Albinism Research Today is a free monthly online journal that collates and summarizes the latest research about Albinism, including details on pigmentation, genetic trait, heritability.

Neurodevelopment in Children with Albinism.

Kutzbach BR, Summers CG, Holleschau AM, Macdonald JT

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

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. METHODS: Parents completed a developmental questionnaire and were interviewed to evaluate their child for attention deficit hyperactivity disorder (ADHD) utilizing Diagnostic and Statistical Manual IV criteria. Sixty-five children underwent neurologic evaluation of balance and fine and gross motor movements. Results were compared with age-appropriate norms. Standardized reading tests were administered to 44 children. Each of 7 neurodevelopmental parameters were compared in terms of binocular best-corrected visual acuity (BCVA) using the nonparametric Wilcoxon rank-sum test. MAIN OUTCOME MEASURES: Seven neurodevelopmental parameters were measured, including onset of walking, tandem gait, repetitive finger movements, sequential finger movements, standing on one foot, hopping on one foot, and throwing a ball overhand. School performance, reading performance, and presence of ADHD were also measured. RESULTS: The BCVA ranged from 20/20 to 20/800, with median of 20/150. A diagnosis of ADHD was present in 21.8% and pervasive developmental disorder was noted in three children (3.8%). No significant developmental delays were noted in the majority of children. Motor development was generally within the normal range and unaffected by severity of visual impairment. Parents reported that 82% performed at grade level in math and 74% at grade level in reading. Only 18% scored below average on standardized reading tests. CONCLUSIONS: Most children with albinism have normal neurologic development despite visual impairment and increased prevalence of ADHD.

Published 28 April 2008 in Ophthalmology.
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Articles on Albinism published 14 April 2008:

Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.   J Dermatol Sci.

Patients with OCA are characterized by reduced skin and hair pigmentation and consequent photosensitivity, actinic damage and risk of skin cancer, and by reduced visual acuity and nystagmus. Our survey of Japanese patients revealed that OCA1 was the most frequent type at 34%, while type 2 was present at less than 10%. OCA3 was absent. OCA4, which is a rare type worldwide, was the second most frequent type at 27%. Unexpectedly 10% of the patients turned out to be Hermansky-Pudlak syndrome type ... [Abstract] [Full-text]

Articles on Albinism published 10 April 2008:

Isolated foveal hypoplasia.   Int Ophthalmol.

Purpose To describe a patient with isolated foveal hypoplasia. Methods A 55-year-old man with the clinical suspicion of foveal hypoplasia was given a complete ophthalmological examination, including optical coherence tomography (OCT), fluorescein angiography (FA) and fundus-related perimetry (FRP). Mutation screening for oculocutaneous albinism and aniridia was also performed, but the results were negative for both. Results Following a complete ophthalmological examination and genetic studies, ... [Abstract] [Full-text]

Articles on Albinism published 4 April 2008:

Development of chloride homeostasis in albino and pigmented rat visual cortex neurons.   Neuroreport, 19(5): 595-8.

Albinism has a profound effect on visual development and visual function. Pharmacologically significant alterations of the two most important chloride-transporters--KCC2 (outward transporter) and NKCC1 (inward transporter)--functions were found in albino visual cortex neurons, comprising a higher NKCC1 and a lower KCC2 action. In this study, we compare the early postnatal development of the reversal potential of gamma-aminobutyric acidAR-mediated currents in visual cortex neurons of albino and ... [Abstract] [Full-text]

Articles on Albinism published 1 April 2008:

Involvement of OA1, an Intracellular GPCR, and G{alpha}i3, its Binding Protein, in Melanosomal Biogenesis and Optic Pathway Formation.   Invest Ophthalmol Vis Sci.

PURPOSE. Ocular albinism type 1 (OA1) is characterized by abnormalities in retinal pigment epithelium (RPE) melanosomes and misrouting of optic axons. The OA1 gene encodes a G-protein-coupled receptor (GPCR) that co-immunoprecipitates with the Galphai-subunit of hetrotrimeric G-proteins from human melanocyte extracts. This study was undertaken to test if one of the Galphai proteins, Galphai3, signals in the same pathway as OA1 to regulate melanosome biogenesis and axonal growth through the ... [Abstract] [Full-text]

Articles on Albinism published 10 March 2008:

Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report.   J Med Case Reports, 2: 56.

ABSTRACT: INTRODUCTION: Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. CASE PRESENTATION: This article reports ... [Abstract] [Full-text]

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.   Invest Ophthalmol Vis Sci, 49(3): 868-72.

PURPOSE: Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is associated with decreased visual acuity, nystagmus, strabismus, and photophobia, although pigmentation of skin and hair is relatively normal. Previous studies have shown that AROA in some cases constitutes a clinically mild presentation of oculocutaneous albinism (OCA), due to mutations in either the TYR (OCA1) or OCA2 (P) genes. The purpose of this study was to ... [Abstract] [Full-text]

Articles on Albinism published 7 March 2008:

A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.   Eur J Haematol, 80(4): 356-60.

The Hermansky-Pudlak syndrome (HPS) is a rare genetically heterogeneous autosomal recessive disorder, characterized by tyrosinase-positive oculocutaneous albinism, platelet dysfunction and lysosomal ceroid lipofuscin storage. This is caused by defects in lysosome-related organelles. In humans eight different types of the syndrome are known, of which a short overview is given. The clinical features and a novel mutation of a patient with HPS type 5 are described here. [Abstract] [Full-text]

Articles on Albinism published 28 February 2008:

The squamous variant of eccrine porocarcinoma: a clinicopathological study of 21 cases.   J Clin Pathol, 61(3): 361-5.

AIM: Squamous differentiation in eccrine porocarcinoma (EPC) is an unusual phenomenon that has rarely been reported in the literature. This study describes the clinical and pathological findings in a series of 21 cases of EPC showing extensive squamous differentiation. METHODS: The H&E-stained sections, epithelial membrane antigen and carcinoembryonic antigen immunohistochemical stains were reviewed for each case. The following variables were examined: age, gender, race, site and size of ... [Abstract] [Full-text]

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