Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?

We describe a boy with an interstitial deletion of 6(q13-q15) and include "coarse" facial features, upslanting palpebral fissures, thin vermilion border of the upper lip, elongated philtrum, developmental delay, and profound hypotonia. The child's eye findings, pedigree, paucity of maternal ocular changes, and lack of melanin macroglobules in the skin suggest that this individual's phenotype is clinically similar to that of autosomal recessive ocular albinism. Though it is possible that this deletion and his ophthalmic disorder are coincidental, we postulate that the ocular albinism may be due to hemizygosity for a paternally derived ocular albinism gene located on chromosome 6 in the region q13-q15. This patient's deletion is secondary to a recombination of a maternal intrachromosomal inverted insertion of this region. Of the 7 reported 6q1 deletions, this is the only case that is due to a familial chromosome rearrangement.

Do tinted lenses improve the reading performance of dyslexic children? A cohort study.

The use of tinted lenses as a method to improve reading skills in children with dyslexia has been a controversial issue in recent years. The purpose of the present study was to determine if tinted lenses cause a measurable improvement in the reading performance of dyslexic children. Twenty-four children aged 8 to 12 years participated in the study. Dyslexia was diagnosed in all children by psychological evaluation, and these children underwent an ophthalmic evaluation for inclusion into the study. Participants were graded for speed and accuracy as they read through spectacle frames that contained red-, blue-, yellow-, and green-tinted lenses, a neutral-density lens, and empty frames. All lenses for each subject were of the same density level, with subjects alternately distributed to one of two densities tested (0.12 or 0.30 log units). Each child was asked to select the lens condition that subjectively improved reading ability at the conclusion of testing. One-way analysis of variance of reading performance showed neither improvement nor deterioration attributable to lens color or density when applied to error rates (F = 1.73, P = .14 for a density of 0.12; F = 0.28, P = .92 for a density of 0.30) or to reading rates (F = 0.98, P = .44 for a density of 0.12; F = 0.81, P = .55 for a density of 0.30). In addition, the lens condition that was subjectively preferred by each child did not correlate with actual reading performance (chi 2 = 3.83, not significant; 11.07 needed for significance at P = .05).

Tonic pupil and orbital glial-neural hamartoma in infancy.

PURPOSE/METHODS: Tonic pupils in early childhood are rare. We studied an otherwise healthy 31/2-month-old girl who had a right pupil that was poorly reactive to light, without other signs of oculomotor nerve palsy. RESULTS/CONCLUSIONS: Constriction of the right pupil after instillation of 0.125% pilocarpine eyedrops confirmed denervation hypersensitivity, consistent with a tonic pupil. There was no strabismus or proptosis. A magnetic resonance imaging scan demonstrated a right orbital mass, interposed between the lateral and inferior recti muscles. Biopsy was consistent with a benign, glial-neural hamartoma. Thus, in this young patient, a tonic pupil was associated with a benign orbital mass.

Visual function in children with developmental disabilities.

Vision involves a process of maturation that occurs in early childhood. Early recognition of visual disorders such as amblyopia is necessary to assure prompt treatment and optimize visual potential. This is especially important in children with developmental disabilities, in whom there is a high prevalence of such problems. Certainly, the type of ocular disorder varies according to the type of disability. But individual ophthalmic assessment is important, regardless of diagnosis, to identify treatable conditions that may improve or maximize visual function. In addition, ophthalmic examination may reveal distinctive anomalies in cases in which the etiology of disability has been difficult to establish. The present level of expertise and technology allows a comprehensive ophthalmic assessment to be performed, regardless of a child's level of impairment or ability to cooperate.