Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.

BACKGROUND: Hereditary maculopathy is a group of clinically and genetically heterogeneous disorders. With distinctive clinical features, subtypes of macular atrophy may correlate with their genetic defects. METHODS: Seven patients from six families with adolescent/adult-onset maculopathy were examined in this clinical case series. A detailed medical history and eye examination were performed. Genomic DNA sequencing was performed using whole exome sequencing or direct sequencing of retinol dehydrogenase 12 (RDH12) coding exons. RESULTS: Seven patients, including one male and six female patients, with pseudocoloboma-like maculopathy had biallelic missense RDH12 mutations. The most common mutant allele found in six of the seven patients was p.Ala269Gly. The average disease onset was at age 19.3 years, and visual acuity ranged from count fingers to 1.0. Most of the patients had mild myopic refraction. Common findings on fundus examination and spectral-domain optical coherence tomography include discrete margins of pseudocoloboma-like macular lesions with variable degrees of chorioretinal atrophy, excavation of retinal tissue and pigmentary changes mainly in the macular area. The electroretinograms were relatively normal to subnormal in all participants. CONCLUSIONS: Progressive macular degeneration with a relatively normal peripheral retina and subsequent development of a pseudocoloboma-like appearance were the main clinical features in patients with compound heterozygous RDH12 missense mutations. Genetic testing may be crucial for early diagnosis and may play a key role in the development of future treatment strategies.

Progressive macular ischemia in retinal vasculopathy with cerebral leukodystrophy.

PURPOSE: We present a case of retinal vasculopathy with cerebral leukodystrophy and review the usefulness of optical coherence tomography angiography (OCT-A) in the assessment of long-term outcomes. CASE DESCRIPTION: A 31-year-old woman developed sudden-onset scotoma in her right eye. Fundus examination and fluorescein angiography showed a patch of soft exudate and capillary nonperfusion in the posterior pole and outside the vascular arcades. OCT-A revealed that the initial vessel density (VD) of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) of the right eye were 32% and 49.2%, respectively. Interestingly, over time, the VD of the SCP and DCP gradually decreased to 23.1% and 26.2%, respectively. In contrast, the initial VD of the SCP and DCP of the left eye were both stable at 44.3% and 56.2%, respectively, and only decreased slightly to 39.3% and 45.7%, respectively, over time. The average VD loss of the SCP and DCP, assessed over 1 year, was 8% and 13%, respectively, in the right eye, and 3% and 6%, respectively, in the left eye. CONCLUSION: Based on this case report, in which we demonstrated a long-term decline in VD of the macula in a young woman with mild retinal vasculopathy with cerebral leukodystrophy, we suggest that there is a potential and valuable role for OCT-A in this rare disease.

Neuroprotection in Glaucoma: Basic Aspects and Clinical Relevance.

Glaucoma is a neurodegenerative disease that affects primarily the retinal ganglion cells (RGCs). Increased intraocular pressure (IOP) is one of the major risk factors for glaucoma. The mainstay of current glaucoma therapy is limited to lowering IOP; however, controlling IOP in certain patients can be futile in slowing disease progression. The understanding of potential biomolecular processes that occur in glaucomatous degeneration allows for the development of glaucoma treatments that modulate the death of RGCs. Neuroprotection is the modification of RGCs and the microenvironment of neurons to promote neuron survival and function. Numerous studies have revealed effective neuroprotection modalities in animal models of glaucoma; nevertheless, clinical translation remains a major challenge. In this review, we select the most clinically relevant treatment strategies, summarize preclinical and clinical data as well as recent therapeutic advances in IOP-independent neuroprotection research, and discuss the feasibility and hurdles of each therapeutic approach based on possible pathogenic mechanisms. We also summarize the potential therapeutic mechanisms of various agents in neuroprotection related to glutamate excitotoxicity.

The association of aldosterone with papillophlebitis and retinal artery occlusion: A case report.

PURPOSE: To explore the association between elevated blood aldosterone levels and papillophlebitis and retinal artery occlusion in a young, healthy woman. CASE DESCRIPTION: A 19-year-old woman with an unremarkable medical history presented with sudden-onset visual loss in the right eye, which lasted for 10 hours. Fundus examination revealed retinal whitening, splinter hemorrhages, disc swelling, and tortuous vessels in the right eye. Optical coherence tomography revealed inner retinal thickening. Fluorescein angiography demonstrated a delayed arteriovenous transit time and delayed filling of the cilioretinal artery circulation. Further workup showed a high aldosterone level and aldosterone-to-renin ratio. The patient was treated with steroid pulse therapy and combined intravitreal injection of dexamethasone implant and aflibercept. Visual acuity was recovered from count finger at initial presentation to 6/15 on the fifth day. For over 2 months, the fundal manifestations gradually subsided. Three months after the episode, her visual acuity further improved to 6/6.7. CONCLUSION: This report emphasizes the potential role aldosterone plays in the complex disease mechanism of retinal vasculopathy. In addition, steroid pulse therapy is more effective when applied in conjunction with combined intravitreal injection therapy for rescuing impaired vision caused by retinal vascular occlusion.

Determinants of post-mydriatic intraocular pressure in phakic eyes with prevalent angle closure diseases.

PURPOSE: This study aimed to identify acute angle closure (AAC) risk following pharmacologic mydriasis and the factors affecting post-mydriatic intraocular pressure (IOP) in a population with a high prevalence of angle closure disease. METHODS: In total, 460 individuals aged ≥ 72 years were enrolled in this cross-sectional community-based screening program. IOP was measured at baseline and 1 hour after mydriasis. Individuals with post-mydriatic IOP spike > 6 mmHg received indentation gonioscopy and IOP-lowering medication. Linear regression analysis was used to identify ocular parameters associated with post-mydriatic IOP elevation. RESULTS: The mean age of participants was 77.8 ± 4.1 years, and 65.4% of them were men. In total, 21 eyes of 16 participants (3.48%) had post-mydriatic IOP spikes (range: 6-13.7 mmHg); among them, 15 eyes had an IOP of > 21 mmHg. None of the participants developed AAC. All eyes with IOP spikes were phakic, except for one with pseudophakic angle closure. Analysis of 381 participants with at least one phakic eye revealed that higher post-mydriatic IOP and IOP changes were associated with narrower angle grading, more extensive peripheral anterior synechiae, shallower central anterior chamber, and thicker lens. According to multiple linear regression analysis, post-mydriatic IOP was independently associated with baseline IOP and factors suggestive of crowded anterior chamber based on gonioscopic findings and central or peripheral anterior chamber depth evaluation in conjunction with lens thickness. CONCLUSION: Post-mydriatic IOP should be measured in phakic eyes with a crowded anterior chamber. Post-mydriatic IOP spikes can be effectively blunted with intervention to prevent AAC.

Prevalence of glaucoma in the elderly population in Taiwan: The Shihpai Eye Study.

BACKGROUND: This study aimed to evaluate the prevalence, characteristics, and the awareness status of glaucoma in an elderly Chinese population. METHODS: A total of 460 individuals aged ≥72 years were enrolled in this cross-sectional community-based eye disease screening program. Glaucoma was diagnosed according to the diagnostic criteria proposed by the International Society of Geographical and Epidemiological Ophthalmology. Characteristics of subjects with primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG) were described and compared between groups using Mann-Whitney U and Fisher's exact tests. RESULTS: Forty subjects were diagnosed with glaucoma, including 17 subjects with POAG, 22 with PACG, and one with secondary glaucoma. The estimated prevalence of glaucoma, POAG, and PACG was 8.7%, 3.7%, and 4.8%, respectively. In total, 71% of the subjects with PACG and 77% of POAG subjects presented with a normal intraocular pressure (IOP) of <19 mmHg. The demographic and ocular characteristics were similar between the two groups; however, subjects with POAG had a longer axial length and smaller vertical disc diameter than those with PACG. Further, 95% of the glaucoma subjects ever visited the eye clinic, but only 32.5% of them were aware of the disease. CONCLUSION: Glaucoma is prevalent in the elderly population in Taiwan, but the diagnostic rate and disease awareness are low. Since most subjects with glaucoma presented with normal IOPs, optic disc evaluation is critical for diagnosing glaucoma in the elderly in Taiwan.

Vitamin D Deficiency Is Associated with Severity of Dry Eye Symptoms and Primary Sjögren's Syndrome: A Systematic Review and Meta-Analysis.

We aimed to examine the correlations between vitamin D deficiency, severity of dry eye symptoms and primary Sjögren's syndrome (pSS) by performing a systematic review and meta-analysis. Online databases (PubMed, Cochrane Library, and Embase) were searched to identify controlled studies comparing (1) severity of dry eye symptoms between participants with and without vitamin D deficiency; and (2) serum vitamin D levels between patients with and without pSS. Eighteen studies were included. Overall, individuals with vitamin D deficiency had shorter tear breakup time (TBUT), lower Schirmer's test scores and higher ocular surface disease index (OSDI) score than those without vitamin D deficiency. Additionally, serum vitamin D levels were found to be lower in pSS than controls. Our findings highlight the importance of vitamin D deficiency in the severity of dry eye symptoms and pSS.

Insulin resistance and serum levels of adipokines in patients with systemic lupus erythematosus: a systematic review and meta-analysis.

BACKGROUND: We aimed to perform a systematic review and meta-analysis of studies assessing the homeostasis model assessment for insulin resistance (HOMA-IR) values, serum adiponectin, leptin and resistin levels in patients with systemic lupus erythematosus (SLE). METHOD: Online databases were searched on 31 March 2019 in order to identify studies comparing HOMA-IR, serum adiponectin, leptin and resistin levels between patients with SLE and controls. A random-effects model was adopted. RESULTS: Fifty-six studies involving a total of 4460 patients with SLE were included. Patients with SLE had significantly higher HOMA-IR values (standardized mean difference (SMD)=0.425; 95% confidence interval (CI) 0.156-0.693; I2=93.8%) than the control group. The serum levels of adiponectin (SMD=0.547; 95% CI 0.219-0.874; I2=90.1%), leptin (SMD=0.843; 95% CI 0.454-1.231; I2=94.4%) and resistin (SMD=0.856; 95% CI 0.199-1.513; I2=96.6%) were all higher among patients with SLE than controls. A meta-regression analysis revealed that the serum resistin level was positively correlated with disease activity (coefficient 0.123; 95% CI 0.051-0.195; p<0.001). CONCLUSION: Patients with SLE have higher HOMA-IR values and serum levels of adiponectin, leptin and resistin than individuals without SLE. The serum level of resistin correlates with SLE disease activity.

Comparison of Clinical Features and Treatment Outcome in Benign and Malignant Lacrimal Sac Tumors.

PURPOSE: To compare the clinical characteristics and treatment outcome between benign and malignant lacrimal sac tumors. METHODS: We retrospectively reviewed the medical records of all patients with pathologically confirmed lacrimal sac lesions from 1995 to 2018 in a tertiary medical center. RESULTS: Among 65 eligible cases, 46 (70.8%) were benign lacrimal sac tumors and 19 (29.2%) were malignant lacrimal sac tumors. Secondary malignancy from nasal or paranasal cancer accounted for 47% of malignant lacrimal sac tumors. The patient's mean age at the time of diagnosis was 60 years in the benign group and 48 years in the malignant group (p=0.03). The most common presenting symptoms were a palpable lump/mass and epiphora in both groups. Palpable mass extending above the medial canthal tendon was noted in 9% of the benign group and in 74% of the malignant group, respectively (p=0.03). The most common presenting symptoms were a palpable lump/mass and epiphora in both groups. Palpable mass extending above the medial canthal tendon was noted in 9% of the benign group and in 74% of the malignant group, respectively (p=0.03). The most common presenting symptoms were a palpable lump/mass and epiphora in both groups. Palpable mass extending above the medial canthal tendon was noted in 9% of the benign group and in 74% of the malignant group, respectively (p=0.03). The most common presenting symptoms were a palpable lump/mass and epiphora in both groups. Palpable mass extending above the medial canthal tendon was noted in 9% of the benign group and in 74% of the malignant group, respectively (. CONCLUSION: Although benign and malignant lacrimal sac tumors may present similar initial symptoms, timely diagnosis and intervention for malignant lacrimal sac lesions are important because they tend to be infiltrating tumors with a poor outcome.

Serum homocysteine, folate, and vitamin B12 levels in patients with vitiligo and their potential roles as disease activity biomarkers: A systematic review and meta-analysis.

BACKGROUND: Hyperhomocysteinemia and folate and vitamin B12 deficiencies have been reported in patients with vitiligo. Investigating the role of these conditions might shed light on the pathogenesis of vitiligo. OBJECTIVE: To perform a systematic review and meta-analysis of studies assessing serum homocysteine, folate, and vitamin B12 levels in vitiligo patients. METHODS: Online databases were searched on May 15, 2018, to identify studies comparing serum homocysteine, folate, and vitamin B12 levels between patients with vitiligo and controls. A random effects model was used. RESULTS: Twenty-two studies involving a total of 1448 patients with vitiligo were included. Patients with vitiligo had significantly higher serum homocysteine levels (standardized mean difference [SMD] 0.550, 95% confidence interval [CI] 0.262-0.838; I2 87.3%) and lower vitamin B12 levels (SMD -0.430, 95% CI -0.738 to -0.121; I2 85.3%) than controls. Serum folate levels were not significantly different between the 2 groups (SMD -0.240, 95% CI -0.592 to 0.111; I2 85.5%). A subgroup analysis revealed that these findings correlated with disease activity. LIMITATIONS: The included studies were heterogeneous. Serum homocysteine levels could be influenced by various factors. CONCLUSION: Patients with vitiligo have higher serum homocysteine levels and lower vitamin B12 levels than individuals without vitiligo.

Delayed onset of pressure-induced interlamellar stromal keratitis in a patient with recurrent uveitis: A case report.

INTRODUCTION: Corticosteroid treatment for uveitis can lead to delayed-onset pressure-induced interlamellar stromal keratitis (PISK), even years after laser in situ keratomileusis (LASIK).A 35-year-old man presented to our clinic after experiencing blurred vision in his left eye for 1 month. For the past month, he had been prescribed topical steroid and anti-glaucomatous medication. He had undergone LASIK for both eyes 5 years earlier, and had suffered uveitis attacks in his left eye over the last 2 years.Slit-lamp examination revealed stromal haziness with interface fluid accumulation in the left eye. The left eye showed an intraocular pressure (IOP) of 35 mm Hg and visual acuity of 6/20. Anterior segment ocular coherence tomography (OCT) confirmed the diagnosis of PISK. Steroid treatment was tapered, and latanoprost treatment was started. One month later, the patient's symptoms resolved, with IOP reduced to 10 mm Hg and visual acuity increased to 6/6 in the left eye. Latanoprost treatment was discontinued to avoid potential uveitis reactivation, and the patient's visual field defect progressed and IOP rebounded. Due to evident glaucomatous damage, trabeculectomy was suggested but was refused. CONCLUSION: Patients with PISK plus uveitis should be treated with a tailored regimen involving corticosteroid and antiglaucomatous medication or surgical intervention based on the individual condition. Early recognition and appropriate treatment may aid in preventing severe visual sequela in such patients.