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Context The clinical effects of classical 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency are insufficiently defined due to a limited number of published cases. Objective To evaluate an integrated steroid metabolome and the short- and long-term clinical features of 3βHSD2 deficiency. Design Multicenter, cross-sectional study. Setting Nine tertiary pediatric endocrinology clinics across Turkey. Patients Children with clinical diagnosis of 3βHSD2 deficiency. Main Outcome Measures Clinical manifestations, genotype-phenotype-metabolomic relations. A structured questionnaire was used to evaluate the data of patients with clinical 3βHSD2 deficiency. Genetic analysis of HSD3B2 was performed using Sanger sequencing. Novel HSD3B2 mutations were studied in vitro. Nineteen plasma adrenal steroids were measured using LC-MS/MS. Results Eleven homozygous HSD3B2 mutations (6 novel) were identified in 31 children (19 male/12 female; mean age: 6.6 ± 5.1 yrs). The patients with homozygous pathogenic HSD3B2 missense variants of > 5% of wild type 3βHSD2 activity in vitro had a non-salt–losing clinical phenotype. Ambiguous genitalia was an invariable feature of all genetic males, whereas only 1 of 12 female patients presented with virilized genitalia. Premature pubarche was observed in 78% of patients. In adolescence, menstrual irregularities and polycystic ovaries in females and adrenal rest tumors and gonadal failure in males were observed. Conclusions Genetically-documented 3βHSD2 deficiency includes salt-losing and non-salt–losing clinical phenotypes. Spared mineralocorticoid function and unvirilized genitalia in females may lead to misdiagnosis and underestimation of the frequency of 3βHSD2 deficiency. High baseline 17OHPreg to cortisol ratio and low 11-oxyandrogen concentrations by LC-MS/MS unequivocally identifies patients with 3βHSD2 deficiency.

Background/Purpose: To evaluate the relationship between refractive error and vision-related quality of life in 16-year-old students in Taiwan. Methods: A cross-sectional study was designed for 16-year junior-high-school students in Taiwan. Myopia was defined as a spherical refractive error (SRE) < −0.50 D, hyperopia as SRE > +1.0 D, and emmetropia as SRE −0.5–+1.0 D in the better eye. Vision-related quality of life was assessed using the Taiwan Chinese version of the 25-Item National Eye Institute Visual Functioning Questionnaire. Results: Of the 688 participants, 466 (68%) had myopia and 22 (3%) had hyperopia. In logistic-regression models adjusted for gender, parents’ education, family income, and parental refractive error, myopia was an independent risk factor of poorer vision-related quality of life for both near vision (odds ratio 1.73, 95% confidence interval 1.22–2.45) and distance vision (odds ratio 3.11, 95% confidence interval 2.23–4.35). Hyperopia was not associated with near- or distance-vision difficulty. Conclusion: In this study population, myopia was associated with difficulties in near and distance vision compared to emmetropia. Further studies are needed to confirm our findings in other populations.

Purpose Treatment of glaucoma has increasingly favored better intraocular pressure (IOP) lowering efficacy and safety of topical medications. The introduction of newer ocular hypotensive drugs (OHDs) has led changes in the prescribing patterns and treatment approaches. This study aimed to investigate the prescribing patterns, trends, and corresponding expenditures of OHDs in Taiwan over an 11-year period from 1997 to 2007. Patients and methods A nationally representative sample of 1 million ambulatory visits from the National Health Research Institute data sets was used. Patients with glaucoma who aged ≥18 years were identified with ICD-9-CM and A230 codes. Six categories of OHDs were used to describe the rates, patterns, expenditures, and changes of annual prescriptions for glaucoma patients. Results The number of OHD prescriptions has tripled during the 11 years. Although the prescribing trend was being away from monotherapy with β-blockers, this class remained the most commonly used OHD up to 2007. Prostaglandin analogs were the second most frequently prescribed OHDs since 2000. Changing prescribing patterns and increased patients were the main contributors to the rise in OHD expenditures. Part of increased expenditure was likely offset by reduced needs for laser and surgical interventions. Conclusions The prescriptions of OHDs are shifting to newer categories and combination therapy. These findings provided insights into recent trends in management of glaucoma patients in Taiwan and implied a similar trend toward recent clinical reports and practices recommendations in the guidelines.

Purpose Long-acting insulin analogues were developed to facilitate consistent glycemic control without excessive hypoglycemia. However, structural modifications of the insulin molecule can alter biological responses and binding characteristics with specific receptors. The aim of this study was to estimate the risk of sight-threatening diabetic retinopathy (STDR) associated with treatment using long-acting insulin analogues compared with intermediate-acting insulin in patients with type 2 diabetes mellitus (T2DM). Methods A retrospective cohort consisting of patients with T2DM aged 20 years of age and older with newly initiated treatment with long-acting insulin analogues (glargine and detemir) and intermediate-acting human insulin was identified from the National Health Insurance database between January 2004 and December 2006 and was subdivided into different cohorts. The risk of the development of STDR was determined by Cox regression models and compared between different cohorts. Findings Of the 46,739 eligible patients, initiators of insulin glargine, insulin detemir, and neutral protamine Hagedorn (NPH) insulin were identified for comparison using propensity-score matching methods. Long-acting insulin analogues were not associated with changed risk for STDR by intention-to-treat and time-varying use approaches between either matched or unmatched cohorts. Implications The strategies that aim at preventing diabetic retinopathy by treating T2DM patients with long-acting insulin analogues remain further prospective studies with longer follow-up period to validate our observations within an appropriate dosage range and to further evaluate the safety of long-acting insulin analogues on reducing the progression of diabetic retinopathy.

To assess the relationships between refractive error and ocular and general parameters in Taiwanese junior high school students and to identify the predictive factors associated with the changes in refractive error. This was a prospective, school-based study. A total of 687 students (357 boys and 330 girls) from a municipal junior high school in Taipei were enrolled. The students’ refractive status, intraocular pressure, and ocular parameters were measured first in 2010 and again 1 year later. Data were analyzed using multiple linear regression models and generalized estimating equations (GEEs). Significant differences were found between the baseline (2010) and 1-year follow-up (2011) mean anterior chamber depths, mean axial lengths, and mean horizontal and vertical corneal refractive powers. GEE models revealed that vertical and horizontal corneal refractive powers, axial length, and anterior chamber depth were significantly associated with refractive error change. Students with a longer axial length, steeper corneal radius, and shallower anterior chamber depth had an increased risk of myopic refractive errors.

The aim of this study was to report cases that had used mini-scleral lenses to manage keratoconus and post-laser-assisted in situ keratomileusis (LASIK) ametropia and keratectasia. The first patient was a 32-year-old man who came to our clinic seeking to correct his vision. Following the LASIK procedure, his refraction gradually shifted toward hyperopia. He initially tried wearing spectacles and traditional rigid gas permeable (RGP) lenses, neither of which showed improvement. The second patient was a 28-year-old woman who complained of gradually worsening vision in her right eye after having received LASIK. She was diagnosed with corneal ectasia after a complete ophthalmic examination. She tried wearing spectacles and soft contact lenses, but neither showed any improvement. The third patient was a 29-year-old man with a long history of poor vision. He was first diagnosed with keratoconus in our clinic. He initially tried wearing a Rose K contact lens for the keratoconus in his right eye, but the lens rode low. After the initial treatment attempts, all three patients tried mini-scleral lenses, and their visual acuity improved to between 20/50 and 20/20. They were all able to wear the lenses for more than 10 hours a day without feeling any discomfort. In conclusion, mini-scleral lenses provide better comfort and vision in patients with keratoconus and post-LASIK keratectasia and ametropia.

Objectives The purpose of this study was to assess visual impairment and quality of life (QOL), the relationship between visual function and health-related and vision-related QOL, and to identify factors significantly impacting QOL for glaucoma patients. Methods One-on-one interviews of 280 glaucoma patients at a regional hospital in Taiwan from 1 April 2005 to 30 September 2005. Data collected included demographics, clinical examinations and treatment status. QOL data collected utilized the Chinese (Taiwanese) version of the Medical Outcomes Study Short-Form 36 Health Survey (SF-36) and the National Eye Institute Visual Function-25 (NEIVFQ-25). Results The majority of study participants had open-angle glaucoma (54.3%) and were classified as moderate stage (33.6%). The higher the health-related QOL scores for both questionnaires, the fewer difficulties experienced by the patients. Moderate correlation was found between the SF-36 and NEIVFQ-25 subscales and visual function. Significant predicting factors for the SF-36 were gender, age, employment status, presence of systemic disease, better-eye visual acuity and better-eye mean defect. For the NEIVFQ-25, these were general vision, near and distance activities, colour vision and peripheral vision scores. Conclusions A combination of demographic data, clinical examination and QOL questionnaires may help clinicians better ascertain the impact of disease severity on glaucoma patients' QOL. This information may help in patient education, treatment compliance and selection of treatment options.

Objective: To evaluate the association between the development of sight-threatening diabetic retinopathy (STDR) and antihypertensive drugs (AHDs) use among type 2 diabetic patients with concomitant hypertension. Methods: Type 2 diabetic patients aged 20-100 years who had at least one prescription for AHDs between 2000 and 2011 were identified from the Longitudinal Health Insurance Database (LHID) 2005. The incidence rates of STDR were followed and Cox proportional hazard models were used to analyze the risk associated with AHDs. Results: Users of angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs) were associated with a significantly higher risk than users of calcium channel blockers (CCBs), independent of baseline characteristics. After adjusting for time-varying use of concomitant medications for propensity score-matched or -unmatched cohorts, the results showed that patients receiving ACEIs/ARBs and CCBs were associated with a significantly greater risk compared with β-blocker users. Conclusions: Our study did not support a superiority of ACEIs/ARBs and CCBs over β-blockers for lowering the progression of diabetic retinopathy.

HSD3B catalyzes the synthesis of δ4 steroids such as progesterone in the adrenals and gonads. Individuals lacking HSD3B2 activity experience congenital adrenal hyperplasia with imbalanced steroid synthesis. To develop a zebrafish model of HSD3B deficiency, we characterized 2 zebrafish hsd3b genes. Our phylogenetic and conserved synteny analyses showed that the tandemly duplicated human HSD3B1 and HSD3B2 genes are coorthologs of zebrafish hsd3b1 on chromosome 9 (Dre9), whereas the gene called hsd3b2 resides on Dre20 in an ancestral chromosome segment, from which its ortholog was lost in the tetrapod lineage. Zebrafish hsd3b1(Dre 9) was expressed in adult gonads and headkidney, which contains interrenal glands, the zebrafish counterpart of the tetrapod adrenal. Knockdown of hsd3b1(Dre 9) caused the interrenal and anterior pituitary to expand and pigmentation to increase, resembling human HSD3B2 deficiency. The zebrafish hsd3b2(Dre 20) gene was expressed in zebrafish early embryos as maternal transcripts that disappeared 1 day after fertilization. Morpholino inactivation of hsd3b2(Dre 20) led to embryo elongation, which was rescued by the injection of hsd3b2 mRNA. Thus, zebrafish hsd3b2(Dre 20) evolved independently of hsd3b1(Dre 9) with a morphogenetic function during early embryogenesis. Zebrafish hsd3b1(Dre 9), on the contrary, functions like mammalian HSD3B2, whose deficiency leads to congenital adrenal hyperplasia.

IMPORTANCE The prevalence of diabetic retinopathy (DR) is high in individuals with diabetes mellitus. Published estimates for sight-threatening DR (STDR) prevalence range widely. There is a need for precise contemporary estimates of the prevalence and incidence of STDR for providing optimal strategies of clinical management in Taiwan. OBJECTIVE To determine the precise contemporary estimates of the prevalence and incidence of STDR in patients with type 2 diabetes mellitus in Taiwan. DESIGN, SETTING, AND PARTICIPANTS Data were collected from a representative database, the Longitudinal Health Insurance Database 2005, from 2005 to 2011, on a total of 2926 incident cases of patients with STDR among 63,582 patients with type 2 diabetes. Sight-threatening DR was defined as clinically significant macular edema, severe nonproliferative DR, or proliferative DR according to the classification of the Early Treatment Diabetic Retinopathy Study research group. Sex-specific and age-adjusted incidence and prevalence rates of STDR were analyzed for patients with type 2 diabetes and STDR identified using International Classification of Diseases, Ninth Revision, Clinical Modification codes and procedure codes. MAIN OUTCOMES AND MEASURES Procedure codes were used to determine the diagnosis of STDR. RESULTS The number of incident cases of STDR increased in line with the increasing diabetic population during 2005-2011. Sex differences in the age-adjusted incidence rates were observed, showing a declining trend from 10.84 (95% CI, 10.69%-10.99%) to 6.00 (95% CI, 5.86%-6.14%) per 1000 person-years for women (P < .001) contrasting with an increasing trend in men, from 14.86 (95% CI, 14.71%-15.01%) to 21.89 (95% CI, 21.76%-22.02%) per 1000 person-years (P < .001). The age-adjusted prevalence rates of STDR were in decreasing trends for both sexes, with a mean of 2.75% for women and 2.87% for men. Apart from apparent sex differences in prevalence rates of STDR, increasing trends were observed among younger patients (aged

Background/Purpose This study aims at evaluating the relationship between visual impairment and health-related quality of life (QoL) by identifying factors that affect the EQ-5D index score and Visual Functioning Questionnaire (VFQ) global score, and determining whether the VFQ-25 scores and the European Quality of Life-5 Dimensions (EQ-5D) scores are correlated. Methods This cross-sectional study comprised 318 patients aged 40 years or more presenting with best corrected visual acuity (BCVA) of 20/40 or worse in the better eye.Patients received comprehensive ophthalmologic examinations, and were administered the National Eye Institute VFQ-25 and the EQ-5D instruments. A higher VFQ-25 score indicates a better QoL and, after conversion of the EQ-5D scores to an index score, a higher EQ-5D index score indicates a better QoL. Results On multivariate analysis of the EQ-5D index scores, women and those with arthritis were found to have significantly worse QoL, and the EQ-5D index score was increased by every unit increase in BCVA or mean deviation. Multivariate analysis of the VFQ-25 scores revealed that a history of heart disease, arthritis, and eye diseases, such as age-related macular degeneration or diabetic retinopathy, had significant negative effects on patients' QoL, and VFQ-25 global score was decreased by every unit increase in logMAR. According to this analysis, patients' QoL was improved by each unit increase in BCVA or mean deviation. The correlation between the two questionnaires was only weak to moderate. Conclusion Visual impairment was associated with lower QoL, as assessed by either questionnaire in Taiwanese patients.

PURPOSE This study was conducted to describe a case of atypical retinitis pigmentosa initially diagnosed with primary open angle glaucoma. METHODS Complete ophthalmologic examination, visual field examination, electroretinogram, and Heidelberg Retinal Tomograph were performed. RESULTS Visual field examination showed arcuate defects extending to large temporal defects OU. Electroretinogram showed significant abnormalities with reduced b wave amplitudes and prolonged implicit times. Heidelberg Retinal Tomograph revealed a small central cup with no neuroretinal rim thinning or nerve fiber layer dropout OU. CONCLUSIONS The present report suggests that visual field defects atypical for glaucoma should be carefully scrutinized for other etiologies.

Purpose To present a case in which an RK4 lens was fitted for a patient who developed flap striae resulting from laser-assisted in situ keratomileusis (LASIK). Methods Case report. Results A 44-year-old man underwent uncomplicated LASIK procedure for bilateral myopia and astigmatism. Visually significant flap striae (OS>OD) were noted postoperatively. The flaps were relifted, refloated, and stretched twice in each eye. In addition, OD enhancement laser treatment was performed. Nevertheless, decreased best-corrected visual acuity (OS>OD) persisted. One month after LASIK, the patient was referred to our office for a second opinion and further evaluation. To avoid additional manipulation of the flaps, we used an RK4 lens fitting to achieve a final corrected visual acuity of 20/20 OU. Conclusions Persistent, visually significant flap striae following flap, refloating, stretching, and smoothing techniques can make LASIK patients unhappy. An RK4 lens fitting is an alternative method for correcting postoperative irregular astigmatism and to achieve the best-corrected visual acuity.

A case of an “exploding” cataract (an iatrogenic posterior capsular rupture) following Nd:YAG laser iridectomy is described. Rapid cataract development was observed in the right eye of a 76-year-old woman following an iridectomy. B-scan ultrasonography documented cortical debris in the vitreous cavity. The patient underwent an extracapsular cataract extraction and intraocular lens implantation. During the cataract extraction, a posterior capsular tear extending from the 10-o'clock to the 4-o'clock position was noted, through which fluffy cortical material was floating in the vitreous. [Ophthalmic Surg Lasers Imaging 2003;34:310–311.]