The relationships among cycloplegic refraction, keratometry, and axial length in children with refractive accommodative esotropia.

Purpose: To explore the relationships among cycloplegic refraction, keratometry, and axial length in children with refractive accommodative esotropia and to evaluate the feasibility of axial length estimation from the other 2 parameters.

Methods: This is a prospective case series of children ages 4-12 years who were diagnosed with refractive accommodative esotropia, cooperative for keratometry and optical biometry by the IOLMaster, and without amblyopia in the right eye. The right eyes of the first group of patients were used to generate a linear regression formula from cycloplegic refraction, keratometry, and axial length.

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.

We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family. The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.

Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).

Schnyder corneal dystrophy is a rare dominant disorder mostly reported in Western and occasionally Asian populations. This report documents the condition in an affected family from the historically isolated Arabian Peninsula. A child and her mother had central crystalline keratopathy consistent with Schnyder corneal dystrophy.

Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3).

Purpose: To perform linkage analysis on an inbred family with members who exhibit different phenotypic forms of childhood strabismus.

Methods: Prospective clinical examination and linkage analysis.

Results: three of the ten siblings and their cousin each had a different phenotypic form of childhood strabismus: infantile esotropia with convergence excess, esotropia associated with anisometropic amblyopia, unilateral esotropic Duane syndrome, and monocular elevation deficiency.

A randomized, double-blind, placebo-controlled, 8-week study of vilazodone, a serotonergic agent for the treatment of major depressive disorder.

Objective: To evaluate the efficacy, and further establish the safety profile, of oral once-daily vilazodone, a potent and selective serotonin 1A receptor partial agonist and reuptake inhibitor, in the treatment of major depressive disorder (MDD).

Method: This phase 3, randomized, double-blind, placebo-controlled, 8-week study (conducted March 2008-February 2009) enrolled 481 adults with DSM-IV-TR-defined MDD. Patients received vilazodone (titrated to 40 mg/d) or placebo.

The optic nerve head in congenital fibrosis of the extraocular muscles.

Objective: Optic nerve head abnormalities have been reported in some patients with congenital fibrosis of the extraocular muscles (CFEOM). This study prospectively assesses optic nerve head appearance in a consecutive CFEOM cohort.

Methods: All patients with CFEOM referred between 2006 and 2010 and who were mature enough to cooperate with fundus photography were included.

Efficacy of aripiprazole adjunctive to lithium or valproate in the long-term treatment of patients with bipolar I disorder with an inadequate response to lithium or valproate monotherapy: a multicenter, double-blind, randomized study.

Objectives: To evaluate the efficacy and safety of aripiprazole (ARI) adjunctive to lithium (Li) or valproate (Val) (ARI+Li / Val) compared with placebo (PLB) adjunctive to Li or Val (PLB+Li / Val) as maintenance therapy for patients with bipolar I disorder who had an inadequate response to Li or Val monotherapy.

Methods: Patients with a current manic/mixed episode received Li or Val for at least 2 weeks. Those with an inadequate response [Young Mania Rating Scale (YMRS) total score ≥ 16 and ≤ 35% decrease from baseline at 2 weeks] received adjunctive single-blind ARI plus mood stabilizer.

Genetic and genomic analysis of classic aniridia in Saudi Arabia.

Purpose: To determine the genetic and genomic alterations underlying classic aniridia in Saudi Arabia, a region with social preference for consanguineous marriage.

Methods: Prospective study of consecutive patients referred to a pediatric ophthalmologist in Saudi Arabia (2005-2009). All patients had paired box gene 6 (PAX6) analysis (sequencing and multiplex ligation-dependent probe amplification analysis if sequencing was normal).

Biliary stones: an atypical cause of abdominal pain in paediatric age group.

Objective: To identify Paediatric patients with biliary stone disease presenting to a tertiary care hospital in order to determine the etiology, presentation and management.

Methods: Retrospective study of all cases of ultrasonographically proven biliary stones under the age of 15 years from January 1988 to December 2008. Data included their risk factors, complications, management and outcome.

Conditions that can be mistaken as early childhood glaucoma.

Primary congenital glaucoma (isolated goniodysgenesis) has classic phenotypic features such as increased measured intraocular pressure, globe enlargement (buphthalmos) with associated myopia, Descemet membrane tears, corneal haze/scarring with associated astigmatism, iris atrophy, and optic nerve cupping. These signs also occur in developmental glaucoma (anterior segment dysgeneses) with infantile onset. However, similar findings can occur in other pediatric conditions which are sometimes are mistaken as early childhood glaucoma.

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Purpose: To characterize the underlying genetic defect in otherwise healthy Saudi newborns with buphthalmos, including those with iris abnormalities.

Methods: Prospective case series of affected Saudi Arabian probands who were referred for genetic counseling over a 4 year period. All had CYP1B1 sequencing.

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.

Purpose: Congenital fibrosis of the extraocular muscles type I (CFEOM1), the most common CFEOM worldwide, is characterized by bilateral ptotic hypotropia, an inability to supraduct above the horizontal midline, horizontal strabismus (typically exotropia), and ophthalmoplegia with abnormal synkinesis. This distinct non-syndromic phenotype is considered autosomal dominant and is virtually always from heterozygous missense mutations in kinesin family member 21A (KIF21A). However, there are occasional KIF21A-negative cases, opening the possibility for a recessive cause.

Antidepressant-placebo differences in 16 clinical trials over 10 years at a single site: role of baseline severity.

Background: Antidepressant-placebo differences observed in randomized double-blind, placebo-controlled clinical trials have always been relatively small and have further declined during the past three decades. During this same time, a decrease in patient severity of symptoms at baseline has occurred. The current study was designed to examine antidepressant-placebo difference scores and baseline severity of depression over a 10-year period in a sample of depressed patients enrolled at a single clinical trial site.

Pediatric pseudophakic glaucoma following surgery for isolated childhood cataract.

Background And Objective: To report the incidence and risk factors for pseudophakic glaucoma in children who underwent surgery for non-traumatic cataract without other ocular structural abnormality.

Patients And Methods: Institutional retrospective case series (1990 to 2003) of patients younger than 12 years of age who underwent surgery with primary posterior chamber intraocular lens (PC-IOL) implantation for non-traumatic cataract. Patients with post-surgical follow-up of less than 5 years, microcornea, persistent fetal vascular, and/or other significant anterior segment abnormality were excluded.

Are the colors and shapes of current psychotropics designed to maximize the placebo response?

Rationale: Patient expectations are an important aspect of the placebo response. Color and shape of a medication lead to perceptions that an agent is stimulating or calming, strong or weak.

Objectives: We assessed the degree to which central nervous system medications match the perceived drug action and thereby harness the placebo response.

Lack of glaucoma following infantile cataract surgery with primary posterior chamber intraocular lens implantation.

Background And Objective: To determine the incidence of glaucoma following infantile cataract surgery with primary posterior chamber lens (PC-IOL) implantation for isolated non-traumatic cataract.

Patients And Methods: Retrospective institutional medical record review.

Results: Thirty-six eyes of 31 patients were identified.

Why has the antidepressant-placebo difference in antidepressant clinical trials diminished over the past three decades?

The increasing rate of failure of antidepressant clinical trials has led to the assertion that antidepressants do not have meaningful clinical benefits. Our hypothesis was that the decrease in antidepressant-placebo differences in antidepressant clinical trials over the past three decades could be explained by changes in research design features rather than a lack of potency of the antidepressants being tested. We collected data from 130 double blind placebo controlled antidepressant clinical trials conducted between 1981 and 2008 that included 35,122 depressed patients with 23,157 patients assigned to antidepressants and 11,965 assigned to placebo.

Aphakic glaucoma after cataract surgery for isolated nontraumatic pediatric cataract.

Purpose: To compare eyes diagnosed with aphakic glaucoma to those that were not after pediatric cataract surgery (age <12 years) without intraocular lens implantations for isolated (e.g., no microcornea) nontraumatic cataract with at least 5 years follow-up.

The impact of transcatheter atrial septal defect closure in the older population: a prospective study.

Objectives: We sought to prove that device closure of atrial septal defect (ASD) in older patients not only improves cardiac function but also results in symptomatic relief by improving functional class.

Background: Atrial septal defect accounts for approximately 10% of all congenital cardiac defects. It is possible that ASD closure in older patients may derive benefits, though this is not well established.

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

Objectives: To describe a unique pattern of helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation and to highlight how examination of the proband's affected relative allowed appropriate genetic testing.

Design: Interventional family study (ophthalmic examination and candidate gene testing).

Results: The proband (mother), who complained of poor vision since early childhood, had bilateral helicoid subretinal fibrosis mostly involving the macula.

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).

Purpose: To describe later retinal degeneration following childhood cataract surgery without intraocular lens implantation in a consanguineous family with developmental cataract from homozygous p.R56W mutation in CRYAB, a gene that encodes a heat-shock protein (alphaB-crystallin) in both retina and the lens.

Methods: Prospective ophthalmologic examination and venous blood sampling for diagnostic CRYAB sequencing in the 12 available family members (7 siblings and their 2 parents, the siblings' maternal aunt and her son, and the siblings' maternal grandmother).