Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues

Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition. This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology, genetics and genetic counselling, health, psychosocial and cultural issues, and medical care. There are several recessively inherited types of OCA and a mutation, responsible for about 80%of South African variants, has been identified in OCA type 2. The physical characteristics associated with albinism, that is, sun-sensitive skin and low vision, can be managed. However, people with OCA in Africa also experience psychosocial issues, such as discrimination, because of the various superstitious beliefs and attitudes held in the community. Management should include medical care for health problems, appropriate adjustment of the schooling context and genetic counseling. In addition, widespread public awareness programs are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community, to reduce the marginalization and stigmatization of people with albinism and to improve their quality of life.

Ações estratégicas de cuidado em saúde para pessoas com albinismo: orientações técnicas para gestores e trabalhadores da atenção primária à saúde / Strategic Actions of Health Care for People with Albinism. Technical Guidelines for Managers and Primary Health Care Workers

O presente documento visa orientar os gestores, os trabalhadores, os profissionais de saúde da APS, as pessoas com albinismo e a sociedade em geral quanto às necessidades de saúde desse segmento, ampliando o escopo de atuação e o cuidado junto a essa população, perpassando desde a sua conceituação até a proposição de ações estratégicas de saúde nas três esferas governamentais.

Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic variation of a Chinese family affected with congenital insensitivity to pain with anhidrosis and albinism.@*METHODS@#Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband and his parents. Whole genome sequencing (WGS) was applied when variants were not found completely. Suspected variants were validated by Sanger sequencing.@*RESULTS@#WES has identified a heterozygous c.1729G>C (p.G577R) variant of NTRK1 gene and two heterozygous variants of OCA2 gene, namely c.1363A>G (p.R455G) and c.1182+1G>A. WGS has identified two additional heterozygous variants c.(851-798C>T; 851-794C>G) in deep intronic regions of the NTRK1 gene.@*CONCLUSION@#The compound heterozygous variants of the NTRK1 gene probably underlay the congenital insensitivity to pain with anhidrosis. And the compound heterozygous variants of the OCA2 gene probably underlay the albinism in the proband. In the case where no variant is detected by WES in the coding region, WGS should be considered to screen potential variants in the whole genome.

Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test (cfBEST) for the prenatal diagnosis of oculocutaneous albinism type I in a family.@*METHODS@#Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis. The outcome of the pregnancy was followed up.@*RESULTS@#Non-invasive prenatal testing based on cfBEST showed a fetal DNA concentration of 6.6%, with the proportion of c.929_930insC (p.Arg311Lysfs*7) and c.1037-7T>A mutations being 45.7% and 0%, respectively. The posterior frequency of the negative results was 1, suggesting that the fetus carried neither of the two mutations. The result was consistent with that of invasive prenatal diagnosis, and the follow-up found that the fetus was normal.@*CONCLUSION@#Non-invasive prenatal testing based on cfBEST can be used to detect maternal and fetal genotypes in maternal cell-free DNA, which is clinically feasible.

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.

First report of complete albinism in Mazama americana (Erxleben, 1777) in the Biological Reserve of Tapirapé, Oriental Amazon, Brazil

Albinism is a genetic condition that results in total hypopigmentation of the eyes, fur, skin, hair, scales, and feathers of an organism. Albinism might result in a selective disadvantage for affected animals. Cases of albinism have been previously recorded in Neotropical vertebrates, such as reptiles, mammals, birds, and fish. However, observing albinism in a wild population is still considered to be a rare event. This paper reports a unique case of complete albinism in a red-brocket deer (Mazama americana) living in the Brazilian Amazon rainforest. The individual was observed within the Biological Reserve of Pará State, one of the most deforested regions of the Brazilian Amazon. The survival of the albino red-brocket deer in the wild can be related to mechanisms of apostatic selection, which theorize the survival of individual prey animals whose mutations make them less likely to be attacked by predators. In other words, the more different a prey animal is from others, the less likely it will be targeted by predators. The high abundance prey animals within the Biological Reserve of Tapirapé seems to support this prediction. This report exemplifies the importance of monitoring the biodiversity and promoting the conservation of favorable habitats to support species multiplicity in highly fragmented regions, as in the Brazilian Amazon.

Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors

Abstract Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at increased risk of actinic damage and skin cancer. In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. In several regions of the country, individuals with albinism have no access to resources or specialized medical care, and are often neglected and deprived of social inclusion. Brazil is a tropical country, with a high incidence of solar radiation during the year nationwide. Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death. Skin monitoring of these patients and immediate therapeutic interventions have a positive impact in reducing the morbidity and mortality associated with this condition. Health education is important to inform albinos and their families, the general population, educators, medical professionals, and public agencies about the particularities of this genetic condition. The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characteristics of albinism, with a focus in skin changes caused by this rare pigmentation disorder.

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.

Evaluation of the repeated exposure of hexaflumuron on liver and spleen tissues and its mutagenicity ability in male albino rat

Background: Hexaflumuron (HFM) is an insect growth regulator (IGR); it is highly effective against a wide range of pests. Aim of the work: Due to the lack of toxicological assessments of this insecticide especially the formulation type, the objective of the present study was aimed to investigate the toxicological effects of repeated exposure of HFM formulation on adult albino rats. Materials and methods: Three groups were administered daily by gavage for (28 days) at dose of 11, 4, and 2.5 mg/kg b.wt respectively. In addition to control group. Results: The results of acute toxicity indicated HFM exhibited moderate to some extent high toxicity toward the treated rats. Slight tremors and bleeding from nose were observed. The repeated exposure results revealed the high and middle doses exhibited methemoglobinemia. Also, the HFM treatment led to increase in AST and ALT levels. The urea and creatinine levels were not significantly increased except the level of creatinine in high dose. According to the histopathological findings the middle and low doses of HFM revealed greater injurious in liver and spleen tissues than induced by high dose. HFM induced a statistically significant increase in the micronucleus (MN) frequency in a dose-dependent manner compared with a negative control group. Conclusion: So, it is obvious the middle and low doses induced damage in the liver and spleen organs while the high dose induced damage in blood, bone marrow, and kidney organs

Assessment of the impact of changes in temperature in Biomphalaria glabrata (Say, 1818) melanic and albino variants infected with Schistosoma mansoni (Sambon, 1907) / Avaliação de impacto de alterações na temperatura em Biomphalaria glabrata variantes melânica e albina infectadas com Schistosoma mansoni

Abstract Fluctuations in population density of planorbid hosts of S. mansoni are influenced by climatic factors. The knowledge about interference from changes in water temperature in these populations is an important aspect of the epidemiology of schistosomiasis. In this experiment, it is explored the influence of different temperatures on the development of Schistosoma mansoni in Biomphalaria glabrata melanic and albino variants. The results indicated an intrinsic relationship between temperature and development of the parasite in the intramollusc phase, independent of the pigmentation of the mantle of the molluscs. The higher the temperature, the shorter the period necessary for the development of the parasite was while the higher the mortality of infected mollusks. It is concluded that, in the presence of climate change, the increasement of temperature in cold and flooded regions may encourage the establishment of new foci of transmission of schistosomiasis by changing the geographic extent and extending the epidemiological transmission potential. In warm climates, higher temperatures, however, could compromise the transmission of the disease because of biological stress suffered by parasite and host. Under these conditions, it can result in the death of the parasite or a change in their ability to infect new host species of molluscs in new areas. Mantle pigmentation patterns in molluscs have not shown significant interference in the development of the parasite.

Resumo Flutuações na densidade populacional de planorbídeos hospedeiros do S. mansoni são influenciadas por fatores climáticos. O conhecimento sobre a interferência de alterações na temperatura da água nestas populações é um aspecto importante da epidemiologia da esquistossomose. Neste experimento avaliou-se a influência de diferentes temperaturas no desenvolvimento de Schistosoma mansoni em Biomphalaria glabrata variantes melânica e albina. Os resultados indicaram uma relação intrínseca entre temperatura e desenvolvimento do parasito na fase intramolusco, independente da pigmentação do manto dos moluscos. Quanto mais elevada a temperatura, menor o período necessário para desenvolvimento do parasito e maior mortalidade dos moluscos infectados. Conclui-se que, na presença de alterações climáticas, o aumento da temperatura em regiões frias e alagadas poderá favorecer o estabelecimento de novos focos de transmissão da esquistossomose alterando a extensão geográfica e ampliando o potencial epidemiológico da transmissão. Em regiões de clima quente, o aumento da temperatura, por sua vez, poderá comprometer a transmissão da doença em virtude do estresse biológico sofrido por parasito e hospedeiro. Nestas condições, poderá ocorrer a morte do parasito ou uma alteração na sua habilidade de infectar novas espécies de moluscos hospedeiros em novas áreas. Padrões de pigmentação do manto nos moluscos não demonstraram interferência significativa no desenvolvimento do parasita.

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.

The Structural and Functional Changes Indcuced By Lithium on The Renal Cortex of Growing Albino Rats: Ultrastructure and Laboratory Study.

Introduction: Lithium is a therapeutic agent currently used for the treatment of aff ective disorders controlling a variety of neurotic and psychosomatic manic depressions. Th e main objective of the present work was to demonstrate the histopathological eff ects of the therapeutic doses of Lithium on the renal tubules and glomeruli in growing albino rats. Material and Methods: Th irty growing male Sprague – Dawley albino rats were used in this study. Th e rats were divided into a control group formed of 6 rats and an experimental group formed of 24 rats which received a daily therapeutic dose of 20 mg Lithium/kg body weight by the same route for 7 weeks. Th e renal cortex in all animals is examined by light and electron microscopes. Blood was collected from the sacrifi ced animals for serum creatinine, urea, sodium and potassium to access the eff ect of lithium administration in a therapeutic dose on renal function. Results: Th e present work revealed that the therapeutic doses of Lithium induced nephrotoxicity in the form of degeneration and necrosis in the renal tubules and glomeruli. Alteration in the cellular fi ne structure and degenerated cytoplasm and cytoplasmic organelles were found revealing cellular degeneration and necrosis. Glomerulosclerosis and congestion were the predominant eff ect on the renal glomeruli. Conclusion: Histological and ultrastructrual features of Lithium nephrotoxicity were detected in the current study with therapeutic doses of Lithium.

Findings of Eye Screening Examinations with Wide-Field Digital Imaging System in Healthy Newborns

PURPOSE: To present the results of eye screening examinations using RetCam in healthy newborns. METHODS: Eye screening examinations were performed using the RetCam wide-field digital imaging system (Clarity Medical System, Pleasanton, CA, USA), as requested by parents, on healthy newborns within a week after birth in an obstetrics and gynecology hospital between June 2012 and September 2014. During the examination, photographs were taken showing red reflex and the fundus. The reading was conducted by a pediatric ophthalmologist. RESULTS: The examinations included a total of 10,023 newborn babies, and abnormalities were discovered in 2,916 patients (29.09%). The most commonly found abnormality was retinal hemorrhage, which was discovered in 2,796 babies (27.89%) and 471 patients showed a large amount of bleeding or macular hemorrhage. In 71 patients (0.7%), ophthalmologic examination was recommended after newborns presented with one of the following conditions: congenital cataracts, retinoblastoma, persistent hyperplastic primary vitreous, vitreous hemorrhaging, persistent pupillary membrane, choroidal nevus or albinism. Due to unclear photographs, 85 eyes of 49 patients (0.48%) could not be read. CONCLUSIONS: Ophthalmologic screening using RetCam is a safe, simple and useful technique for discovering ophthalmologic abnormalities. Additionally, when abnormalities are suspected, the role of a pediatric ophthalmologist is increasingly important in helping patients receive appropriate ophthalmologic treatment. Furthermore, retinal hemorrhage, which occurred in the majority of all observed abnormalities, requires further investigation to examine the possibilities of amblyopia in cases with a large amount of bleeding or macula involvement.

Melanoma maligno gastrointestinal en paciente albino: a propósito de un caso / Gastrointestinal melanoma in an albino patient: Report of a case

Los albinos tienen predisposición al padecimiento de determinados tipos de cáncer cutáneo, pero el melanoma no es común. Entre los pocos artículos que documentan su aparición en estos pacientes, la afección gastrointestinal por melanoma aparece con relativa frecuencia, ya sea en forma de tumor primario o metástasis. Se presenta el caso de una paciente mujer de 70 años con una lesión gástrica y otra intestinal, detectadas mediante tomografía computada. El estudio anatomopatológico fue compatible con el diagnóstico de melanoma amelanótico. Pese a su escasa incidencia en albinos, el melanoma es una opción que no puede descartarse. Es importante, además, revisar los diferentes componentes del tracto gastrointestinal ante la existencia (o no) de un melanoma primario conocido...

Diagnóstico e tratamento do câncer de pele em albinos: estudo descritivo / Diagnosis and treatment for skin cancer in albinos: a descriptive study

Introdução: Descrever a casuística envolvendo albinos, quanto à forma de apresentação, local, tratamento e acompanhamento dos tumores de pele. Métodos: Estudo descritivo, retrospectivo, de Abril à Julho de 2011, analisando um total de doze prontuários. Buscando nos resultados histopatológicos, e nas descrições dos procedimentos cirúrgicos, reunir e reportar dados específicos. Resultados: Doze pacientes albinos apresentaram 273 lesões e foram estudados. Oito homens e 4 mulheres, com idades variando entre 23 e 80 anos, sendo a maioria acima de 40 anos (92%). A localização mais comum das lesões foi na cabeça e pescoço, sendo o tipo histológico mais frequente o CBC (Carcinoma Basocelular) (36,63%), seguido do CEC. Algumas lesões também encontradas foram carcinoma tricoblástico, sarcoma de alto grau, verruga vulgar, melanoma in situ e Doença de Bowen. Em média os pacientes foram acompanhados, por 98,6 meses. Dentre os procedimentos cirúrgicos realizados o mais comum foi à realização de síntese primária (82,41%) e em segundo lugar os retalhos, sendo dois microcirúrgicos (VRAM e RALC). Os tamanhos das lesões foram divididos em menores ou iguais a 4 cm (80,20%) e maiores do que 4 cm (19,80%). Conclusão: Através de uma breve agregação de dados foi possível descrever uma casuística com dados semelhantes aos expostos na literatura internacional, apesar da escassez dos mesmos, possibilitando uma comparação e demonstração entre a relação sobre albinismo e tumores de pele, porém novas séries descritivas com mais pacientes são necessárias para melhor avaliação global. Assim a prevenção continua sendo a melhor forma de monitoramento e acompanhamento dos pacientes portadores de albinismo.

Introduction: To describe a case series involving albinos as to the form, location, treatment and monitoring of skin tumors. Methods: A descriptive, retrospective from April to July 2011, analyzing a total of twelve charts. Seeking the histopathologic results, and descriptions of surgical procedures, collect and report specific data. Results: Twelve patients had albinos and 273 injuries were studied. Eight men and 4 women, aged between 23 and 80 years, the majority being over 40 years old (92%). The most common injuries were to the head and neck being the most common histological type BCC (36.63%), followed by the CEC. Some injuries were also found tricoblástico carcinoma, high-grade sarcoma, verruca vulgaris, melanoma in situ and Bowen's disease. On average, patients were followed for 98.6 months. Among the surgical procedures the most common was the realization of primary synthesis (82.41%) and second flaps, two microsurgical (VRAM and RALC). The sizes of the lesions was divided into equal or lower than 4 cm (80.20%) and higher than 4 cm (19.80%). Conclusion: Using a short data aggregation was possible to describe a sample with similar data exposed in the international literature, despite the lack of them, allowing a comparison and demonstration about the relationship between albinism and skin tumors, but new series with more patients are needed to better overall evaluation. So prevention remains the best way of monitoring and follow-up of patients with albinism.

Bilateral irreversible blindness

To find out the causes of bilateral irreversible blindness in patients of different age groups in District Swabi. It is a prospective observational study of one hundred and eighty nine consecutive blind cases. The study was conducted from July 2010 to June, 2012 at the Ophthalmology Department of District Headquarter Hospital, Swabi. Informed consent was taken from the patient or guardian of the patient. Patients fulfilling inclusion and exclusion criteria were included in the study. A standard proforma was designed and entries were made regarding present, past and family history, thorough ocular examination of every patient was performed on slit-lamp with relevant biomicroscopic aids and posterior segment examination was conducted with direct as well as indirect ophthalmoscope. Biomicroscopy was performed as and when required. lntraocular pressure using schiotz tonometer, corneal diameters, retinoscopy and ocular mobility were noted and relevant investigations were performed when needed. Children and mentally retarded patients were examined using short general anaesthesia. Of 189 patients 61.4% were males and 38.6% were females. Congenital Causes were present in 49.7% and acquired causes in 50.3%. Diseases accounted for 88.9%, trauma in 10.1% and unknown causes in 1.1% cases. Congenital diseases included congenital glaucoma in 35.1%, retinitis pigmentosa in 29.7% and albinism in 19.1% cases. Acquired diseases included primary glaucoma in 33.8%, diabetic retinopathy 23 %, secondary glaucoma in 17.5% and childhood infection in 10.8% cases. Corneal findings included corneal opacity in 31.2%, corneal edema in 4.8% and absent cornea in 7.4%. Optic nerve findings included optic atrophy in 16.4%, glaucomatous optic atrophy in 16.9%, new vessels in 9.5%. Retina findings included retinal dystrophy in 14.3%, maculopathy in 5.3%, chorioretinopathy in 0.5%, vascular retinopathy and hypopigmentation in 9.5% each respectively. Irreversible blindness is more common in children and young adults and mostly males are affected. Glaucoma is the commonest cause followed by retinitis pigmentosa and albinism in this study

People with albinism and skin cancer: a descriptive study

Introduction: Albino people (PA) are more likely to become sunburned, to develop skin lesions and skin cancer then people without this condition. From the Right-to-Health perspective, this study will try to identify PA who have exceeded the skin cancer risk limits. Aims: To identify PA with skin neoplasms; to describe their main characteristics; to find out about their therapeutic route; and to discuss healthcare from the PA's perspective. Method: It is a descriptive study that has been developed in two complementary stages: (i) a sectional study of the PA population who are receiving treatment at the dermatology ambulatory center of the study setting; (ii) this second stage has been carried out using a qualitative approach. The sources of data include medical reports and interviews with the PA participants. The quantitative data will be analyzed through the use of simple statistics. The semi-structured interviews will be transcribed and analyzed using the Content Analysis method. This study has been approved under protocol EEAN/HESFA/UFRJ, no 371.467...

Nueva mutación en el gen RAB27A en una familia mexicana con Síndrome de Griscelli tipo 2 / New RAB27A gene mutation in a Mexican family with type 2 Griscelli syndrome

El síndrome de Griscelli (SG) es una enfermedad autosómica recesiva, caracterizada, según las variantes clínicas, por albinismo parcial o cabello platinado, inmunodeficiencia celular, hipogammaglobulinemia, pancitopenia y severo deterioro neurológico. El diagnóstico se realiza de acuerdo a los hallazgos histopatológicos de la biopsia de piel, las manifestaciones clínicas descriptas y el análisis molecular de los genes RAB27A y MYO5A. Se describe un caso de SG, confirmado mediante estudio molecular, en una familia mexicana con antecedentes de consanguinidad tío paterno-sobrina y una hermana mayor con característiscas similares, fallecida a los 4 años. El paciente, al nacer, había tenido diagnóstico de albinismo. Se presentó a la consulta con historia de infecciones frecuentes y fiebres recurrentes sin foco y se encontró bicitopenia y síndrome mieloproliferativo. Ante la sospecha diagnóstica, se realizó una microscopía del cabello, en la que se observó distribución del pigmento en cúmulos y en los frotis hemáticos se determinó la ausencia de inclusiones intracitoplasmáticas. Se estableció el diagnóstico de SG tipo 2 y se obtuvo una muestra de ADN para el estudio molecular del gen RAB27A. El examen confirmó una mutación homocigota no comunicada previamente, por lo que se dedujo que su hermana había tenido la misma afección y que el padre era portador obligado...

Griscelli syndrome (GS) is an autosomal recessive disease characterized by partial albinism or platinum hair, varying cell immunodeficiency, hypogammaglobulinemia, pancytopenia and severe neurological impairment, depending on clinical variants. The diagnosis is made with histopathological findings in skin biopsy, the clinical manifestations described and molecular analysis of the genes RAB27A and MYO5A. We describe a case of GS, confirmed by molecular study, in a Mexican family with a history of paternal uncle-niece consanguinity and a sister with similar characteristics, deceased at 4 years old. At birth, the patient was diagnosed as albinism. He presented to us with a history of frequent infections and recurrent fevers of unknown origin and a bicytopenia and a myeloproliferative syndrome were found. With diagnostic suspicion, a mycroscopic study of the hair was done and the findings were consistent with pigment distribution in clusters and in hematological smears the absence of intracytoplasmic inclusions was demonstrated. Therefore the diagnosis of GS type 2 was established and a DNA sample was obtained for RAB27A gene molecular study. The exam confirmed a previously unreported homozygous mutation in the gene RAB27A, so it was established that his sister had the same condition and the father was a forced carrier...

Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil / Hereditary diseases and congenital defects diagnosed in water buffalo (Bubalus bubalis) in Brazil

A review on hereditary diseases and/or congenital defects diagnosed in water buffaloes in Brazil is performed. The epidemiological, clinical and pathological aspects of each disease or group of diseases are briefly described. Hereditary diseases include acantholytic mechanobullous dermatosis, arthrogryposis, myotonia, hydranencephaly, chondrodysplasia, and albinism. Congenital defects of unknown cause include megaesophagus, heart defects (patent ductus arteriosus), dermatosparaxia, and different defects of the reproductive system. The breeds most affected by genetic diseases are those from Asian Continent (Murrah and Jafarabadi), probably as a result of inbreeding in Brazilian herds due the prohibition of importation of breeding buffalo from that continent. The diagnosis of two hereditary diseases, arthrogryposis and myotonia, in Rio Grande do Sul (southern Brazil) and Pará (nothern Brazil) suggests that the undesirable genes are widespread in the buffalo population. The identification of these genes by molecular techniques associated with the buffalo breeding with correct sanitary, zootechnical, and reproductive control practices can decrease the negative effects of genetic diseases in the Brazilian buffalo herd.

É realizada uma revisão sobre as doenças hereditárias e/ou defeitos congênitos diagnosticados em búfalos no Brasil. São descritos brevemente os aspectos epidemiológicos, clínicos e patológicos de enfermidades hereditárias ou provavelmente hereditárias já observadas no Brasil, como dermatose mecanobolhosa, artrogripose, miotomia, hidranencefalia, condrodisplasia e albinismo; e dos defeitos congênitos que não tem uma causa ainda comprovada como megaesôfago, defeitos cardíacos (persistência do ducto arterioso), dermatosparaxia, defeitos no sistema reprodutivo e outros defeitos. Observou-se que as raças mais afetadas por enfermidades de natureza genética são as que têm origem no Continente Asiático (Murrah e Jafarabadi), provavelmente em consequência da consanguinidade existente nos rebanhos devido a proibição da importação de reprodutores, sêmen e embriões daquele continente. O diagnóstico de duas dessas doenças, artrogripose e miotomia hereditária no Rio Grande do Sul e no Pará, demonstra que os genes indesejáveis estão disseminados na população de búfalos no país e que a identificação desses genes por meio de técnicas moleculares associada à criação desta espécie com maior controle sanitário, reprodutivo e zootécnico pode minimizar os prejuízos decorrentes dessas enfermidades à bubalinocultura.