Raquel Beneish

Visual improvement in Leber congenital amaurosis and the CRX genotype.

Purpose: In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phenotype and genotype of 250 LCA children. We identified a heterozygous CRX mutation in an affected mother and son, and describe the ocular phenotype of the proband from birth through infancy to age 11 years. Methods: Best-corrected Snellen visual acuities, electroretinograms (ERGs), and Goldmann visual fields were measured, while SSCP and direct sequencing were done for genotyping. Results: The proband had congenital nystagmus, amaurotic, paradoxical pupils, and arteriolar narrowing, without a pigmentary retinopathy. The child had very poor fixation and wandering nystagmus at age 5 months, but had measurable vision at age 6 years. Snellen visual acuities were 20/900 at that time, and slowly improved to 20/150 by age 11 years. Perimetry revealed 60° fields with the V4e target at ages 9 and 10 years, with a new 20° inferior island to the III4e target. ERGs at 5 and 8 months were non-detectable, while the photopic ERGs at age 10 years and again at 11 years showed measurable cone a- and b-waves. At age 47, the phenotype of the affected mother consisted of hand motion vision, a pigmentary retinopathy, and non-detectable visual fields and ERGs. We identified a heterozygous CRX mutation, A177?1bp (529delG), in both affected individuals, which is predicted to cause a frameshift and introduces a premature termination codon at position 186. Conclusions: We report a CRX genotype with an ocular phenotype that consists of spontaneous, marked visual improvement in the proband from birth to age 11 years, which is unlike the previous six reports of LCA patients with the CRX genotype.

Herpes Simplex Keratitis and Amblyopia

Herpes simplex keratitis can cause severe loss of vision in children. The findings in five children show that amblyopia is caused by stimulus deprivation and/or anisometropia. Early medical treatment, occlusion therapy, and frequent refractions are crucial for a good visual prognosis.

Optimal compliance for amblyopia therapy: occlusion with a translucent tape on the lens

OBJECTIVE To demonstrate that optimal compliance to amblyopia therapy and a better visual outcome can be achieved by occluding the lens over the preferred eye with a translucent tape. STUDY DESIGN Prospective study of amblyopic children. PARTICIPANTS Eighty-four amblyopic children recruited from 2000 to 2006 at the Montreal Childrens Vision Centre. METHODS A group of bilateral ametropes (mean age 3.8 years) were treated with glasses and occlusion of the sound eye with a translucent tape on the lens over the preferred eye, or an adhesive patch. The translucent tape reduced vision to hand motion at 0.3 m in the sound eye. Patients were divided into 2 groups depending on the treatment received. Group 1 (n = 36) was occluded with a translucent tape, and group 2 (n = 48) with a conventional adhesive patch, later replaced by the translucent tape. Twenty-five previously reported patients, treated with the conventional adhesive patch only, were used as controls (group 3). RESULTS The mean amblyopic visual acuity was 20/100-2. Compliance was good in 36 patients (group 1), and was poor or deteriorated in 24/48 patients (group 2). Substituting the adhesive patch with a translucent tape permitted uninterrupted and prolonged occlusion, with a successful visual outcome. The amblyopic eye achieved a significantly better final vision (20/30+2; groups 1+2) than the controls (20/40+1; group 3) (p = 0.04). Sixty-four (76.19%) patients achieved >or=20/30. CONCLUSIONS The translucent tape optimizes compliance and yields better vision by lengthening the duration of occlusion therapy and reducing the number of treatment failures due to noncompliance.

Monocular contribution to the peak time of the binocular pattern visual evoked potential.

The contribution of each monocular pathway to the timing of the binocular pattern visual evoked potential was assessed in situations where a significant interocular timing discrepancy was observed. Monocular and binocular pattern visual evoked potentials to 0.5° checks were recorded from normal subjects, normal subjects in whom one eye was blurred, patients with monocular amblyopia, and patients with resolved unilateral optic neuritis. Normal subjects showed facilitation, while suppression was evidenced in subjects with monocular blurring. In patients with amblyopia, the affected pathway had no effect on binocular pattern visual evoked potential latency, suggesting that the amblyopic eye was suppressed. In contrast, all patients with optic neuritis showed binocular averaging. Our results show that different forms of binocular interaction are evidenced in normal subjects, in amblyopia and in optic neuritis, and suggest that a comparative analysis of monocular and binocular pattern visual evoked potential peak times brings valuable information to the clinical evaluation that could be used to distinguish disease processes further.