Visual Development During the Second Decade of Life in Albinism.

Purpose: To evaluate change in best corrected visual acuity (BCVA) during the second decade of life and the effects of albinism type and extraocular muscle surgery on BCVA in children with albinism.

Methods: In this retrospective longitudinal study, 41 patients with albinism with clinic visits recording binocular BCVA at least once between the ages of 10 and 13 years (visit A) and again between the ages of 17 and 20 years (visit B) were included. Type of albinism, age at each visit, and interval eye muscle surgeries were recorded for each patient.

A cross-sectional examination of visual acuity by specific type of albinism.

Purpose: Reports of best-corrected visual acuity (BCVA) in albinism are often based on overlapping clinical phenotypes. BCVA in albinism has been shown to improve with age. This study reports a large cross-sectional investigation to determine whether BCVA differs by specific type of albinism when age-corrected.

Concordance of visual and structural features between siblings with albinism.

Purpose: To evaluate similarities and differences in visual function and ocular structure between siblings with albinism.

Methods: The medical records of all siblings diagnosed with albinism were retrospectively reviewed. Comparisons were made using examination at oldest age for younger sibling and examination closest to that age for older siblings.

Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial.

Background: Dopamine is an intermediate product in the biosynthesis of melanin pigment, which is absent or reduced in albinism. Animal research has shown that supplying a precursor to dopamine, levodopa, may improve visual acuity in albinism by enhancing neural networks. This study examines the safety and effectiveness of levodopa on best-corrected visual acuity in human subjects with albinism.

Use of a driving simulator to assess performance under adverse weather conditions in adults with albinism.

Participants with albinism have reduced vision and nystagmus with reduced foveation times. This prospective study evaluated driving in 12 participants with albinism and 12 matched controls. Participants drove a vehicle simulator through a virtual rural course in sunny and foggy conditions.

Reading skills in children and adults with albinism: the role of visual impairment.

Purpose: To evaluate whether visual impairment in albinism contributes significantly to the acquisition of normal reading skills.

Methods: The authors administered standardized reading tests to 41 children and 18 adults with albinism. The Young Children's Achievement Test was used for children between 4 and 6 years old and the Woodcock-Johnson III was used for children 7 years and older and adults.

Change in visual acuity in albinism in the early school years.

Purpose: To determine whether binocular best-corrected visual acuity (B-BCVA) improves in the early school years in patients with albinism and whether this is related to type of albinism, ocular pigment, or appearance of the macula.

Methods: Patients with albinism seen between 5.5 and 9 years (Visit A) and 9.

Reading acuity in albinism: evaluation with MNREAD charts.

Introduction: The MNREAD reading acuity (RA) charts use continuous-text reading to measure (1) RA, ie, the smallest size of print that the patient can resolve; (2) maximum reading speed (MRS); and (3) critical print size (CPS), ie, the smallest print that the patient can read with maximum speed. This project used the MNREAD charts to evaluate reading performance in children and adults with albinism to determine the smallest print size recommended to facilitate effortless reading.

Methods: A total of 63 subjects with albinism were administered the MNREAD test to determine the critical print size for effortless reading.

Evaluation of vision-specific quality-of-life in albinism.

Introduction: Human albinism is a genetic condition associated with visual impairment that affects many aspects of daily life. Office measurements of visual acuity do not necessarily reflect daily visual function and health status. This study used the National Eye Institute Visual Function Questionnaire (NEI-VFQ) to determine the effect of albinism-associated ophthalmopathy on quality of life (QOL).

Neurodevelopment in children with albinism.

Objectives: To evaluate neurologic development in children with albinism.

Design: Observational cohort series.

Participants And/or Controls: Seventy-eight children with albinism, ages 4 to 18 years.

The prevalence of attention-deficit/hyperactivity disorder among persons with albinism.

Attention-deficit/hyperactivity disorder (ADHD) is a common diagnosis in children and adults. Human albinism is an uncommon genetic condition associated with visual impairment that may affect behavior. To determine if there is a relationship between albinism and ADHD, the prevalence of ADHD was examined among 78 children (age range, 4-18 years) and among 44 adults (age range, 19-79 years) with ocular or oculocutaneous albinism.

Correlation of grating acuity with letter recognition acuity in children with albinism.

Purpose: This study was undertaken to determine whether grating acuity in early childhood can be used as a predictor of letter recognition acuity in patients with albinism.

Methods: In this retrospective study, we compared the binocular grating acuities of children with albinism (30 at age 1, 29 at age 2, and 19 at age 3) to their letter recognition acuity at age 4-6 years.

Results: Mean binocular grating acuity was 2.

X-linked high myopia associated with cone dysfunction.

Objective: Bornholm eye disease (BED) consists of X-linked high myopia, high cylinder, optic nerve hypoplasia, reduced electroretinographic flicker with abnormal photopic responses, and deuteranopia. The disease maps to chromosome Xq28 and is the first designated high-grade myopia locus (MYP1). We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent.

New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.

Purpose: To map the gene(s) associated with autosomal dominant (AD) high-grade myopia.

Methods: A multigeneration English/Canadian family with AD severe myopia was ascertained. Myopes were healthy, with no clinical evidence of syndromic disease, anterior segment abnormalities, or glaucoma.

Glutathione metabolism in primate lenses: A phylogenetic study of glutathione synthesis and glutathione redox cycle enzyme activities.

Lens wet weights, soluble protein, and activities of γ-glutiamylcysteine synthetase, glutathione synthetase, glutathione peroxidase, and glutathione reductase were determined in primate lenses. The primary sources of lenses were middle-aged adult animals. The Primates, from 23 genera, were categorized into six superfamilies: hominoids (five species), Old World monkeys (seven species), New World monkeys (five species), tarsiers (two species), lemurs (six species), and lorisids (three species).