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er instrument vision screener does not give any recommendation during screening, consider vision- or life-threatening pathology and refer.

Autosomal recessive bestrophinopathy (ARB) is a disease that results from the mutations in the

gene. It is characterized by multifocal yellowish lipofuscin deposits, cystoid macular edema, and subretinal fluid. Among approximately 270

mutations, only 40 that include both heterozygous and homozygous mutations are associated with ARB. However, very few ARB-related mutations have been reported in the Japanese population. Therefore, in this study, we aimed to identify

mutations and describe the genotype-phenotype relationship in Japanese dizygotic twins presenting with ARB.

We performed clinical examinations in Japanese dizygotic twin patients (male 29 years) with ARB as well as whole-exome sequencing in seven family members of these twins.

In this study, we have reported on a novel

mutation, the p. Phe151Cys mutation, associated with ARB in Japanese dizygotic twins who had bi-allelic p. Ala160Pro mutations in

. The clinical features observed were binocular abnormalities of the fundus, such as multifocal yellowish subretinal deposits, cystoid macular edema, and subretinal fluid. The full-field electroretinography results were subnormal.

It was indicated that the novel

mutations identified may be strongly correlated with binocular ARB. This study provides significant information of the genotype-phenotype association in Japanese ARB patients. Further, the genetic analysis that we performed was very useful for the differential diagnosis and might have implications in the development of future treatment modalities.

It was indicated that the novel BEST1 mutations identified may be strongly correlated with binocular ARB. This study provides significant information of the genotype-phenotype association in Japanese ARB patients. Further, the genetic analysis that we performed was very useful for the differential diagnosis and might have implications in the development of future treatment modalities.

This prospective study evaluates whether rituximab is a safe and potentially effective treatment for nonparaneoplastic autoimmune retinopathy (npAIR).

Five npAIR patients were enrolled in a Phase I/II, prospective, nonrandomized, open-label, single-center study. All patients received a cycle of 1000 mg intravenous rituximab at weeks 0 and 2, with a second cycle of rituximab 6 to 9 months later. Clinical evaluation was performed at baseline, 6 and 12 weeks after each rituximab cycle, and then every 3 months for a total duration of 18 months. The primary outcome for this study was treatment success based on visual field and full-field electroretinography at 6 months. The secondary outcomes included treatment success at months 12 and 18, drug-related adverse events, changes in visual symptoms, and changes in quality of life.

Two patients met criteria for treatment success one based solely on electroretinography and the other based solely on visual field area, but treatment success was not sustained. Clinical response over the course of the 18-month study showed disease stabilization in three patients and treatment failure in two patients. Selleck Saracatinib There were no severe drug-related adverse events.

This is the first clinical trial prospectively evaluating the effect of rituximab in npAIR and, although rituximab was well tolerated, there was no clear-cut clinical improvement conferred by B cell depletion with rituximab.

This is the first clinical trial prospectively evaluating the effect of rituximab in npAIR and, although rituximab was well tolerated, there was no clear-cut clinical improvement conferred by B cell depletion with rituximab.

Reports of morning glory disc anomaly (MGDA) in India have mostly been case reports. The aim of this study was to describe the demographic and clinical profile of patients with MGDA in South India.

A retrospective review of the medical records of patients with MGDA seen at a tertiary eye hospital in South India over a period of 8 years was carried out. The patients' demographic and clinical data were extracted from the case files and were entered into Epi Info reporting software version 7.2.3.0 and then analyzed.

There were 51 eyes of 44 patients with MGDA comprised 25 (56.8%) males and 19 (43.2%) females. Seven (15.9%) patients had bilateral MGDA. The mean age for females was 5.8 years (standard deviation [SD] 5.8) and for males, 11.2 years (SD 12.1). This difference was not statistically significant with a

= 0.07. The most common ocular associations were strabismus, refractive error, and retinal detachment, whereas the most common systemic associations were cleft lip and cleft palate. Fifty-one percent of eyes were blind at presentation.

Patients with MGDA in India tend to present late with poor visual prognosis. Early diagnosis and prompt treatment of blinding complications are crucial in reducing the risk of irreversible visual loss. Associated systemic abnormalities highlight the importance of a multidisciplinary approach in the management of patients with this condition.

Patients with MGDA in India tend to present late with poor visual prognosis. Early diagnosis and prompt treatment of blinding complications are crucial in reducing the risk of irreversible visual loss. Associated systemic abnormalities highlight the importance of a multidisciplinary approach in the management of patients with this condition.

The purpose of this study was to evaluate whether papilledema severity is associated with specific demographic or clinical factors in patients with idiopathic intracranial hypertension (IIH).

A retrospective cohort study of consecutive IIH patients seen at one tertiary care institution between 1989 and March 31, 2017 was performed. IIH patients were classified as mild (Frisén Grade 1 or 2) or severe (Frisén Grade 4 or 5) based on grading of fundus photographs obtained at first presentation. Demographic and clinical variables including age, body mass index (BMI), gender, visual acuity, Humphrey visual field mean deviation, and cerebrospinal fluid (CSF) opening pressure were extracted from patient medical records for statistical analyses.

A total of 239 patients were included in the study 152 with mild papilledema and 87 with severe papilledema. There was no difference in age, race, BMI, or male gender between the mild and severe papilledema groups. CSF opening pressure was significantly higher in the severe papilledema group (41.