Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.

Background: The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence variants in theATOH7 gene using Sanger sequencing.

Methods: Sanger sequencing of theATOH7 gene was performed on 34 affected individual DNA samples.

The value of keratometry and central corneal thickness measurements in the clinical diagnosis of Marfan syndrome.

Purpose: To explore the utility of keratometry and central corneal thickness (CCT) measurements in diagnosis of Marfan syndrome.

Design: Retrospective chart review of 211 patients referred for ocular examination to rule out Marfan syndrome.

Methods: Patients were categorized into Marfan or control groups using current clinical diagnostic criteria.

Intraoperative relaxed muscle positioning technique for strabismus repair in thyroid eye disease.

Objective: To describe the outcomes of a relaxed muscle technique for treatment of dysthyroid strabismus.

Design: Retrospective consecutive case series.

Participants: Twenty-four patients with thyroid-related orbitopathy (TRO) underwent strabismus surgery using a novel relaxed muscle technique.

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

The SOX2 transcription factor is expressed early in the embryonic stem cells of the blastocyst and later in the neural stem cells. It is a member of the SOX family of proteins that carry a DNA-binding high-mobility group domain and additional domains that regulate embryonic development and cell fate determinations. We surveyed 93 patients with severe eye malformations for mutations in SOX2.

Prevalence of psychosocial disturbances in children with nonorganic visual loss.

Purpose: To report on the prevalence of psychiatric disease and psychosocial stress in children with nonorganic visual loss.

Materials And Methods: Case series of 71 consecutive pediatric patients with a variety of nonorganic visual signs and symptoms. Chart review of ophthalmologic findings and details of medical and social history with main outcome measures of prevalence of psychiatric disease and psychosocial stress.

Relationship between the axis and degree of high astigmatism and obliquity of palpebral fissure.

Purpose: To investigate a possible relationship between the slanting of palpebral fissures and the magnitude and axis of astigmatism in children with astigmatism.

Methods: Cross-sectional study at a referral center of 53 children with astigmatism of more than +1.50 D in at least 1 eye.

Observations on the development and progression of unilateral high myopia.

Purpose: The purpose of this article is to document the rare observation of the development, progression, retinal changes, and results of visual rehabilitation in a young child with unilateral high myopia, as well as additional clinical observations in four very young patients with this condition. We also examine the role of factors such as amount of astigmatism, presence of strabismus, degree of anisometropia, and penalization in the development of optimal vision in these patients.

Materials: A review of patients from 1997-2002 disclosed 33 individuals with a diagnosis of unilateral high myopia.