Características visuales en el albinismo: Revisión sistemática

El albinismo es una condición compleja, en muchos casos incapacitante, afectando a muchas personas alrededor del mundo, incluso puede conducir a la muerte. Los problemas visuales más comunes que pueden existir en el albinismo con fotofobia son defectos refractivos con medidas considerables, problemas a nivel de fondo de ojo, fotofobia y translucencia de iris. La realidad actual estima que 1 de cada 10.000 personas tienen albinismo y pueden presentar estos problemas visuales. Objetivo. Identificar las características visuales en cada tipo de albinismo presentados en los estudios de Latinoamérica durante el periodo 2014-2022. Metodología. Se realizó una revisión sistemática. Como criterios de inclusión se tomó en cuenta el año de publicación de las fuentes. Se utilizaron los siguientes descriptores de búsqueda en español y en inglés: "albinismo", "tipos de albinismo" y "complicaciones albinismo", "albinism", "albinism types", "albinism issues". Resultados. Fueron seleccionados 22 artículos obtenidos de Google Académico, revistas como pubmed, scielo, Elsevier, tesis, de los cuales y basado en controles de calidad se analizaron 12 fuentes. Conclusión. La mayoría de estudios describen tratamientos posibles para el albinismo. Se resaltan hallazgos clínicos que destacan las características en los tipos de albinismo como lo son problemas a nivel del nervio óptico como la hipoplasia, y disminución de la agudeza visual, nistagmus y en ocasiones el problema de posición compensatoria de cabeza.

Albinism is a complex condition, in many cases disabling, affecting many people around the world, and can even lead to death. The most common visual problems that may exist in albinism with photophobia are refractive defects with considerable measurements, problems at the fundus level, photophobia and iris translucency. Current reality estimates that 1 in 10,000 people have albinism and may present with these visual problems. Objective. To identify the visual characteristics in each type of albinism presented in studies in Latin America during the period 2014-2022. Methodology. A systematic review was performed. The year of publication of the sources was taken into account as inclusion criteria. The following search descriptors were used in Spanish and English: "albinism", "types of albinism" and "albinism complications", "albinism", "albinism types", "albinism issues". Results. Twenty-two articles obtained from Google Scholar, journals such as pubmed, scielo, Elsevier, theses were selected, from which and based on quality controls 12 sources were analyzed. Conclusion. Most studies describe possible treatments for albinism. Clinical findings that highlight the characteristics in the types of albinism such as problems at the level of the optic nerve as hypoplasia, and decreased visual acuity, nystagmus and sometimes the problem of compensatory head position are highlighted.

O albinismo é uma condição complexa e, em muitos casos, incapacitante, que afeta muitas pessoas em todo o mundo e pode até levar à morte. Os problemas visuais mais comuns que podem existir no albinismo com fotofobia são defeitos de refração de tamanho considerável, problemas no nível do fundo do olho, fotofobia e translucidez da íris. A realidade atual estima que 1 em cada 10.000 pessoas tem albinismo e pode apresentar esses problemas visuais. Objetivo. Identificar as características visuais em cada tipo de albinismo apresentado em estudos na América Latina durante o período de 2014 a 2022. Metodologia. Foi realizada uma revisão sistemática. O ano de publicação das fontes foi levado em consideração como critério de inclusão. Foram usados os seguintes descritores de busca em espanhol e inglês: "albinismo", "tipos de albinismo" e "complicações do albinismo", "albinismo", "tipos de albinismo", "questões de albinismo". Resultados. Foram selecionados 22 artigos do Google Scholar, revistas como pubmed, scielo, Elsevier, teses, dos quais 12 fontes foram analisadas com base em controles de qualidade. Conclusão. A maioria dos estudos descreve possíveis tratamentos para o albinismo. Os achados clínicos destacam as características dos diferentes tipos de albinismo, como problemas no nervo óptico, como hipoplasia, diminuição da acuidade visual, nistagmo e, às vezes, problemas compensatórios na posição da cabeça.

El niño plateado: Síndrome de Chediak-Higashi / The Silver Child: Chediak-Higashi Syndrome

El Síndrome de Chediak-Higashi (SCH) es una patología de herencia autosómica recesiva debido principalmente a mutaciones del gen regulador del tráfico lisosómico (LYST), causando grados dermatológicamente diferentes de albinismo óculocutáneo, infecciones recurrentes, disfunción fagocítica primaria, en el desarrollo y proliferación de todas las líneas celulares. Se presenta caso de preescolar masculino de 2 años de edad, ingresado por aumento de volumen bilateral en región cervical y fiebre, en malas condiciones generales, con áreas de hiperpigmentación en piel, cabello y cejas de coloración grisácea, adenopatías generalizadas y visceromegalias; leucocitosis con linfocitosis y neutropenia, anemia, trombocitopenia, hipoalbuminemia, hipertrigliceridemia e hiperferritinemia; en vista de la infrecuente coexistencia de dichas características con albinismo óculocutáneo; es evaluado por hematología y dermatología evidenciándose inclusiones citoplasmáticas y melanosomas gigantes, respectivamente, compatibles con SCH, confirmándose diagnóstico. El conocimiento del SCH es importante para la oportuna sospecha clínica-diagnóstica e inicio de protocolos terapéuticos en consenso, que garanticen un manejo eficaz para su sobrevida(AU)

Chediak-Higashi syndrome (SCH) is an auto somal recessive in herited pathology mainly due to mutations ofthe LYST gene, causing dermatologically different degrees of oculocutaneous albinism, recurrent infections, primary phagocytic dysfunction, in the development and proliferation of all cell lines. We present a case of a 2-year-old male preschool, admitted due to bilateral volume increase in thecervical region and fever, in poor general conditions, with areas of hyperpigmentation in skin, hair and eyebrows of grayish coloration, generalized lymphadenopathy and visceromegaly; leukocytosis with lymphocytosis and neutropenia, anemia, thrombocytopenia, hypoalbuminemia, hypertriglyceridemia,and hyperferritinemia; in view of the infrequent coexistence of these characteristics with oculocutaneous albinism; it isevaluated by hematology and dermatology, showing cytoplasmicinclusions and giant melanosomes, respectively, compatiblewith SCH, confirming the diagnosis. Knowledge of SCH is important for timely clinical-diagnostic suspicion and initiation of consensus therapeutic protocols that guarantee effective management for survival(AU)

Fibrosis pulmonar familiar en el síndrome de Hermansky-Pudlak

La fibrosis pulmonar familiar en el contexto del síndrome de Hermansky-Pudlak es una entidad nosológica poco frecuente y cuyo único enfoque terapéutico definitivo es el trasplante pulmonar en los estadios avanzados. Describimos algunos aspectos clínicos diagnósticos y terapéuticos que configuran el manejo de las enfermedades huérfanas en países como el nuestro.

Family pulmonary fibrosis in the context of Hermansky-Pudlak syndrome is a rare nosological entity whose only definitive therapeutic approach is lung transplantation in the advanced stages. We describe some diagnostic and therapeutic clinical aspects that shape the management of orphan diseases in countries like ours.

Primer reporte de albinismo en vizcacha Lagidium viscacia (Rodentia: Chinchillidae) en los Andes de Perú

Se documenta el primer registro de albinismo de vizcacha (Lagidium viscacia) con base en dos individuos avistados en el departamento de Apurímac, en Perú. Este registro representa el primer reporte de albinismo en la familia Chinchillidae.

We report the first record of albinism in vizcacha (Lagidium viscacia) based on two adult individuals sighted in department of Apurímac, in Peru. This record represents the first report of albinism in Chinchillidae.

Hereditariedade do albinismo Oculocutâneo em um grupo populacional no estado da Bahia / Heredity of Oculocutaneous albinism in a population group in the state of Bahia

Objetivo: trazer conhecimentos sobre a hereditariedade do albinismo em famílias da Bahia, estado com estimativa de taxa elevada da característica. Métodos: pesquisa seccional descritiva por amostragem de conveniência, com consulta às fichas de atendimento do programa Genética e Sociedade (Instituto de Biologia- UFBA) e ao banco de dados da Associação de Pessoas com Albinismo da Bahia (APALBA). Resultados: no total de 457 albinos, verificaram-se 265 com mais de um caso de albinismo na família (58%). Casais formados por pessoas albinas tiveram filhos com a mesma característica, o que concorda com o modelo clássico de herança autossômica recessiva para o albinismo, que preconiza nesta situação 100% dos filhos também albinos. Entretanto, em uma família, o casal albino com traços fenotípicos de diferentes subtipos teve um filho pigmentado com avaliação oftalmológica normal. Essa ocorrência foi associada à heterogeneidade genética do albinismo parental. Conclusões: estudos sobre a transmissão hereditária do albinismo em populações numerosas podem trazer contribuições para escolhas reprodutivas, aconselhamento genético e acompanhamento em saúde, tendo em vista a implantação precoce de medidas preventivas de danos à pele e à visão.

Objective: this study aimed to bring knowledge about the heredity of albinism in families from Bahia, a state with an estimated high rate of the characteristic. Methods: descriptive sectional survey by convenience sampling, with consultation to records of admission of the Genetics and Society program (Institute of Biology- UFBA) and the database of the Association of People with Albinism in Bahia (APALBA). Results: in a total of 457 albinos, there were 265 with more than one case of albinism in the family (58%). Albino couples had children with the same characteristic, which agrees with the classic model of autosomal recessive inheritance for albinism, which advocates that in this situation 100% of the children are also albinos. However, in one of these families, the albino couple with phenotypic traits of different subtypes had a pigmented child with normal ophthalmological evaluation. This occurrence was associated with the genetic heterogeneity of parental albinism. Conclusions: studies about hereditary transmission of albinism in large populations can contribute to reproductive choices, genetic counseling, and health monitoring, with a view to early implementation of preventive measures for skin and vision damage.

Nistagmo secundario a albinismo con compromiso ocular en paciente femenina: un desafío diagnóstico / Nystagmus secondary to albinism with ocular involvement in a female: a diagnostic challenge

INTRODUCCIÓN: El nistagmo infantil es infrecuente y representa un desafío diagnóstico para el pediatra. El albinismo es una de sus principales causas, siendo difícil de sospechar en ausencia de compromiso cutáneo evidente, especialmente en pacientes femeninas, debido a que tipo de herencia del albinismo ocular. OBJETIVO: Describir un caso de nistagmo secundario a albinismo con compromiso ocular aislado en paciente femenina, para discutir el enfoque diagnóstico pediátrico. CASO CLÍNICO: Paciente fe menino de 3 semanas de vida, sin antecedentes mórbidos, derivada a neuropediatra y oftalmólogo por movimientos oculares paroxísticos desde las 2 semanas, con estudio con electroencefalograma e imágenes cerebrales normales. A los 3 meses se confirmó translucencia iridiana, nistagmo y astigmatismo hipermetrópico. La valuación dermatológica descartó compromiso cutáneo. Evolucionó con inclinación cefálica hacia abajo y retraso del desarrollo de la coordinación, fue manejada con lentes de corrección y kinesioterapia. A los 3 años, destacaba mejoría de la agudeza visual, disminución del nistagmo y neurodesarrollo normal. La evaluación oftalmológica de ambos padres fue normal y no había antecedentes de nistagmo o albinismo en la familia. Por decisión de los padres no se realizó estudio genético. CONCLUSIÓN: El diagnóstico de nistagmo secundario a compromiso ocular del albinismo, aún en ausencia de afección cutánea, es clínico; el estudio genético permite confirmar la etiología, sin ser un examen imprescindible, a menos que se considere la planificación familiar. La pesquisa oportuna e intervención multidisciplinaria determinan un mejor pronóstico.

INTRODUCTION: Infantile nystagmus is an infrequent condition that represents a diagnostic challenge for the pediatri cian. Albinism is one of its main causes, being difficult to suspect in the absence of evident cutaneous involvement, especially in female patients, due to the inheritance type of ocular albinism. OBJECTIVE: To describe a case of nystagmus secondary to albinism with isolated ocular involvement in a female patient, in order to provide tools for pediatric approach and diagnosis. CLINICAL CASE: Three- weeks-old female patient, without morbid history, referred to a pediatric neurosurgeon and ophthal mologist due to paroxysmal eye movements since 2 weeks of age. The electroencephalogram and brain images were normal. In follow-up monitoring at 3 months, iris translucency, nystagmus, and hypermetropic astigmatism were confirmed. Dermatologic evaluation ruled out cutaneous invol vement. The patient developed cephalic downward inclination and coordination development de lay was confirmed, the patient was handled with corrective lenses and kinesiotherapy. In follow-up monitoring at 3 years, there was an improvement in visual acuity, decreased nystagmus and normal neurodevelopment. The ophthalmological evaluation of both parents was normal and there was no history of nystagmus or albinism in the family. Upon her parents' decision, no genetic study was ca rried out. CONCLUSION: The diagnosis of nystagmus secondary to ocular albinism, even in the absence of cutaneous involvement, is clinical. The genetic study allows confirming the etiology, without being an essential examination, unless family planning is considered. Timely research and multidisciplinary intervention determine a better prognosis.

Leucismo em jacaretinga: relato de caso / Leucism in jacaretinga: case report

Dentre os crocodilianos com ocorrência no Brasil, o Caiman crocodilus (Linnaeus, 1758) é a espécie de maior frequência, porém sua presença em estudos científicos restringe-se a levantamentos faunísticos, na maioria das vezes. O leucismo, também conhecido como albinismo parcial, é uma anomalia cromática ainda pouco conhecida. Indivíduos portadores dos genes que condicionam a doença apresentam ausência de pigmentação em uma parte ou em todo o corpo, porém os olhos não apresentam alteração. O objetivo deste trabalho foi realizar o primeiro registro de Caiman crocodilus com leucismo no mundo.(AU)

Among crocodilians in Brazil, Caiman crocodilus (Linnaeus, 1758) is the most frequent species, but its presence in scientific studies is mostly restricted to faunal surveys. Leukism, also known as partial albinism, is a still little known chromatic anomaly. Individuals with genes that condition the disease present no pigmentation in one part or in the whole body, but the eyes did not change. The objective of this work was to perform the first record of Caiman crocodilus with leucismo in the world.(AU)

A case of complete albinism in the catfish Cambeva guareiensis (Siluriformes: Trichomycteridae) / Um caso de albinismo completo no bagrinho Cambeva guareiensis (Siluriformes: Trichomycteridae)

Abstract: Albinism has been recorded in Neotropical freshwater fishes, mostly for nocturnal or cryptobiotic species. We report herein a case of albinism in the catfish Cambeva guareiensis (Trichomycteridae) from the Guareí River basin, Upper Paraná River basin, southeastern Brazil. The albino fish was caught with seven individuals with typical color pattern of the species. The features of the albino fish in life and shortly after preservation are described and illustrated.

Resumo: Albinismo tem sido registrado em peixes de água doce Neotropicais, principalmente em espécies noturnas ou criptobióticas. Relatamos aqui um caso de albinismo no bagrinho Cambeva guareiensis (Trichomycteridae) da bacia do Rio Guareí, bacia do Alto Rio Paraná, sudeste do Brasil. O peixe albino foi capturado juntamente com sete indivíduos com padrão de cor típico da espécie. As caracteristicas do peixe albino em vida e logo após a preservação são descritas e ilustradas.

Primer reporte de albinismo para el cuy silvestre Cavia tschudii (Mammalia: Rodentia) / First albinism report for the wild guinea pig Cavia tschudii (Mammalia: Rodentia)

En mamíferos silvestres los patrones de coloración atípica como el albinismo ocurren en baja frecuencia y en la literatura científica sus reportes son escasos. Por lo cual los hallazgos de este tipo son importantes para comprender mejor este fenómeno. En el presente trabajo realizamos el primer reporte de albinismo para el cuy silvestre Cavia tschudii (Rodentia) en la costa central de Perú. Este hallazgo también representa el primer registro de albinismo para el género Cavia en el Neotrópico.

In wild mammals, atypical coloration patterns such as albinism occur at a low frequency and are poorly reported in the literature. Therefore, discovery of cases of coloration anomalies are important to better understand this phenomenon. Here, we describe the first reported case of albinism in Cavia tschudii "Wild Guinea Pig" from the central coast of Peru. This discovery also represents the first record of albinism for the genus Cavia in the Neotropics.

Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography. / Albinismo ocular con mutación en GPR143: hallazgos en autofluorescencia de campo amplio y tomografía de coherencia óptica.

A 12 year-old boy who consulted due to nystagmus and low vision from birth. His mother also consulted for low vision of the right eye since she was a child, which worsened recently. The physical examination revealed no alterations in skin and hair pigmentation. In the examination of the anterior segment of the child, areas of slight circumferential hypopigmentation were observed in the iris in both eyes. The fundus examination revealed a choroidal fundus due to the absence of melanin in the retinal pigment epithelium. In the autofluorescence, an absence of physiological macular hypo-autofluorescence was observed and, in optical coherence tomography, foveal hypoplasia was observed in both eyes. In the ocular fundus examination of the mother, slight macular pigmentary changes were observed in the right eye, with hyperpigmented radiated spots in the retinal periphery of both eyes, which were hypo-autofluorescent in the wide-field autofluorescence. In the optical coherence tomography of the right eye, a cavitation of the outer retinal layers was observed in the fovea. The genetic study by nucleotide sequencing was performed on the mother and the child. In the mutation found in the GPR143 gene, the son was hemizygous and the mother was heterozygous. X-linked ocular albinism was diagnosed and the genetic counselling was carried out. Ocular albinism linked to X is the most frequent genetic variant of this disease. Peripheral pigment alterations in heterozygous mothers have been previously described in the literature, but there are no reports of cavitations in the external retinal layers using optical coherence tomography.

Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis) / Detecção molecular do gene do albinismo em rebanhos de búfalos (Bubalus bubalis) do Brasil

Albinism is a genetic disease characterized by deficient melanin production making affected animals more susceptible to skin problems, negatively influencing production systems of the same. In buffalo, a nonsense mutation (c.1431G>A) in the tyrosinase gene was already described, which is responsible for the oculocutaneous albinism buffalo phenotype. However, prevalence studies have never been performed for this anomaly in Brazil. Therefore, the objective of this study was to investigate this mutation in buffalo herd in Brazil. Of the 315 buffalo tested with no albinism phenotype evident, 11 (3.5%) were heterozygous for the mutation and none were mutated homozygous, showing the existence of the albinism gene in buffalo production herds and proving the importance of prevalence studies for hereditary diseases in order to prevent the dissemination of these same genes and their negative productivity consequences.(AU)

O Albinismo é uma doença genética caracterizada pela deficiência na produção de melanina, o que torna os animais afetados mais susceptíveis a problemas cutâneos e influencia negativamente a criação destes animais. A mutação nonsense (c.1431G>A) no gene da tyrosinase já foi descrita como responsável pelo albinismo oculocutâneo em búfalos, entretanto estudos prévios sobre a prevalência dessa mutação ainda não foram realizados no Brasil. Portanto, o objetivo deste estudo foi avaliar a presença desta mutação em uma população de búfalos brasileiros. Foram genotipados 315 búfalos clinicamente normais, ou seja, sem o fenótipo albino evidente. Desses, 11 (3,5%) eram heterozigotos para a mutação (N/TYR) e os demais eram homozigotos selvagens (N/N). Este resultado demonstra que o alelo mutado para o albinismo em búfalo está presente no rebanho brasileiro e aponta a importância de estudos de prevalência de enfermidades hereditárias com o objetivo de prevenir a disseminação desses alelos mutados, minimizando os prejuízos.(AU)

Neoplasia de Células Dendríticas Plasmocitoides blásticas: reporte del primer caso en Ecuador / Blastic Plasmacytoid Dendritic Cell Neoplasm : First Case Report in Ecuador

La Neoplasia de Células Dendríticas Plasmocitoides blásticas (Blastic Plasmacytoid dendritic cell neoplasm ­ BPDCN) es una neoplasia hematológica rara, agresiva, de difícil diagnóstico y con alta mortalidad. Se describe el primer caso en el Ecuador de un paciente joven sin antecedentes patológicos relevantes, ingresado al servicio de Medicina Interna del Hospital Enrique Garcés por presentar máculas cutáneas, artralgias y mialgias, que se complica con derrame pleural tipo exudativo y mala mecánica respiratoria. Exámenes de extensión revelaron: Leucemia mieloide aguda de tipo M2, motivo por el cual fue referido a centro oncológico de referencia para completar estudio y manejo. Estudios citogenéticos y fenotípicos corroboraron el diagnóstico de BPDCN, se instauró tratamiento con protocolo Hyper-CVAD, sin embargo, el paciente presentó compromiso respiratorio, renal y hematológico que progresó a choque refractario y óbito. La naturaleza agresiva de esta rara leucemia es una limitante en el tiempo para instaurar un tratamiento dirigido, determinando en la mayoría de los casos una alta mortalidad

La Neoplasia de Células Dendríticas Plasmocitoides blásticas (Blastic Plasmacytoid dendritic cell neoplasm ­ BPDCN) es una neoplasia hematológica rara, agresiva, de difícil diagnóstico y con alta mortalidad. Se describe el primer caso en el Ecuador de un paciente joven sin antecedentes patológicos relevantes, ingresado al servicio de Medicina Interna del Hospital Enrique Garcés por presentar máculas cutáneas, artralgias y mialgias, que se complica con derrame pleural tipo exudativo y mala mecánica respiratoria. Exámenes de extensión revelaron: Leucemia mieloide aguda de tipo M2, motivo por el cual fue referido a centro oncológico de referencia para completar estudio y manejo. Estudios citogenéticos y fenotípicos corroboraron el diagnóstico de BPDCN, se instauró tratamiento con protocolo Hyper-CVAD, sin embargo, el paciente presentó compromiso respiratorio, renal y hematológico que progresó a choque refractario y óbito. La naturaleza agresiva de esta rara leucemia es una limitante en el tiempo para instaurar un tratamiento dirigido, determinando en la mayoría de los casos una alta mortalidad

Síndrome de Bean y albinismo: reporte del primer caso en Ecuador / Bean Syndrome and Albinism: First Case Report in Ecuador

El síndrome de Blue Rubber Bleb Nevus (BRBNS) o su acrónimo Síndrome de Bean se caracteriza por malformaciones venosas (MV) distribuidas en múltiples zonas anatómicas, con predominio en piel y tracto gastrointestinal (GI). La sintomatología se manifesta comúnmente con episodios hemorrágicos y consecuente anemia crónica secundaria por défcit. Se presenta el caso clínico de una paciente albina de sexo femenino de 68 años de edad, quien acudió por dolor abdominal agudo más rectorragia crónica, al realizar el examen físico llama la atención la presencia de malformaciones venosas (MV) caracterizadas por nódulos azulados, compresibles y heterogéneos, localizados en labio inferior, mentón, región perianal y extremidades, además de dolor a la palpación en hipocondrio derecho. El análisis de laboratorio reveló valores de hemoglobina y hematocrito bajos y otros parámetros sugerentes de anemia por défcit de hierro, en el reporte de colonoscopia se lograron evidenciar múltiples malformaciones venosas (MV), diseminadas con predominio rectal, el diagnóstico fue compatible con Síndrome de Bean por la asociación de MV en piel y tracto Gastrointestinal, además de anemia crónica secundaria. El manejo fue clínico sintomático y quirúrgico paliativo, con una evolución favorable. La asociación de albinismo y el síndrome de Bean no están reportadas en la literatura médica internacional, considerándose este el primer caso en Ecuador como una patología no muy frecuente, pero con complicaciones secundarias importantes. Se debería incluir este síndrome como una causa de malformaciones venosas inocuas, sangrado digestivo, anemia crónica y efectos oclusivos de vísceras huecas.

Blue Rubber Bleb Nevus syndrome (BRBNS) or its acronym Bean syndrome is characterized by venous malformations (MV) distributed in multiple anatomical areas, predominantly in the skin and gastrointestinal (GI) tract. Symptomatology is commonly manifested with hemorrhagic episodes and consequent chronic secondary anemia due to defcit. We present the clinical case of a female albino patient of 68 years of age, who came for acute abdominal pain to this we add a chronic rectorrhagia, when performing the physical examination, the presence of venous malformations (MV) characterized by bluish, compressible and heterogeneous nodules, located in the lower lip, chin, perianal region and extremities, as well as pain on palpation in the right hypochondrium. The laboratory analysis revealed low hemoglobin and hematocrit values and other parameters suggestive of iron defciency anemia, in the colonoscopy report multiple venous malformations (MV) were disseminated, disseminated with rectal predominance, the diagnosis was compatible with Bean Syndrome by the association of MV in skin and Gastrointestinal tract and secondary chronic anemia. The management was clinical symptomatic and palliative surgery, with a favorable evolution. The association of albinism and Bean syndrome are not reported in the international medical literature, considering this the frst case in Ecuador as a not very frequent pathology but with important secondary complications, this syndrome should be included as a cause of harmless venous malformations, digestive bleeding, chronic anemia and occlusive effects of hollow viscera.

Síndrome de griscelli: reporte de caso / Griscelli Syndrome: Case Report

El síndrome de griscelli es una rara entidad, se engloba dentro de los síndromes de pelos plateados y se caracteriza por albinismo parcial. Fue descrito en 1978 en dos pacientes por Griscelli et al. Desde entonces se han descrito más de 40 casos en la literatura. Es una enfermedad de carácter autosómico recesivo. Se clasifica en tres diferentes tipos. Su tratamiento y pronóstico dependerá de cada uno de ellos. Caso clínico: Se trata de paciente de 1 año de edad que ingresa al Hospital Mario Catarino Rivas con historia de presentar convulsiones y somnolencia, con cuadro respiratorio sobreagreado. Antecedente hospitalario por neumonía grave, y color de pelo plateado desde su nacimiento. Discusión: los casos de síndrome de griscelli en Honduras son sumamente raros, dicho paciente ingresa a esta institución por manifestaciones neurológicas secundarias a su enfermedad, al ver su fenotipo, se investigó por dicho síndrome...(AU)

Vivir con albinismo: la otra realidad enfermedad, discriminación, superstición, brujiría, mutilación y muerte / Living with albinism: the other reality disease, discrimination, superstition, witchcraft, mutilation and death

En todo el mundo hay albinos, pero en el África la cantidad de albinismo es 8 veces mayor a la de los demás países, encontrándose 1 albino por cada 4000 personas y de estas, la mayoría esta en Tanzania, donde hay 1 albino por cada 1.400 habitantes, por eso se la llama "la capital del albinismo".

O cuidado à saúde de pessoas com albinismo: uma dimensão da produção da vida na diferença / Health care of persons with albinism: a dimension of life production in difference

Resumo: O cuidado à saúde das pessoas com albinismo perpassa a invisibilidade social do grupo populacional, o acesso à informação e aos serviços de saúde, a integralidade do cuidado e a multiplicidade na produção da vida. O objetivo do estudo é discutir o cuidado à saúde de pessoas com albinismo e familiares. Estudo descritivo com abordagem qualitativa, desenvolvido no Instituto Benjamin Constant (IBC). A coleta dos dados ocorreu entre abril e maio de 2012, utilizando a entrevista individual semiestruturada com dez participantes, pessoas com albinismo / familiares, sendo: dois alunos do IBC, seis mães, uma avó e uma ex-aluna usuária do serviço de oftalmologia. Destacamos na intersetorialidade, a relação da saúde com a educação e a seguridade social. Há carência de formulação e efetivação das políticas sociais, dispositivos normativos, como possibilidade de superação da invisibilidade social e da garantia do direito à saúde. A vida das pessoas com albinismo extravasa a deficiência e a diferença, e demanda a efetivação de dispositivos normativos, processos singulares e subjetivos para a produção do cuidado no cotidiano das práticas em saúde. Mais que saberes dados, exige escuta, relações horizontais e coprodutivas para o cuidado em saúde.

Abstract The healthcare of people with albinism goes beyond the social invisibility of this population group, access to information and health services, comprehensive care and multiplicity in life production. The aim is to discuss the health care of people with albinism and their family. Descriptive study with a qualitative approach was developed at Benjamin Constant Institute (IBC). Data collection took place between April and May of 2012, using semi-structured individual interviews with ten participants, people with albinism / family, as follows: two students of IBC, six mothers, a grandmother and a user of the ophthalmology service. Highlighting the intersectionality, health related education and social security. There is a lack of formulation and execution of social policies, regulatory requirements, as the possibility of overcoming social invisibility and ensuring the right to health. The lives of people with albinism goes beyond disability and difference and demand the fulfillment of regulatory requirements, unique and subjective processes for the production of care in daily health practices. More than data knowledge, they require listening, horizontal relations and co-production for health care.

Perfil do paciente albino com visão subnormal e melhoria da acuidade visual com a adaptação de recursos ópticos e/ou eletrônicos / Profile of albinism with low vision and improvement of visual acuity with the adaptation of optical and / or electronic resources

RESUMO Objetivo: Determinar o perfil do paciente albino no departamento de visão subnormal do Instituto Benjamin Constant. Ressaltar o tempo de acompanhamento, a frequência do seguimento, e a melhora visual com a adaptação de recursos ópticos e/ou eletrônicos. Métodos: Estudo retrospectivo com dados de 77 pacientes albinos com idade entre 1 a 53 anos de idade atendidos no Instituto Benjamin Constant, entre 2003 e 2014. Resultados: O recurso óptico mais adaptado foi o telescópio de Galilleu 2.8x. Todos os pacientes referiram ganho de visão com os equipamentos. A maioria dos pacientes apresentaram acuidade visual com recursos ópticos entre 20/25 e 20/160. Conclusão: Os recursos ópticos auxiliaram na melhora da função visual e na qualidade de vida dos pacientes com albinismo ocular.

ABSTRACT Objective: Determine the profile of albinism in Low Vision Department of Benjamin Constant Institute. Highlight the follow-up, the frequency of follow-up, and the visual improvement with the adaptation of optical and / or electronic resources . Methods: A retrospective study with data from 77 patients with ocular albinism aged 1- 53 years old attended at Benjamin Constant Institute between 2003 and 2014. Results: The most suitable optical feature is the telescope Galilleu 2.8x . All patients reported gain vision with the resources . Most patients experienced visual acuity with optical devices between 20/25 - 20/160 . Conclusion: Optical resources assisted in the improvement of visual function and quality of life of patients with ocular albinism.

Visual deficits in Nepalese patients with oculocutaneous albinism.

BACKGROUND: Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism (OCA) attending to a tertiary eye hospital in Nepal. METHODS: This was a cross-sectional descriptive hospital-based study of all diagnosed oculocutaneous albinotic cases (16 males and 9 females; mean age of 16 years) who visited the Department of Ophthalmology at the Institute of Medicine, for ocular consultation between September 1, 2011 and December 1, 2013. RESULTS: Twenty-five cases (50 eyes) with OCA were enrolled in the study. All the participants had maximally reduced visual acuity (mean: 1.24±0.50logMAR). Myopic astigmatism was the most common refractive error (n=17; 34%). 58% of all participants had with-the-rule astigmatism. Considering the spherical equivalent power, most of the eyes (n=30; 60%) had myopia, with overall mean SE refractive error of -1.59±5.39D. Visual acuity improved significantly with refractive correction in place (paired sample t-test, p<0.05). Horizontal pendular nystagmus was the most common nystagmus (n=34 eyes; 68%). Alternating esotropia and alternating exotropia each were observed in 16% of participants who had strabismus (40% of all cases). The diaphanous iris, foveal hypoplasia and poliosis were the most consistent clinical features. CONCLUSION: Patients with OCA present with a broad spectrum of visual deficits that impair the visual functions. Significant improvement in visual acuity following optical correction serves as an impetus to the reduction of visual disabilities in individuals with albinism.

Mellizas con albinismo oculocutáneo / Twins with oculocutaneous albinism

El albinismo oculocutáneo (AOC) comprende un grupo de trastornos de herencia autosómica recesiva, producidos por una alteración en la vía sintética de la melanina en la piel, el peloy los ojos. Clínicamente se caracteriza por lahipopigmentación cutánea, ocular y pilar, asociada a alteraciones oculares, como fotofobia severa, disminución de la agudeza visualynistagmo. El AOC tipo 1es producido por mutaciones en latirosinasa, enzima codificada por el genTYR (11q14-q21), habiéndose identificado más de 270 mutacioneshasta la fecha. Presentamos el caso de mellizasnacidas pretérmino, de 14 meses de vida, producto de un embarazo controlado, con AOC. Destacamos la escasa frecuencia de presentación de esta patología en pacientes mellizos.

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a defective synthesis of melanin in the skin, hair and eyes. It is clinically characterized by a generalized reduction of pigment in the skin, eyes and hair, associated with ocular alterations, as severe photosensitivity, reduced vision and nystagmus.The OCA type 1 is caused by mutations in the tyrosinase, enzyme that is codified by TYR (11q14-q21), with more than 270 mutations identified up to date. We report the case of preterm 14 month-olddizygotic females twinsfrom a controlled pregnancy, with OCA. We emphasize the low frequency of presentation of this disease in dizygotic twins.

Macular pigment optical density spatial distribution measured in a subject with oculocutaneous albinism.

PURPOSE: Previous studies of macular pigment optical density (MPOD) distribution in individuals with oculocutaneous albinism (OCA) have primarily used objective measurement techniques including fundus reflectometry and autofluorescence. We report here on a subject with OCA and their corresponding MPOD distribution assessed through heterochromatic flicker photometry (HFP). METHODS: A subject with a history of OCA presented with an ocular history including strabismus surgery of the LE with persistent amblyopia and mild, latent nystagmus. Best corrected visual acuity was 20/25- RE and 20/40- LE. Spectral domain optical coherence tomography (SD-OCT) and fundus photography were also obtained. Evaluation of MPOD spatial distribution up to 8 degrees eccentricity from the fovea was performed using HFP. RESULTS: SD-OCT indicated a persistence of multiple inner retinal layers within the foveal region in the RE and LE including symmetric foveal thickening consistent with foveal hypoplasia. Fundus photography showed mild retinal pigmented epithelial (RPE) hypopigmentation and a poorly demarcated macula. OriginPro 9 was used to plot MPOD spatial distribution of the subject and a 33-subject sample. The OCA subject demonstrated a foveal MPOD of 0.10 with undetectable levels at 6 degrees eccentricity. The study sample showed a mean foveal MPOD of 0.34 and mean 6 degree eccentricity values of 0.03. CONCLUSIONS: Consistent with previous macular pigment (MP) studies of OCA, overall MPOD is reduced in our subject. Mild phenotypic expression of OCA with high functional visual acuity may represent a Henle fiber layer amenable to additional MP deposition. Further study of MP supplementation in OCA patients is warranted.