Delayed diagnosis of Lemierre's syndrome in a patient with severe coronavirus disease 2019: importance of comprehensive oral and neck examination - a case report.

BACKGROUND: Given the widespread prevalence of the coronavirus disease 2019 (COVID-19), oral and neck examinations tend to be avoided in patients with suspected or confirmed COVID-19. This might delay the diagnosis of conditions such as Lemierre's syndrome, which involves symptoms resembling COVID-19-related throat manifestations. CASE PRESENTATION: A 24-year-old man without any underlying conditions was diagnosed with COVID-19 7 days before presentation. He was admitted to another hospital 1 day before presentation with severe COVID-19 and suspected bacterial pneumonia; accordingly, he was started on treatment with remdesivir and meropenem. Owing to bacteremic complications, the patient was transferred to our hospital for intensive care. On the sixth day, the patient experienced hemoptysis; further, a computed tomography (CT) scan revealed new pulmonary artery pseudoaneurysms. Successful embolization was performed to achieve hemostasis. In blood cultures conducted at the previous hospital, Fusobacterium nucleatum was isolated, suggesting a cervical origin of the infection. A neck CT scan confirmed a peritonsillar abscess and left internal jugular vein thrombus; accordingly, he was diagnosed with Lemierre's syndrome. The treatment was switched to ampicillin/sulbactam, based on the drug susceptibility results. After 6 weeks of treatment, the patient completely recovered without complications. CONCLUSION: This case highlights the significance of thorough oral and neck examinations in patients with suspected or diagnosed COVID-19 for the detection of throat and neck symptoms caused by other conditions.

Comparison of combination therapy of prednisolone and cyclosporine with corticosteroid pulse therapy in Vogt-Koyanagi-Harada disease.

PURPOSE: To compare the efficacy and safety of a combination therapy of prednisolone and cyclosporine and corticosteroid pulse therapy in Vogt-Koyanagi-Harada (VKH) disease. STUDY DESIGN: A prospective, multicenter, randomized, non-inferiority trial. METHODS: Patients of new-onset acute VKH disease at 11 centers in Japan between 2014 and 2018 were randomized to a combination (oral prednisolone 60 mg daily with gradual taper-off to 35 mg/day and cyclosporine 3 mg/kg/day) and corticosteroid (methylprednisolone 1000 mg for 3 days followed by oral prednisolone) groups, and were followed for 1 year. RESULTS: Thirty-four were assigned to the combination and thirty-six patients to the corticosteroid group. Recurrence/worsening risk was 0.15 (95% confidence-interval [CI] 0.03-0.27) in the combination group and 0.25 (95% CI 0.11-0.39) in the corticosteroid group, with a risk difference of - 0.10 (90% CI - 0.27 to 0.06), demonstrating non-inferiority of the combination group with a non-inferiority margin of 0.20 (P = 0.0013). Serious adverse events occurred in three patients (two with hyponatremia and one with severe headaches) in the combination group and none in the corticosteroid group. Sunset glow fundus grades and cataract rates at 1 year were 0.57 (95% CI 0.42-71) and 4.3% in the combination group and 0.91 (95% CI 0.78-1.04) and 34.0% in the corticosteroid group, respectively. CONCLUSIONS: Combination therapy was noninferior to corticosteroid therapy with respect to recurrence/worsening risk. Notably, the recurrence/worsening risk, sunset glow fundus grade, and cataract rate were lower in the combination group than in the corticosteroid group.

Surgical outcomes of the anterior versus posterior approach for advancement of the levator aponeurosis in Japanese patients.

PURPOSE: To compare the surgical outcomes of the anterior and posterior approaches for advancement of the levator aponeurosis for aponeurotic blepharoptosis in relation to levator function (LF). METHODS: This retrospective study included 223 eyelids from 125 patients with aponeurotic blepharoptosis. The anterior approach was used for 115 eyelids from 65 patients (anterior group), while the posterior approach was used in 108 eyelids from 60 patients (posterior group). Patients were subdivided into two groups in accordance with their LF (fair: 5-10 mm; good: > 10 mm). Functional success was defined as a margin reflex distance of 2-5 mm without serious complications at 3 months postoperatively. Cosmetic success was defined as the achievement of ≤ 1 mm laterality of the upper eyelid height, ≤ 2 mm laterality of the pretarsal show, and eyelid contour symmetry at 3 months postoperatively. RESULTS: The functional success rates of the anterior and posterior groups were comparable for patients with good LF (78.9% vs 87.7%, p = 0.228), whereas it was better in the posterior group (85.7%) than the anterior group (64.1%) in the total group (p = 0.022) and in patients with fair LF (p = 0.031). The posterior group achieved better cosmetic success than the anterior group regarding upper eyelid height symmetry (p = 0.042) and pretarsal show (p = 0.012). No serious complications occurred during follow-up. CONCLUSIONS: The posterior approach achieved better functional and cosmetic outcomes than the anterior approach, indicating that the posterior approach is more useful in patients with aponeurotic blepharoptosis, particularly for those with only fair LF.

Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population.

Vogt-Koyanagi-Harada (VKH) disease is a systemic inflammatory disorder that affects pigment cell-containing organs such as the eye (e.g., chronic and/or recurrent granulomatous panuveitis). While the exact etiology and pathogenic mechanism of VKH disease are unclear, HLA-DR4 alleles have been documented to be strongly associated with VKH disease in various ethnic groups. Recently, a genome-wide association study (GWAS) found two new genetic risk factors (IL23R-C1orf141 and ADO-ZNF365-EGR2) in a non-HLA region from a Han Chinese population. In this study, we replicated these GWAS findings in a Japanese population. A total of 1,643 Japanese samples (380 cases with VKH disease and 1,263 healthy controls) were recruited. We assessed four single nucleotide polymorphisms (SNPs) shown in previous GWAS: rs78377598 and rs117633859 in IL23R-C1orf141, and rs442309 and rs224058 in ADO-ZNF365-EGR2. A significant allelic association with VKH disease was observed for all of the four SNPs (rs78377598: pc = 0.0057; rs117633859: pc = 0.0017; rs442309: pc = 0.021; rs224058: pc = 0.035). In genotypic association analysis, the minor alleles of IL23R-C1orf141 rs78377598 and rs117633859 had the strongest association with disease susceptibility under the additive model (pc = 0.0075 and pc = 0.0026, respectively). The minor alleles of ADO-ZNF365-EGR2 rs442309 and rs224058 were most strongly associated with disease susceptibility under the dominant model (pc = 0.00099 and pc = 0.0023, respectively). The meta-analysis of the current and previous studies found that all of the four SNPs exhibited a significantly strong association with VKH disease (meta-p < 0.00001: rs78377598, meta-odds ratio (OR) = 1.69; rs1176338, meta-OR = 1.82; rs442309, meta-OR = 1.34; rs224058, meta-OR = 1.33). In summary, our study replicated significant associations with VKH disease susceptibility reported in a previous GWAS. Thus, the IL23R-C1orf141 and ADO-ZNF365-EGR2 loci may play important roles in the development of VKH disease through genetic polymorphisms.

Efficacy of intensity-modulated radiation therapy for optic nerve sheath meningioma.

PURPOSE: The present study examined the efficacy and complications associated with intensity-modulated radiation therapy (IMRT) for optic nerve sheath meningioma (ONSM) in 15 cases and compared visual function before and after treatment. METHODS: Consecutively diagnosed patients with ONSM treated with IMRT were evaluated from 2012 to 2017. We categorized ONSM with three growth patterns (diffuse, fusiform, or globular). Visual acuity, visual fields, and optic disc findings were assessed before and after IMRT. Ocular and systemic complications were evaluated during and after treatment. RESULTS: The 15 patients selected for analysis ranged in age from 33 to 77 years. Post-treatment observation periods were 8 to 57 months. After IMRT, tumor enlargement was not detected in any eyes, and tumor reduction was seen in 2 eyes. At final post-treatment follow-up, eyes with fusiform and globular growth maintained better visual acuity compared with pre-treatment, whereas 2 of 5 eyes with diffuse growth showed reduced vision. Five eyes with no apparent optic disc abnormality maintained better visual acuity compared with pre-treatment, whereas 8 of 10 eyes with disc edema and atrophy remained stable or showed reduced vision. Improvements were seen in all 5 eyes with optic discs negative for pre-treatment abnormalities. Final post-treatment visual field abnormalities improved in 11 eyes. All adverse events identified during IMRT improved rapidly during the treatment period. CONCLUSION: IMRT for the treatment of ONSM achieved improvement and preserved visual function. In particular, early treatment with IMRT before the appearance of optic disc abnormalities can be more effective for improving visual function.

Association Study of ARMC9 Gene Variants with Vogt-Koyanagi-Harada Disease in Japanese Patients.

Purpose: To investigate whether variants in the ARMC9 gene encoding KU-MEL-1 are associated with Vogt-Koyanagi-Harada (VKH) disease in a Japanese population. Methods: We recruited 380 Japanese patients with VKH disease and 744 Japanese healthy controls to genotype seven single-nucleotide polymorphisms (SNPs) in ARMC9. We also performed imputation analysis of the ARMC9 region and 195 imputed SNPs were included in the statistical analysis. Results: We observed an increased frequency of the A allele of rs28690417 in patients compared with controls (P = 0.0097, odds ratio (OR) = 1.46). The A allele had a dominant effect on VKH disease risk (P = 0.011, OR = 1.51). However, these significant differences disappeared after Bonferroni correction (corrected P > 0.05). The remaining 201 SNPs did not show any significant association with disease risk. Conclusions: Our study suggests that ARMC9 variants do not play a critical role in the development of VKH disease.

Influence of fatty deposits in the levator aponeurosis/levator palpebrae superioris muscle on outcomes of aponeurotic repair in a Japanese population.

PURPOSE: To examine a part of the levator aponeurosis/levator palpebrae superioris (LPS) muscle that did not have fatty deposits in patients with aponeurotic blepharoptosis. We also analysed the relation between this length and surgical outcome after transcutaneous aponeurotic repair. METHODS: We measured the vertical length from the distal end of the anterior layer of the levator aponeurosis to the most distal point of fatty deposits in the levator aponeurosis/LPS muscle (non-fatty-deposit length) in 94 eyelids. Surgical success was defined as a postoperative margin reflex distance-1 (MRD-1) of 2.0-5.0 mm at 3 months postoperatively. The eyelids were classified into two groups: a surgical success group (group A, 76 eyelids) and an undercorrected group (group B, 18 eyelids). Group A was subdivided according to the evidence of a fatty deposit (group A1, fat present, 70 eyelids; group A2, fat absent, 6 eyelids). RESULTS: The non-fatty-deposit measurement was significantly longer in group A1 than in group B (p = 0.035). The levator aponeurosis was less advanced in groups A1 and A2 than in group B (both, p < 0.001), and the eyelids in groups A1 and A2 obtained a higher MRD-1 than those in group B (both, p < 0.001). CONCLUSIONS: Eyelids with less fat deposit required less advancement of the levator aponeurosis and obtained more favourable surgical results. Intraoperative findings of eyelids with and without fatty deposits and measuring the non-fatty-deposit length may be useful predictive parameters for outcomes of transcutaneous aponeurotic repair.

Foveal threshold and photoreceptor integrity for prediction of visual acuity after intravitreal aflibercept on age-related macular degeneration.

PURPOSE: To determine whether baseline foveal threshold and photoreceptor integrity can predict best-corrected visual acuity (BCVA) at 12 months after intravitreal aflibercept (IVA) therapy in eyes with neovascular age-related macular degeneration (AMD). PATIENTS AND METHODS: We evaluated 25 eyes of 25 patients with treatment-naïve neovascular AMD who received IVA once a month for 3 months, followed by once every 2 months for 8 months. BCVA, integrity of the external limiting membrane (ELM) or the ellipsoid zone (EZ) of the photoreceptors, and retinal sensitivity were determined before (baseline) and at 6 and 12 months after initial IVA. The average threshold foveal sensitivity and mean deviation within the central 10° were determined by Humphrey central 10-2 perimetry. Correlations between BCVA at 12 months and integrity of the ELM or EZ, foveal threshold, and mean deviation at each visit were determined. RESULTS: At 12 months, BCVA improved significantly from 0.20±0.23 to 0.10±0.22 logMAR (logarithm of the minimum angle of resolution) units, and foveal threshold and mean deviation improved significantly from 29.0±5.1 and -3.38±3.10 dB to 32.6±3.2 and -1.64±2.10 dB, respectively (P=0.0009 and P=0.0021). At baseline, both foveal threshold and integrity of the ELM were significantly correlated with BCVA at 12 months (P=0.0428 and P=0.0275). CONCLUSION: These results indicate that both integrity of the ELM and foveal threshold at baseline can predict BCVA after treatment for neovascular AMD. There is a possibility that these parameters can predict the efficacy of IVA in each case.

[SIGNIFICANT, TRANSIENT VISUAL DISTURBANCE AFTER LAPAROSCOPIC RADICAL PROSTATECTOMY].

Visual disturbance following non-ophthalmologic surgery under general anesthesia is rare but can be devastating both socially and medicolegally. Immediate salvage intervention as well as prevention is of utmost importance since this can be a serious blow to patient's functional outcome postoperatively. We experienced a case of temporary but significant visual disturbance right after transperitoneal laparoscopic radical prostatectomy for localized prostate cancer. We need to raise our levels of vigilance to this condition since it can be avoided and prevented with immediate therapeutic intervention and decent clinical awareness.

Effects of photodynamic therapy plus intravitreal aflibercept with subtenon triamcinolone injections for aflibercept-resistant polypoidal choroidal vasculopathy.

PURPOSE: To evaluate the outcome of triple therapy of photodynamic therapy combined with injections of intravitreal aflibercept (IVA) and subtenon triamcinolone acetonide for polypoidal choroidal vasculopathy (PCV) resistant to IVA. METHODS: A retrospective chart review at a single institution was conducted to identify patients with PCV resistant to treatment with IVA who were switched to treatment with triple therapy. In total, 13 eyes from 13 patients were included in the study. Demographic data, visual acuities, central retinal thickness (CRT) and height of pigment epithelial detachment (PED) on optical coherence tomography (OCT), complications, and number of injections were reviewed. RESULTS: The patients had a mean age of 68 years (range 53-83). The number of prior injections with IVA ranged from 5 to 10. At 12 months follow-up after triple therapy, there was a significant improvement in visual acuity (P = 0.0039), a significant decrease in CRT (P = 0.003), and a significant reduction of the height of PED (P = 0.015). Only one patient had retinal pigment epithelium tear. CONCLUSIONS: Triple therapy improved visual and anatomical outcomes in patients with PCV with recurrent or resistant retinal fluid and PED after multiple injections with IVA.

Reduced Blood Serotonin Levels in Chronic Central Serous Chorioretinopathy.

PURPOSE: To evaluate blood serotonin (5-hydroxytryptamine [5-HT]) levels in patients with chronic central serous chorioretinopathy (CSC). DESIGN: A case-controlled retrospective study. PARTICIPANTS: Forty-nine patients with CSC and 30 age-matched control subjects. METHODS: Blood 5-HT levels were measured using high-performance liquid chromatography. MAIN OUTCOME MEASURES: Blood 5-HT levels in patients with acute or chronic CSC were measured at the initial visit and compared with those in controls. RESULTS: The blood 5-HT level (98.2±27.5 ng/ml) in patients with chronic CSC was significantly lower than those in patients with acute CSC (122.5±23.9 ng/ml, P = 0.0081) and controls (128.5±35.8 ng/ml, P = 0.0013). After adjusting for covariates, patients with decreased blood 5-HT levels were found to be more likely to develop chronic CSC (odds ratio, 0.97; 95% confidence interval, 0.95-0.99; P = 0.009). CONCLUSIONS: These results suggest that serotonin may have a role in chronic CSC pathogenesis and is associated with disease progression.

Atypical presentation of primary intraocular lymphoma.

BACKGROUND: In 2014, Pang et al. reported three cases with vitelliform submaculopathy as a preceding lesion of primary intraocular lymphoma (PIOL). Here, we report a case with an atypical presentation of PIOL who initially presented with vitelliform submaculopathy, vitreous haze and preripheral retinal focus. CASE PRESENTATION: A 73-year-old female initially visited another hospital with a chief complaint of acute reduced vision in the right eye. Funduscopic examination of the right eye showed a yellowish retinal lesion at the fovea with vitreous haze and retinal foci scattered in the peripheral region. Spectral-domain optic coherence tomography (SD-OCT) revealed a hyperreflective subretinal debris above the retinal pigment epithelium (RPE) at the fovea, suggesting vitelliform submaculopathy. Vitrectomy was performed to improve visualization of the retinal lesions and for examination of PIOL. Vitreous cytology was class III and cytokine analysis of vitreous fluid showed increased IL-10 and an IL-10/IL-6 ratio >1, suggesting PIOL. Thereafter, there was a sub-RPE infiltration of presumed lymphoma in the nasal retina, and PCR analysis of anterior chamber fluid indicated IgH gene rearrangement, leading to diagnosis of PIOL. Three months later, there was complete disappearance of the vitelliform submacular lesion, with resultant disruption and thinning of the outer retinal layers on SD-OCT images. CONCLUSIONS: Clinicians should be aware of atypical manifestations of PIOL such as vitelliform submaculopathy and peripheral retinal foci with vitreous haze. The patient's unusual funduscopic changes are findings that have not reported in patients with PIOL.

Three-year visual outcomes of intravitreal ranibizumab with or without photodynamic therapy for polypoidal choroidal vasculopathy.

PURPOSE: To compare 3-year visual outcomes after intravitreal ranibizumab (IVR) monotherapy and combination therapy of photodynamic therapy (PDT) with IVR for polypoidal choroidal vasculopathy (PCV). METHODS: Medical records for 45 eyes in 45 patients (34 men, 11 women; mean age, 73.8 years old; range, 62-86 years old) with treatment-naïve PCV were reviewed retrospectively. Of the 45 eyes, 20 were treated with IVR monotherapy and 25 with combination therapy. Mean change in best-corrected visual acuity, numbers of injections of IVR and length of treatment-free period from baseline at month 36 were observed. Adverse events were monitored. RESULTS: The change in visual acuity after combination therapy was significantly better than that after IVR monotherapy (p = 0.0399). At 36 months, improvement in visual acuity was seen in five eyes (25.0%) in the IVR monotherapy group and 13 eyes (52.0%) in the combination therapy group. The treatment-free period was significantly longer in the combination therapy group (p = 0.0008). Additional IVR therapy was required significantly more frequently in the IVR monotherapy group (p = 0.0026). Post-treatment subretinal haemorrhage or retinal pigment epithelium tear occurred only in the IVR monotherapy group, in one eye (5.0%) and one eye (5.0%), respectively. CONCLUSION: Initial therapy consisting of a single session of PDT combined with IVR improves vision in treatment-naïve PCV. Compared with IVR monotherapy, this combination therapy may be more effective for PCV.

Genetic analysis of the aquaporin-4 gene for anti-AQP4 antibody-positive neuromyelitis optica in a Japanese population.

PURPOSE: Neuromyelitis optica (NMO) is an inflammatory demyelinating disorder that generally affects the optic nerve and spinal cord. The etiology of this disease is still uncertain, but autoantibodies to aquaporin-4 (AQP4) are specific and pathogenic for NMO. Recent studies show that AQP4 gene variants are associated with NMO. In this study, we assessed the contribution of AQP4 genetic variants to susceptibility to anti-AQP4 antibody (AQP4-Ab)-positive NMO in a Japanese population. METHODS: The subjects were 16 patients with AQP4-Ab-positive NMO (13 sporadic cases, and 3 familial cases from 2 families) and 255 healthy controls. All coding exons of AQP4 were sequenced and five tag single-nucleotide polymorphisms (SNPs) in AQP4 were genotyped. We also performed an imputation analysis to evaluate the potential association of un-genotyped SNPs in AQP4. RESULTS: Known or novel mutations were not detected in any coding exon regions. The T allele frequency of polymorphism (-810 bp (C/T): rs2075575) of the promoter region in patients with AQP4-Ab-positive NMO was significantly higher than that in controls (50.0 vs 25.7 %, P = 0.0036, Pc = 0.018 odds ratio = 2.89). No other tag or imputed SNPs were significant. CONCLUSIONS: These findings suggest that the T allele of rs2075575 is a risk for AQP4-Ab-positive NMO. However, the results are the opposite of a previous study in the southern Han Chinese population, and therefore further genetic studies are needed to determine the possible contribution of the AQP4 region to development of NMO.

Expression pattern of Ccr2 and Cx3cr1 in inherited retinal degeneration.

BACKGROUND: Though accumulating evidence suggests that microglia, resident macrophages in the retina, and bone marrow-derived macrophages can cause retinal inflammation which accelerates photoreceptor cell death, the details of how these cells are activated during retinal degeneration (RD) remain uncertain. Therefore, it is important to clarify which cells play a dominant role in fueling retinal inflammation. However, distinguishing between microglia and macrophages is difficult using conventional techniques such as cell markers (e.g., Iba-1). Recently, two mouse models for visualizing chemokine receptors were established, Cx3cr1 (GFP/GFP) and Ccr2 (RFP/RFP) mice. As Cx3cr1 is expressed in microglia and Ccr2 is reportedly expressed in activated macrophages, these mice have the potential to distinguish microglia and macrophages, yielding novel information about the activation of these inflammatory cells and their individual roles in retinal inflammation. METHODS: In this study, c-mer proto-oncogene tyrosine kinase (Mertk) (-/-) mice, which show photoreceptor cell death due to defective retinal pigment epithelium phagocytosis, were employed as an animal model of RD. Mertk (-/-) Cx3cr1 (GFP/+) Ccr2 (RFP/+) mice were established by breeding Mertk (-/-) , Cx3cr1 (GFP/GFP) , and Ccr2 (RFP/RFP) mice. The retinal morphology and pattern of inflammatory cell activation and invasion of Mertk (-/-) Cx3cr1 (GFP/+) Ccr2 (RFP/+) mice were evaluated using retina and retinal pigment epithelium (RPE) flat mounts, retinal sections, and flow cytometry. RESULTS: Four-week-old Mertk (-/-) Cx3cr1 (GFP/+) Ccr2 (RFP/+) mice showed Cx3cr1-GFP-positive microglia in the inner retina. Cx3cr1-GFP and Ccr2-RFP dual positive activated microglia were observed in the outer retina and subretinal space of 6- and 8-week-old animals. Ccr2-RFP single positive bone marrow-derived macrophages were observed to migrate into the retina of Mertk (-/-) Cx3cr1 (GFP/+) Ccr2 (RFP/+) mice. These invading cells were still observed in the subretinal space in 18-week-old animals. CONCLUSIONS: Cx3cr1-GFP-positive microglia and Ccr2-RFP-positive macrophages were distinguishable in the retinas of Mertk (-/-) Cx3cr1 (GFP/+) Ccr2 (RFP/+) mice. In addition, Ccr2 expression in Cx3cr1 positive microglia is a feature of microglial activation in RD. Mertk (-/-) Cx3cr1 (GFP/+) Ccr2 (RFP/+) mice enabled observation of microglial activation over time during RD and may be useful for developing inflammation-targeted treatment strategies for RD in the future.

Association between the major histocompatibility complex and clinical response to infliximab therapy in patients with Behçet uveitis.

PURPOSE: Our aim was to investigate whether major histocompatibility complex (MHC) polymorphisms are associated with response to infliximab therapy in Japanese patients with Behçet uveitis (BU). METHODS: We retrospectively reviewed 24 patients (17 men and seven women) treated with infliximab for BU. Of them, ten patients were genotyped as HLA A*2601, and nine as HLA B*5101. Therapeutic response levels in the two groups were compared based on ocular attacks and the Behçet disease ocular attack score 24 (BOS24) over 24 months of treatment. RESULTS: Mean frequencies of ocular attacks at 13-18 and 19-24 months after the start of treatment were significantly higher in the HLA A*2601 group (P = 0.0392 and 0.0177, respectively). Mean BOS24-6 M values for months 1-6, 7-12, 13-18, and 19-24 were also significantly higher in the HLA A*2601 group (P = 0.0459, 0.0150, 0.0394, and 0.0178, respectively). Shortening of the infusion interval was required in eight patients in the HLA A*2601 group but in one only in the HLA B*5101 group. Behçet-disease-related adverse events occurred in eight patients in the HLA A*2601 group and two in the HLA B*5101 group. Nonocular adverse events occurred in four patients in the HLA A*2601 group and none in the HLA B*5101 group. CONCLUSIONS: Although mean change from baseline in the number of ocular attack scores in the HLA A26 and HLA B51 groups seemed to be similar, the HLA-A26 group had a more severe disease course under infliximab therapy for ocular/extraocular involvement. These data suggest that response to infliximab therapy in Japanese patients with BU is partly due to genetic determinants in the HLA complex.

Improved Photoreceptor Function in Male Acute Zonal Occult Outer Retinopathy.

PURPOSE: To describe male acute zonal occult outer retinopathy (AZOOR) patients with improvement of photoreceptor structure and visual function. CASE SERIES: Medical records for eight eyes in seven patients (mean age, 36.9 years; range, 22 to 57 years) with AZOOR were reviewed retrospectively. Of the seven patients, four were treated with high-dose methylprednisolone therapy and three were not treated. All patients presented with photopsias and severe vision loss in the affected eyes. Visual acuity ranged from 0.2 to 1.5 on a Snellen decimal scale and Humphrey visual field testing showed blind spot enlargement or ring scotomas. Fundus and angiographic examinations found no specific abnormalities, leading to a diagnosis of AZOOR. Spectral domain optical coherence tomography showed attenuation of the photoreceptor inner segment ellipsoid zone. Multifocal electroretinography demonstrated that there were decreased responses at the site of the spectral domain optical coherence tomography abnormalities and corresponding visual field loss. Three patients had a spontaneous resolution with restoration of photoreceptor structure and visual function, and four patients had a visual improvement with restoration of photoreceptor structure and visual function after steroid pulse therapy. CONCLUSIONS: These results suggest that male AZOOR patients may have a tendency of visual improvement both with and without treatment.

Serum levels of lipid metabolites in age-related macular degeneration.

Age-related macular degeneration (AMD) is a neurodegenerative disease that causes adult-onset blindness. There are 2 forms of this progressive disease: wet and dry. Currently there is no cure for AMD, but several treatment options have started to emerge making early detection critical for therapeutic success. Analysis of the eyes of Abca4(-/-)Rdh8(-/-) mice that display light-induced retinal degeneration indicates that 11-cis-retinal and docosahexaenoic acid (DHA) levels were significantly decreased as compared with the eyes of control dark-adapted C57BL/6J mice. In addition, exposure to intense light correlated with higher levels of prostaglandin G2 in the eyes of Abca4(-/-)Rdh8(-/-) mice. Intense light exposure also lowered DHA levels in the eyes of wild-type C57BL/6J mice without discernible retinal degeneration. Analysis of human serum from patients with AMD recapitulated these dysregulated DHA levels and revealed dysregulation of arachidonic acid (AA) levels as well (∼32% increase in patients with AMD compared with average levels in healthy individuals). From these observations, we then built a statistical model that included levels of DHA and AA from human serum. This model had a 74% probability of correctly identifying patients with AMD from controls. Addition of a genetic analysis for one of the most prevalent amino acid substitutions in the age-related maculopathy susceptibility 2 gene linked to AMD, Ala(69)→Ser, did not improve the statistical model. Thus, we have characterized a reliable method with the potential to detect AMD without a genetic component, paving the way for a larger-scale clinical evaluation. Our studies on mouse models along with the analysis of human serum suggest that our small molecule-based model may serve as an effective tool to estimate the risk of developing AMD.

Focal choroidal excavation associated with focal retinochoroiditis.

PURPOSE: To describe detailed spectral-domain optical coherence tomography (OCT) findings for two patients with focal choroidal excavation (FCE) associated with focal retinochoroiditis. CASE REPORT: Three eyes from two patients with FCE associated with focal retinochoroiditis were evaluated by funduscopy, fluorescence angiography, indocyanine green angiography, and spectral-domain OCT during follow-up. Both patients with focal retinochoroiditis developed new FCE after oral steroid treatment and two eyes showed regression of the FCE during the follow-up. Both eyes from one patient transformed from the conforming to the nonconforming type and neither of the eyes were stable during the follow-up. Ultimately, all eyes exhibited the conforming-type FCE. CONCLUSIONS: Focal choroidal excavation can be seen as a tomographic phenotype after the treatment of focal retinochoroiditis. Spectral-domain OCT was useful for detecting the development of FCE after the treatment and for observing FCE regression.