Gender Diversity on Corporate Boards Associated with Ophthalmology.

Purpose: Enhancing diversity on boards has been linked to greater profitability and innovation. Unfortunately, there remains an underrepresentation of women in executive management and leadership positions in the ophthalmic corporate world. The purpose of these analyses was to examine the gender composition of directors for boards associated with the discipline of ophthalmology.

Systemic diagnostic testing in patients with apparently isolated uveal coloboma.

Purpose: To investigate the frequency and types of systemic findings in patients with apparently isolated uveal coloboma.

Design: Cross-sectional observational study.

Methods: setting: Single-center ophthalmic genetics clinic.

Distinct ocular expression in infants and children with Down syndrome in Cairo, Egypt: myopia and heart disease.

Importance: The study establishes the importance of genetic background for the expression of Down syndrome phenotype.

Objective: To define the ocular manifestations of Down syndrome in infants and children in Cairo, Egypt, a historically isolated region, and compare them with systemic features and with findings in other geographic groups.

Design And Participants: We prospectively studied the ocular status and systemic features of 90 infants and children with Down syndrome and monitored all patients for 3 years.

Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma.

Purpose: To report the association of Duane syndrome with nystagmus and a patterned hyperpigmentation of the retinal pigment epithelium, developmental delay, micro- and pachygyria and craniopharyngioma.

Case Report: We describe a 12-year old girl with developmental delay, hearing loss, cortical micro- and pachygyria, and a cystic craniopharyngioma; her ocular features include unilateral Duane syndrome, monocular nystagmus under binocular conditions, and a patterned hyperpigmentation of the retinal pigment epithelium. Her mother had similar retinal pigment epithelial abnormalities.

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).

We studied 28 individuals from a four-generation Chilean family (ADC54) including 13 affected individuals with cataracts, microcornea and/or corneal opacity. All individuals underwent a complete ophthalmologic exam. We screened with a panel of polymorphic DNA markers for known loci that cause autosomal dominant cataracts, if mutated, and refined the locus using the ABI Prism Linkage Mapping Set Version 2.

Multiple and additive functions of ALDH3A1 and ALDH1A1: cataract phenotype and ocular oxidative damage in Aldh3a1(-/-)/Aldh1a1(-/-) knock-out mice.

ALDH3A1 (aldehyde dehydrogenase 3A1) is abundant in the mouse cornea but undetectable in the lens, and ALDH1A1 is present at lower (catalytic) levels in the cornea and lens. To test the hypothesis that ALDH3A1 and ALDH1A1 protect the anterior segment of the eye against environmentally induced oxidative damage, Aldh1a1(-/-)/Aldh3a1(-/-) double knock-out and Aldh1a1(-/-) and Aldh3a1(-/-) single knock-out mice were evaluated for biochemical changes and cataract formation (lens opacification). The Aldh1a1/Aldh3a1- and Aldh3a1-null mice develop cataracts in the anterior and posterior subcapsular regions as well as punctate opacities in the cortex by 1 month of age.

Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.

Purpose: To map and identify the mutated gene for autosomal dominant cataract (ADC) in a large Chilean family (ADC53).

Design: Experimental study.

Participants: Large Chilean family with ADCs.

A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes.

Purpose: To map and identify the mutated gene for autosomal dominant cataract (ADC) in family ADC4.

Methods: Ophthalmic evaluations were performed on an American family with ADC and a panel of polymorphic DNA sequence-tagged site (STS) markers for known ADC loci and other genome-wide polymorphic markers were used to map the gene; two-point lod scores were calculated. Fine mapping was undertaken in the chromosomal regions of maximum lod scores, and candidate genes were sequenced.

Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.

Purpose: To further elucidate the cataract phenotype, and identify the gene and mutation for autosomal dominant cataract (ADC) in an American family of European descent (ADC2) by sequencing the major intrinsic protein gene (MIP), a candidate based on linkage to chromosome 12q13.

Design: Observational case series and laboratory experimental study.

Methods: We examined two at-risk individuals in ADC2.

Autosomal dominant cataract: intrafamilial phenotypic variability, interocular asymmetry, and variable progression in four Chilean families.

Purpose: To document intrafamilial and interocular phenotypic variability of autosomal dominant cataract (ADC).

Design: Prospective observational case series.

Methods: We performed ophthalmologic examination in four Chilean ADC families.

Infantile cataract in the collaborative perinatal project: prevalence and risk factors.

Objectives: To estimate the prevalence of 4 categories of infantile cataract in subjects surviving the neonatal period in a US cohort, and to investigate risk factors for isolated infantile cataract.

Design: Prospective study of 55 908 pregnancies enrolled in the Collaborative Perinatal Project from 1959 to 1965 at 12 university medical centers.

Methods: We gathered data on demographic, lifestyle, and prenatal and perinatal obstetrical and postnatal factors using a standardized protocol.

Eye disease and care in Latin America and the Caribbean.

In the last decade, health indicators in Latin America and the Caribbean reflect advances. The per capita public expenditure on health care has increased in many countries. Despite these improvements, it is estimated that for every million population in Latin America and the Caribbean, 5,000 are blind and 20,000 are visually impaired; at least 66% of the blindness is attributable to treatable conditions such as cataract.