idiopathic orbital inflammation/pseudotumor (n?=?4), and fungal infection (n?=?1).

Results: One patient presenting with necrobiotic xanthogranuloma had signs of systemic IgG4 disease. His orbital lesion showed an elevated number of IgG4 positive plasma cells (55%). An orbital xanthogranulomatous lesion in a second patient lacking systemic symptoms also contained a high percentage of IgG4-positive plasma cells (80%). Only 1 case of chronic dacryoadenitis contained prominent IgG4-positive plasma cells (mean 17/hpf).

Conclusions: IgG4-positive plasma cells are relatively rare in nonsclerosing orbital inflammatory lesions. However, systemic disease IgG4 can be associated with necrobiotic xanthogranuloma of the orbit.     

Ocular Surface Microbiota in Diabetic Patients With Dry Eye Disease

PurposeTo investigate the ocular surface (OS) commensal bacteria profiles of patients with diabetes mellitus (DM) and dry eye disease (DED).MethodsIn the present study, subjects were assigned to four groups: 37 to the diabetic mellitus with dry eye disease (DM with DED) group, 22 to the diabetes mellitus (DM)-only group, 34 to the dry eye disease (DED)-only group, and 22 to the control group. Tear fluid was collected using Schirmer''s tear secretion test paper. 16S ribosomal ribonucleic acid (rRNA) gene sequencing was used to analyze the bacterial microbiota.ResultsThe DM with DED group showed the highest operational taxonomic unit (OTU) numbers and alpha diversity and the most different beta diversity. The groups shared the four most abundant phyla, accounting for over 96% of the total abundance. At the genus level, there were 10 types of overlap in the core microbiota in the groups. They showed significant differences between the groups. Additionally, the DM with DED group and the control group showed four unique core genera, respectively. Unclassified Clostridiales and Lactobacillus were the core microbiota members of the DM with DED group, the DM-only group, and the DED-only group, but not the control group.ConclusionsIn the present study, our results showed that the patients in the DM with DED group had a more complex and comprehensive ocular surface microbial composition. To the best of our knowledge, this is the first study to reveal the microbial profile of dry eye disease in patients with diabetes mellitus.     

Binocularity Principles of PRL Development in Patients With Macular Disease

PurposeWe tested the hypothesis that binocularity requirements for correspondence play a role in establishing the preferred retinal locus (PRL) in macular degeneration.MethodsMonocular PRL locations in 202 eyes of 101 patients with macular degeneration (79 ± 10 years) were recorded with the MP1 microperimeter. Corresponding PRLs were those with similar polar angle and distance from former fovea in the better eye (BE) and the worse eye (WE).ResultsOn average, the PRL in the BE was in the foveal proximity at 1.1 ± 0.99 degrees for 55 patients (foveal-driven PRL) and eccentrically at 6.9 ± 3.4 degrees for 46 patients with central lesions involving the fovea (peripheral-driven PRL). For the foveal-driven PRL group, the PRL in the BE was not affected by the status of the WE. In 100% of cases, the monocular PRL in the WE was in a corresponding location either on functioning retina or onto the lesion, or would fall onto the lesion during binocular viewing. For the peripheral-driven PRL group, the PRL location depended on the lesion size in both eyes to maximize correspondence and/or the function of peripheral vision during binocular viewing. In this group, PRL correspondence status was different for those with equal, unequal, or extensive lesions in both eyes.ConclusionsBinocularity requirements for correspondence play an important role in determining the PRL location. We formulated two principles based on whether the BE has foveal sparing (foveal-driven PRL) or central lesions affecting the fovea (peripheral-driven PRL). The PRL should be evaluated in the framework of binocular viewing.     

对眼表疾病、眼睑炎和干眼症患者的聚集性分析

目的：为眼睑炎和干眼症开发一种基于含有多种客观生理学检查的课题大样本树模型的分类系统。方法：我们评价了513个进行了泪容量、泪流量和泪循环以及干眼症的schirmer试验（眼分泌试验）检查的课题，包括一些健康的和一些眼睑炎和干眼症。用睑板腺油脂压出法测定油脂的容量、粘稠度、蒸发率以及睑板腺排空后的眼睑透照试验等评价睑板腺的功能。我们将这些数据进行了聚集性分析，描绘出分类树图。     

Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion

PurposeTo characterize inheritance, penetrance, and trinucleotide repeat expansion stability in Fuchs endothelial corneal dystrophy (FECD).MethodsOne thousand unrelated and related subjects with and without FECD were prospectively recruited. CTG18.1 repeat length (CTG18.1_L) was determined via short tandem repeat assay and Southern blotting of leukocyte DNA. Multivariable logistic regression and generalized estimating equation models were employed.ResultsThere were 546 unrelated FECD cases (67.6% female; 70 ± 10 years) and 235 controls (63.8% female; 73 ± 8 years; all ≥ 50 years). CTG18.1 expansion (CTG18.1exp+) was observed in 424 (77.7%) cases and 18 (7.7%) controls (P = 2.48 × 10^–44). CTG18.1 expansion was associated with FECD severity (P = 5.62 × 10^–7). The family arm of the study included 331 members from 112 FECD-affected families; 87 families were CTG18.1exp+. Autosomal dominant inheritance with variable expression of FECD was observed, regardless of expansion status. FECD penetrance of CTG18.1 expansion increased with age, ranging from 44.4% in the youngest (19–46 years) to 86.2% in the oldest (64–91 years) age quartiles. Among 62 parent–offspring transmissions of CTG18.1exp+, 48 (77.4%) had a change in CTG18.1_L ≤ 10 repeats, and eight (12.9%) were ≥50 repeats, including five large expansions (∼1000–2000 repeats) that contracted. Among 44 offspring who did not inherit the CTG18.1exp+ allele, eight (18.2%) exhibited FECD.ConclusionsCTG18.1 expansion was highly associated with FECD but demonstrated incomplete penetrance. CTG18.1_L instability occurred in a minority of parent–offspring transmissions, with large expansions exhibiting contraction. The observation of FECD without CTG18.1 expansion among family members in CTG18.1exp+ families highlights the complexity of the relationship between the FECD phenotype and CTG18.1 expansion.     

一例Best病患者卵黄样病变和黄白斑点的晚期进展临床病理相关性

目的：提供一例Best病患者临床病理结果。该患者51岁时的眼底镜检查记录正常。75岁临床诊断为Best病（典型病例多认为是年轻人的黄斑变性）。     

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

PurposeThe purpose of this study was to perform a detailed longitudinal phenotyping of X-linked retinitis pigmentosa (RP) caused by mutations in the RPGR gene during a long follow-up period.MethodsAn Italian cohort of 48 male patients (from 31 unrelated families) with RPGR-associated RP was clinically assessed at a single center (mean follow-up = 6.5 years), including measurements of best-corrected visual acuity (BCVA), Goldmann visual field (GVF), optical coherence tomography (OCT), fundus autofluorescence (FAF), microperimetry, and full-field electroretinography (ERG).ResultsPatients (29.6 ± 15.2 years) showed a mean BCVA of 0.6 ± 0.7 logMAR, mostly with myopic refraction (79.2%). Thirty patients (62.5%) presented a typical RP fundus, while the remaining sine pigmento RP. Over the follow-up, BCVA significantly declined at a mean rate of 0.025 logMAR/year. Typical RP and high myopia were associated with a significantly faster decline of BCVA. Blindness was driven primarily by GVF loss. ERG responses with a rod-cone pattern of dysfunction were detectable in patients (50%) that were significantly younger and more frequently presented sine pigmento RP. Thirteen patients (27.1%) had macular abnormalities without cystoid macular edema. Patients (50%) with a perimacular hyper-FAF ring were significantly younger, had a higher BCVA and a better-preserved ellipsoid zone band than those with markedly decreased FAF. Patients harboring pathogenic variants in exons 1 to 14 showed a milder phenotype compared to those with ORF15 mutations.ConclusionsOur monocentric, longitudinal retrospective study revealed a spectrum disease progression in male patients with RPGR-associated RP. Slow disease progression correlated with sine pigmento RP, absence of high myopia, and mutations in RPGR exons 1 to 14.     

Anemia and Diabetic Kidney Disease Had Joint Effect on Diabetic Retinopathy Among Patients With Type 2 Diabetes

PurposeWhether the association between diabetic kidney disease (DKD) and diabetic retinopathy (DR) in patients with type 2 diabetes mellitus (T2DM) is leveraged by anemia remains unclear. This study is to evaluate the joint effect of DKD and anemia on DR.MethodsData were collected from electronic medical records of 1389 patients with T2DM in the Yiwu Central Hospital of Zhejiang Province from 2018 to 2019. Based on retinal examination findings, patients were classified as without diabetic retinopathy (non-DR), non-proliferative diabetic retinopathy (NPDR), and proliferative diabetic retinopathy (PDR). Odds ratio (OR) from multinomial logistic regression models adjusting for potential risk factors of DR were used to evaluate associations of DKD, renal function measures, and anemia with risk of NPDR and PDR. Path analysis was performed to help understand the association of DKD and hemoglobin (Hb) with DR.ResultsThe study included 901 patients with non-DR, 367 patients with NPDR and 121 patients with PDR. Both high DKD risk and abnormal renal function measures were significantly associated with PDR. Anemia was associated with increased risk of NPDR (OR = 1.75, 95% confidence interval [CI] = 1.18–2.58) and PDR (OR = 3.71, 95% CI = 2.23–6.18). DKD severity and anemia had joint effect on NPDR (OR = 2.29, 95% CI = 1.32–3.96) and PDR (OR = 11.31, 95% CI = 5.95–21.51). These associations were supported by path analysis.ConclusionsDKD severity, abnormal estimated glomerular filtration rate (eGFR), and urinary albumin/creatinine ratio (UACR) were associated with increased risk of DR in patients with T2DM, and anemia had joint effect on these associations. Improving Hb level may decrease the risk of DR in patients with T2DM.     

Hazardous Drinking Among Adults With Diabetes and Related Eye Disease or Visual Problems: A Population-Based Cross-Sectional Survey

Purpose: To estimate the prevalence of problem drinking and related risk behaviors among adults with diabetes and eye disease in the United States. Methods: In a population-based, cross-sectional telephone survey of the noninstitutionalized U.S. adult population (18 years of age or older) conducted in 47 U.S. states in 2002 and 40 U.S. states in 1999, we identified the prevalence of binge drinking (5 or more drinks on an occasion in the last month), drinking and driving in the last month, and binge drinking and concurrent unlocked firearm ownership. We used sample weights to estimate the prevalence and number of individuals reporting each measure in the full U.S. population. Results: In 2002, 130 of 3,670 respondents with diabetes-related eye disease reported binge drinking within the last month (prevalence 4%; 95% confidence interval [CI]: 3%–6%), corresponding to an estimated 116,501 adults in the United States (95% CI: 80,020–152,981). Approximately 0.4% (95% CI: 0.2%–0.9%) of all affected adults, and 0.8% (95% CI: 0.3%–2%) of all affected males, endorsed driving after drinking within the last month, corresponding to an estimated 12,150 Americans with diabetic eye disease who drink and drive (95% CI: 2,414–21,887). An estimated total of 15,356 (95% CI: 2,180–28,533) also reported having a loaded and unlocked firearm at home. Estimates of binge drinking and drinking and driving were at least as high among the 1,854 respondents with diabetes and visual impairment in 1999. Conclusions: Binge drinking occurs in 4%–5% of adults with diabetes and eye disease. Driving after drinking and unlocked gun ownership, while uncommon, also occur among such individuals, who are apt to be at extraordinarily high risk for injury and other alcohol-related complications.