Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region. Because OCA subtypes are not always clinically distinguishable, molecular analysis has become an important tool for classifying types of OCA, which facilitates genetic counseling and can guide the development of new therapies. We studied eight Brazilian individuals aged 1.5-18 years old with clinical diagnosis of OCA. Assessment of ophthalmologic characteristics showed results consistent with albinism, including reduced visual acuity, nystagmus, and loss of stereoscopic vision. We also observed the appearance of the strabismus and changes in static refraction over a 2-year period. Dermatologic evaluation showed that no participants had preneoplastic skin lesions, despite half of the participants reporting insufficient knowledge about skin care in albinism. Wholeexome and Sanger sequencing revealed eight different mutations: six in the TYR gene and two in the SLC45A2 gene, of which one was novel and two were described in a population study but were not previously associated with the OCA phenotype. We performed two ophthalmological evaluations, 2 years apart; and one dermatological evaluation. To the best of our knowledge, this is the first study to perform clinical followup and genetic analysis of a Brazilian cohort with albinism. Here, we report three new OCA causing mutations.

Fonte de auxílio à pesquisa:trabalho não financiado.Conflitos de interesse: os autores declaram que não há conflitos de interesses.

RESUMO OBJETIVO: Identificar a prevalência das enfermidades visuais em crianças previamente diagnosticadas com Transtorno de Déficit de Atenção e Hiperatividade (TDAH). MÉTODOS: A amostra utilizada consistiu em 132 prontuários de crianças entre 07 e 14 anos diagnosticadas com TDAH, entre 2010 e 2014, encaminhadas pelo serviço de neurologia de um hospital pediátrico para o serviço de oftalmologia do mesmo hospital para avaliação oftalmológica de rotina. Foram avaliados o sexo do paciente, idade, consultas oftalmológicas prévias, uso prévio de óculos, alterações visuais e tratamento oftalmológico proposto.RESULTADOS: Constatou-se que 84,8% (n=112) não tinham avaliação oftalmológica prévia. Das queixas referidas pelos pacientes na avaliação oftalmológica, as mais frequentes foram baixa acuidade visual em 30,3% (n=20) e cefaleia em 27,3% (n=19). Uma ou mais enfermidades oftalmológicas foram encontradas em 51,5% (n=68), sendo a hipermetropia a mais prevalente (35,6%, n=47). CONCLUSÕES: Pode-se inferir que há uma relação entre TDAH, dificuldade de aprendizado e alterações visuais. Se todas as crianças passassem por avaliação oftalmológica antes do completo desenvolvimento ocular, as enfermidades visuais poderiam ser precocemente tratadas, melhorando o prognóstico global do paciente.Descritores: TDAH, dificuldade de aprendizado na infância, enfermidades oftalmológicas pediátricas, vícios de refração. ABSTRACT OBJECTIVE: This paper aims to identify the prevalence of visual diseases in children previously diagnosed with Attention Deficit Hyperactivity Disorder (ADHD). METHOD: The sample consisted of 132 medical records of children between 7 and 14 years old diagnosed with ADHD, between 2010 and 2014, referred by the neurology service of a pediatric hospital for the ophthalmology service of the same hospital. It was evaluated the patient's sex, age, previous ophthalmic examinations, previous use of glasses, presence of visual changes and its management. RESULTS: It was found that 84.8% (n=112) had no previous ophthalmic assessment. Among the mentioned complaints by patients, the most frequent were low visual acuity in 30.3% (n=20) and headache in 27.3% (n=19). One or more ophthalmic diseases have been found in 51.5% (n=68), being hyperopia the most prevalent (35.6%, n=47).CONCLUSION: It can be inferred that there is an association between ADHD, learning difficulties and visual impairment. If all children go through ophthalmologic evaluation before the eye's full development, visual diseases could be treated early, improving the overall prognosis.