Coroideremia familiar: reporte de caso con énfasis en la evolución clínica y adquisición de discapacidad visual / Familiar choroideremia: case report with emphasis on clinical evolution and acquisition of visual impairment

Resumen La coroideremia es una enfermedad retiniana hereditaria que se caracteriza por la degeneración progresiva coriocapilar de coroides y retina; esta tiene la capacidad de limitar el funcionamiento y generar discapacidad, afectando el desempeño de la persona en el ámbito familiar, social y profesional, al producir dificultades en la comunicación, la movilidad, el desplazamiento y la gestión de su diario vivir. Esta condición de salud ocular se origina por una mutación del gen que codifica la proteína RabEscort-1, ubicada en el cromosoma Xq21. Su fisiopatología no es clara, y los reportes de caso de coroideremia familiar son escasos en Latinoamérica. Se reporta el caso de un hombre de 54 años con nictalopía y pérdida progresiva de agudeza visual, con un hermano menor con coroideremia y primo materno con sospecha de dicha enfermedad, con énfasis en evolución clínica, hallazgos al fondo de ojo y progresión a discapacidad categoría visual, tipo baja visión. MÉD.UIS. 2020;33(2):109-115.

Abstract Choroideremia is a hereditary retinal disease characterized by progressive choroidal and retinal choriocapillary degeneration, it has the ability to limit functioning and generate disability, affecting the persons performance in the family, social and professional environment, by causing difficulties in communication, mobility, displacement and management of your daily life. This eye health condition is caused by a mutation of the gene that encodes the RabEscort-1 protein, located on the Xq21 chromosome. His pathophysiology is not clear, and case reports of familial choroideremia are sparse in Latin America. The case of a 54-year-old man with night blindness and progressive loss of visual acuity is reported, with a younger brother with choroideremia and maternal cousin with suspected disease, with emphasis on clinical evolution, fundus findings and progression to disability category visual, low vision type. MÉD.UIS. 2020;33(2):109-115.

Clinical phenotype and genotype analysis of the family with the Usher syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation.@*METHODS@#Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The proband developed night blindness at 10 year old, in addition with bilateral cataract and retinal degeneration. Hearing loss occurred along with increase of age. High-throughput sequencing and Sanger sequencing revealed that she has carried compound heterozygous variants of the MYO7A gene, namely c.2694+2T>G and c.6028G>A. Her sister carried the same variants with similar clinical phenotypes. Her daughter was heterozygous for the c.6028G>A variant but was phenotypically normal.@*CONCLUSION@#The clinical features and genetic variants were delineated in this family with Usher syndrome type I. The results have enriched the phenotype and genotype data of the disease and provided a basis for genetic counseling.

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea. METHODS: Medical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD. RESULTS: Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. ABCA4 was the most common causative gene associated with IRD and was responsible for causing Stargardt disease (n = 6), RP (n = 1), and cone dystrophy (n = 1). In particular, mutations in EYS were found in 4 of 14 autosomal recessive RP (29%). All cases of Stargardt disease had a mutation in the ABCA4 gene with an autosomal recessive trait. CONCLUSION: This study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.

Estado nutricional de vitamina A na gravidez e associação com desfechos materno-infantis no estudo MINA-Brasil / Vitamin A status during pregnancy and its association with mother-infant outcomes in the MINA-Brazil study

Introdução - Exposições adversas relacionadas ao estado nutricional na gestação têm sido associadas a desfechos desfavoráveis para a saúde materno-infantil. Nesse contexto, a deficiência de vitamina A (VA) é uma das carências nutricionais mais relevantes para a saúde dessa parcela da população, especialmente nos países em desenvolvimento. Objetivos - a) investigar preditores da concentração de retinol sérico no início do terceiro trimestre de gestação (Artigo 1), b) investigar a associação entre estado nutricional de VA durante a gestação e anemia materna no parto e peso ao nascer (Artigo 2) e c) investigar a prevalência e fatores associados com a cegueira noturna gestacional (XN) e anemia materna no parto (Artigo 3) em Cruzeiro do Sul, Acre, Amazônia Ocidental Brasileira. Métodos - Trata-se de estudo de coorte de nascimentos (MINA-Brasil: Saúde e Nutrição Materno-Infantil no Acre), a partir do recrutamento de gestantes do município. Entre fevereiro/2015 e maio/2016, gestantes inscritas no prénatal da área urbana foram rastreadas (n = 587) e dois inquéritos realizados: 1ª avaliação com 16-20 semanas de gravidez e a 2ª avaliação com 27-30 semanas de gestação. Informações sobre condições sociodemográficas, ambientais, histórico de saúde e estilo de vida, medidas antropométricas, coleta de sangue em jejum e exame de ultrassonografia foram obtidas pela equipe de pesquisa. Posteriormente, entre julho/2015 e junho/2016, foi realizado registro diário das internações para parto na única maternidade do município com coleta de informações sobre desfechos de interesse para o presente estudo. Modelos de regressão múltiplos de Poisson e lineares foram utilizados nas análises estatísticas, ao nível de significância P<0,05. Resultados - No Artigo 1 (n = 422), a presença de fumante no domicílio foi inversamente associado às concentrações de retinol sérico na gravidez (ß: -0,087; IC 95%: -0,166, -0,009); por outro lado, a sazonalidade (inverno amazônico - ß: 0,134; IC 95%: 0,063, 0,206), o consumo semanal de frutos amazônicos (ricos em carotenoides - ß: 0,087; IC 95%: 0,012, 0,162) e a concentração de retinol entre 16-20 semanas de gestação (ß: 0,045; IC 95%: 0,016, 0,074) foram positivamente associados à concentração de retinol sérico no início do terceiro trimestre gestacional. No Artigo 2 (n = 488), independente do momento avaliado na gestação, a deficiência de VA foi associada ao risco para anemia materna (RP: 1,39; IC 95%: 1,05, 1,84) e inversamente associada com as concentrações de hemoglobina materna no parto (ß: -3,34; IC 95%: -6,48, -0,20), após ajuste para covariáveis. No mesmo sentido, associação inversa também foi observada para o peso ao nascer (ß: -0,10; IC 95%: -0,20, -0,00), contudo, perdendo a significância estatística após ajuste para concentrações de ferritina plasmática. No Artigo 3 (n = 1.525), altas prevalências de cegueira noturna gestacional (11,54%) e anemia materna no parto (39,38%) foram encontradas nesta população. Os fatores associados à cegueira noturna foram o número de pessoas no domicílio (cinco ou mais- RP: 2,06; IC 95%: 1,24, 3,41), fumo na gestação (RP: 1,78; IC 95%: 1,15, 2,78) e ter realizado menos de seis consultas de pré-natal (RP: 1,61; IC 95%: 1,08, 2,40). Os fatores associados à anemia materna foram: ser adolescente (< 19 anos - RP: 1,18; IC 95%: 1,01, 1,38), malária na gestação (RP: 1,22; IC 95%: 1,01, 1,49), não ter usado suplementos na gestação (RP: 1,27; IC 95%: 1,01, 1,62) e o número de consultas de pré-natal (< 6 consultas - RP: 1,40; IC 95%: 1,15, 1,70) Conclusão - Em município da Amazônia Ocidental Brasileira, a carência de VA associou-se ao risco para anemia no parto e foi inversamente associada à hemoglobina materna e o peso ao nascer do bebê. Estratégias e ações para promoção da alimentação saudável e nutrição da mulher no pré-natal precisam ser reavaliadas visando redução dos efeitos adversos da carência de VA para o binômio mãe-filho

Introduction - Adverse exposures related to antenatal nutrition care have been associated with poor maternal and child outcomes. In this sense, vitamin A (VA) deficiency is a relevant public health issue for this vulnerable population, especially in developing countries. Objectives - a) to investigate the predictors of serum retinol at the beginning of the third trimester of pregnancy (Article 1), b) to investigate associations between the VA status during pregnancy with the occurrence of maternal anemia and birth weight (Article 2), and c) to investigate the prevalence, as well as the associated factors with gestational night blindness and maternal anemia (Article 3) in Cruzeiro do Sul, Acre State, Western Brazilian Amazon. Methods - Prospective birth cohort study (MINA-Brazil: Maternal and Child Health and Nutrition in Acre State), starting with recruitment of pregnant women. Between February/2015 and May/2016, pregnant women registered in antenatal clinics in the urban area of Cruzeiro do Sul were screened (n = 587) and two follow-up surveys were performed: the 1st one between 16 to 20 weeks of pregnancy and the 2nd one between 27 to 30 weeks of pregnancy. Socioeconomic, environmental, health history and lifestyle, anthropometric measures, blood samples, and ultrasounds data were gathered by the research team. Subsequently, between July/2015 and June/2016, daily visits to the municipal maternity hospital were performed in order to register all births and the outcomes of interest for this study. Multiple Poisson and linear regression models were used for statistical analysis, at P <0.05. Results - In the Article 1 (n = 422), having a smoker in the household was inversely associated with serum retinol in pregnancy (ß: -0.087; 95% CI: -0.166, - 0.009); on the other hand, the seasonality (Amazonian winter - ß: 0.134; 95% CI: 0.063, 0.206), the weekly consumption of Amazonian carotenoid-rich fruits (ß: 0.087; 95% CI: 0.012, 0.162), and serum retinol in the first assessment (ß: 0.045; 95% CI: 0.016, 0.074) were positively associated with serum retinol at the beginning of the third trimester of pregnancy. In the Article 2 (n = 488), regardless the period assessed, VA deficiency was associated with the risk for maternal anemia (PR: 1.39; 95% CI: 1.05, 1.84), as well as it was inversely associated with maternal serum hemoglobin (ß: -3.34; 95% CI: -6.48, - 0.20), after adjustment for covariates. Similarly, inverse association was observed for the birth weight (ß: -0.10; 95% CI: -0.20, -0.00), even though it was no longer associated after adjustment for plasma ferritin. In the Article 3 (n = 1,525), high prevalence rate of gestational night blindness (11.5%) and maternal anemia (39.4%) were observed. Associated factors with gestational night blindness were the number of people in the household (five or more- PR: 2.06; 95% CI: 1.24, 3.41), smoking during pregnancy (PR: 1.78; 95% CI: 1.15, 2.78), and the completeness of less than six antenatal care visits (PR: 1.61; 95% CI: 1.08, 2.40). Associated factors with maternal anemia were being teenage (< 19 years - PR: 1.18; 95% CI: 1.01, 1.38), gestational malaria (PR: 1.22; 95% CI: 1.01, 1.49), did not use any supplementation during pregnancy (PR: 1.27; 95% CI: 1.01, 1.62), and the number of antenatal care visits (< 6 visits - PR: 1.40; 95% CI: 1.15, 1.70). Conclusion - In a city in the Western Brazilian Amazon, the VA deficiency was associated with the risk for maternal anemia and was inversely associated with maternal serum hemoglobin and the birth weight. The current strategies and interventions targeting antenatal nutrition care must be reviewed in order to reduce the adverse effects for mother-child binomial caused by VA deficiency.

Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia

Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. This is the first report on a molecular genetic diagnosis of choroideremia in Korean individuals. Molecular diagnosis of choroideremia should be widely adopted for proper diagnosis and the development of new treatment modalities including gene therapy.

Night Blindness Induced by Long-term External Bile Drainage / 이화의대지

Vitamin A deficiency can occur as a result of malnutrition, malabsorption, or poor vitamin metabolism due to liver disease and night blindness might develop as the first symptom. Although there have been foreign reports about night blindness due to vitamin A deficiency which was derived from liver cirrhosis, primary biliary cirrhosis, intestinal bypass surgery or bariatric operation, it is hard to find reports about night blindness after percutaneous transhepatic biliary drainage for external bile drainage. We report a case of night blindness derived from fat-soluble vitamin A deficiency developed after long-term (18 months) external bile drainage for benign biliary stricture occurred after left hepatic lobectomy and hepaticojejunostomy due to the Klatskin tumor (IIIb). Her night blindness and low serum retinol level (0.02 mg/L) was dramatically improved after vitamin A supplementation. We recommend lipid-soluble vitamin supplementation on the case of long-term external bile drainage.

A Case of Long Anterior Lens Zonule and Pigment Dispersion Syndrome

PURPOSE: To report a case of long anterior lens zonule and pigment dispersion syndrome. CASE SUMMARY: A 67-year-old female visited our clinic with complaint of visual disturbance in the left eye. She had no history of nyctalopia. Visual acuity was 0.6 in the right eye and 0.4 in the left eye. Intraocular pressure was 12 mm Hg in the right eye and 16 mm Hg in the left eye. Nuclear sclerosis was observed in the left lens. There was no pseudoexfoliative material observed. In the left eye, long anterior zonules with brown pigmented lens striae were spotted irregularly in every direction of the anterior lens. On gonioscopy, the angle was open, and dense, uniform, trabecular meshwork pigmentations were observed at the interior 120 degrees. On fundus examination, cup-to-disc ratio was 0.4 in the right eye, 0.3 in the left eye, and multiple hard exudates were observed in both retinas. Axial length was 22.03 mm in the right eye and 21.84 in the left eye. Anterior chamber depth was 2.71 mm in the right eye and 2.47 mm in the left eye. Defects in the retinal nerve fiber or visual field examination were not observed and pigment dispersion syndrome was diagnosed. The patient showed no significant change at the 9-month follow-up. CONCLUSIONS: We diagnosed atypical pigment dispersion syndrome associated with long anterior zonules and pigmented lens striae. Late onset retinal degeneration should be ruled out with chromosomal analysis if patients show nyctalopia, retinal pigment epithelium atrophy, or family history.

Alterações eletrofisiológicas na doença de Oguchi / Electrophysiological findings in Oguchi disease

Descrever as alterações eletrofuncionais em um caso raríssimo da Doença de Oguchi. Paciente do sexo feminino, italiana de 17 anos de idade se queixava de cegueira noturna. A resposta escotópica de bastonetes, do ERG era não registrável. A resposta escotópica ao estímulo branco forte demonstrava uma diminuição de amplitude da onda B. As respostas ao flicker de 30Hz e ao EOG eram dentro dos limites da normalidade. Era presente o fenômeno de Mizuo-Nakamura. Os exames eletrofuncionais são muito importantes no diagnóstico de certeza da doença de Oguchi. É nítida, no presente caso, a discordância entre EOG e ERG. Considerando a função dos bastonetes, as respostas normais do EOG contrastam com a ausência de respostas dos bastonetes em condições escotópicas no ERG. Mais estudos são necessários para entender o complexo mecanismo eletrofuncional dessa doença e melhor definir a origem dos componentes sensíveis à luz do EOG...

To describe the electrophysiological alterations in a very rare case of Oguchi's disease. A 17-year-old italian girl complaining of night blindness underwent complete ophthalmological exams, including electrophysiological tests. Rod responses were nondetectable in full-field electroretinogram (ERG). The photopic ERG funtions, including the 30 Hz flicker ERG response was normal, while the scotopic b-wave was diminished in amplitude. The electrooculography (EOG) ratios within the normal range were 208% in the right eye and 222% in the left eye. The Mizuo-Nakamura phenomenon was present. The electrophysiological tests are important tools in Oguchi's disease diagnosis. In the present case, it's clear the non correspondance between EOG and ERG. Considering the rod function, the normal EOG ratio contrast with non-detectable rod ERG responses. More studies are necessary to understand the compless electrofuntional mecanism of the disease helping to understand the origin of the light-sensitive component of the EOG...

Retinitis Pigmentosa Complicated by Vitreous Hemorrhage in a Young Patient: A Case Report

PURPOSE: To report a case of a young male patient with retinitis pigmentosa (RP) accompanied by vitritis and neovascularization of the optic disk in both eyes who underwent unilateral vitrectomy for the treatment of vitreous hemorrhage in the right eye. CASE SUMMARY: An 8-year-old boy visited our clinic with a complaint of night blindness. Both eyes showed inflammatory cells in the anterior vitreous and neovascularization of the optic disk confirmed by fluorescein angiography. Extensive vitreous hemorrhage developed in his right eye and he underwent unilateral vitrectomy. His final visual acuity was 0.6 in both eyes. CONCLUSIONS: Vitreous hemorrhage may be related to chronic inflammation in the vitreous and is a very rare RP complication. Vitrectomy can be an effective treatment option for RP complicated by vitreous hemorrhage.

Assessment of retinal degeneration with optical coherence tomography in a dog / 대한수의학회지

To report retinal image of in a 6-year-old male castrated poodle dog with a 2-month history of nyctalopia using optical coherence tomography (OCT). Ocular reflexes were present in both eyes and slit lamp examination showed anterior subscapular cataract in the right eye. There were fundus abnormalities in both eyes similar to retinal degeneration. Scotopic electroretinograms (ERGs) revealed significantly subabnormal amplitudes and prolonged implicit time, whereas photopic ERGs were better maintained, although far from normal. OCT of affected dogs revealed generalized retinal thinning much more than a normal age-matched dog. Therefore, OCT scanning is considered to be a useful method for retinal evaluation in dogs with retinal degeneration.

A Case of Retinal Pigmentary Degeneration in PKAN

PURPOSE: Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation is an extremely rare degenerative disease. The present study reports a case of retinal pigmentary changes in PKAN. CASE SUMMARY: A 6-year-old girl presented with night blindness and developmental delay. Neurologic examination revealed toe gait and dystonia. Ocular examination showed retinal pigmentary change in the entire retina without optic atrophy. Brain magnetic resonance imaging showed iron deposits in the basal ganglia, the so-called "eye of the tiger" sign. Genetic tests confirmed a mutation in the gene encoding pantothenate kinase 2. Electroretinography demonstrated severe loss of rod and cone responses, prominently reduced in the rod response. The patient was diagnosed with PKAN and pharmacologic treatment started. CONCLUSIONS: In the case of systemic neurological abnormalities with pigmentary retinal change, PKAN should be considered as a differential diagnosis.

Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of 14 family members. Based on 3 genes reported previously, PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR. PCR products were purified and directly sequenced.</p><p><b>RESULTS</b>A c.281C>T heterozygous missense mutation was detected in RHO gene in all of the patients. This mutation can cause a change of the protein structure (p.Thr94Ile). The same mutation was not detected in normal individuals from the family and 50 normal controls.</p><p><b>CONCLUSION</b>A c.281C>T mutation in RHO gene is responsible for the onset of ADCSNB in this Chinese family and results in symptoms of night blindness.</p>

Specific Spectral Domain Optical Coherence Tomographic Findings of Oguchi Disease

PURPOSE: To report specific spectral domain OCT findings of Oguchi disease diagnosed with fundoscopic examination and electrophysiological study. CASE SUMMARY: A 14-year-old patient visited our clinic with a complaint of night blindness for ten years. Fundoscopic examination showed a golden-yellow fundus reflex. After three hours of dark adaptation, the fundus color returned to normal (Mizuo-Nakamura phenomenon). In full-field ERG, rod b-wave was not detectable. The a-wave amplitude in maximal combined response increased after three hours of dark adaptation, although the b-wave amplitude was similar to the amplitude before dark adaptation, demonstrating a negative waveform. In the spectral domain OCT images of the perifoveal area, no gap between the retinal pigment epithelium and the inner segment/outer segment (IS/OS) junction was detected before prolonged dark adaptation, and a highly reflective band was shown. However, the gap appeared after three hours of dark adaptation, and two highly reflective bands were detected in the OCT images. CONCLUSIONS: The characteristic OCT finding in addition to the specific fundoscopic finding and full-field ERG results may be useful to diagnose Oguchi disease.

Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil / Lipofuscinose ceróide neuronal juvenil: investigação clínica e molecular em uma família grande no Brasil

OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained. RESULTS: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-year-old male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home. CONCLUSION: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling.

OBJETIVO: Lipofuscinose Ceróide Neuronal Juvenil (JNCL, CLN 3, Doença de Batten) (OMIM # 204200) pertence ao grupo mais comum de doenças neurodegenerativas na infância. É causada por mutações no gene CLN3, com padrão de herança recessiva. A deleção de 1,02 kb é a mutação mais comum. Relatamos os dados clínicos e análise molecular de uma família consanguínea numerosa. MÉTODO: Família composta por dois casais consanguíneos e trinta e duas crianças. Foram obtidos dados clínicos de dez pacientes e análises moleculares de 13 participantes. RESULTADOS: Foi detectada deleção de 1,02 kb. O fenótipo mais grave, com comportamento autista, tiques e parkinsonismo foi visto em uma paciente do sexo feminino de 12 anos e o fenótipo mais leve em um paciente do sexo masculino de 14 anos. Nictalopia foi o primeiro sintoma de uma criança falecida. A perda visual de seis pacientes foi observada pela primeira vez na escola e não em casa. CONCLUSÃO: Destaca-se a variação fenotípica intrafamiliar em 10 pacientes. A investigação molecular desta família numerosa tornou possível o diagnóstico, a abordagem correta e aconselhamento genético.

Associação entre deficiência de vitamina A e variáveis socioeconômicas, nutricionais e obstétricas de gestantes / Association between Vitamin A deficiency and socioeconomic, nutritional and obstetric variables

Este estudo investigou a prevalência de cegueira noturna e sua associação com as variáveis socioeconômicas, nutricionais e obstétricas de 92 gestantes atendidas em um posto municipal de saúde da cidade de Diamantina, Alto Vale do Jequitinhonha (MG). Para a coleta de dados, utilizou-se a entrevista preconizada pela OMS (1996) para o diagnóstico da cegueira noturna. Na análise estatística, utilizou-se o teste exato de Fisher e o de teste de Wilcoxon. Os resultados demonstraram uma prevalência maior de cegueira noturna nos distritos de Diamantina (15,38 por cento) e cidades vizinhas (13,04 por cento). Não foi encontrada associação significativa entre cegueira noturna e as variáveis socioeconômicas e obstétricas (p>0,05). No entanto, observou-se um menor consumo de vitamina A pelas gestantes com cegueira noturna (4,4 por cento). Tais achados apontam a necessidade de realizar novas investigações acerca da deficiência de vitamina A, a fim de subsidiar ações de prevenção e combate a esse agravo neste grupo em particular.

This study verified the night blindness prevalence, the first manifestation of this deficiency, and its association with socioeconomic, nutritionals and obstetric variables of 92 pregnant who were assisted on a health municipal center in Diamantina, Vale do Jequitinhonha. Data was collected through a model interview recommended by WHO (1996) to diagnose night blindness. The statistic analysis used Fisher exact test and Wilcoxon test. The results showed a higher prevalence of night blindness at Diamantina districts and neighbor cities (13.04 percent). No significant association was found between night blindness and socioeconomic and obstetric variables (p>0.05). It was observed a low vitamin A levels by pregnant with night blindness (4.4). This found shows the necessity of more investigations on vitamin A deficiency in order to help prevent, diagnose and combat this issue.

Two Female Siblings With Bietti Crystalline Retinopathy Without Corneal Dystrophy

PURPOSE: To report clinical and functional results in two female siblings with Bietti crystalline retinopathy. CASE SUMMARY: Recently, a 48-year-old female with bilateral intraretinal depositions presented with a complaint of decreased visual acuity and night blindness in both eyes. Several tiny glistening yellow intraretinal crystalline depositions were observed. Fluorescein angiography showed a well-demarcated choriocapillaris filling defect and pigment epithelial window defect. Electrophysiologic tests showed decreased amplitude and OCT scans showed fine intraretinal lesions with increased signal intensity. In addition, a 50-year-old female sibling presented with bilateral yellow, intraretinal crystalline depositions. A choriocapillaris filling defect and pigment epithelial window defect in a fluorescein angiography was observed. Electrophysiologic tests showed severely decreased amplitude. CONCLUSIONS: Two female siblings with Bietti crystalline retinopathy are reported.

case series study of leber's congenital amaurosis: Clinical description and ERG findings

To evaluate the incidence of Leber's Congenital Amaurosis [LCA] in low vision children referred to electrophysiology ward of Farabi Eye Hospital, and review the clinical features of disease and Electroretiongraphy [ERG] test values to confirm the diagnosis and severity of the disease in Iran. Prospective observational case series. Two-hundred and fifteen cases of low vision infants and young children were referred to electrophysiology ward of Farabi Eye Hospital during 18 months. Clinical LCA diagnosis was made and ERG tests were done and LCA diagnosis was confirmed. The symptoms, signs and the results of eye examination and ERG findings were recorded. The mean age of the patients was 27.43 [range, 1-120 months]. Among low vision patients fourteen percent of patients had LCA. Fifty-four percent of the patients were female. Nystagmus and low vision were the two most common clinical manifestations of these patients. Hyperopia was the main refractive error [54.80%] and mild abnormalities in fundus examinations were found in 67.70% of cases. In nearly 90% of cases consanguinity was found. ERG was flat or unrecordable in more than 90% of cases, but in less than 10% of cases with recordable curves, severe decrease in amplitude of waves was encountered. ERG confirmed LCA diagnosis in 31 out of 37 patients [positive predictive value of 83.7%]. The incidence of LCA in low vision children is similar to other studies. ERG helped in confirmation of presence or absence of overall retinal dysfunction in the majority 31/37 [83.7%] of LCA patients. It can differentiate these cases from other cases with poor vision in infantile age but genetic testing is recommended

Electroretinographic assessment and diagnostic reappraisal of children with visual dysfunction: a prospective study.

PURPOSE: To assess the presence or absence of a retinal cause of visual impairment using electroretinography (ERG) in children with no obvious discernable cause on ocular examination. DESIGN: Prospective observational case series. MATERIALS AND METHODS: A prospective study was carried out involving 120 children with the mean age 4.4+/-3.2 years with visual dysfunction. All children underwent ERG under general anesthesia using a special handheld mini-Ganzfeld (Kurbisfeld) dome. RESULTS: Fifty-two (43.3%) children were male and 68 (56.7%) were female. The clinical diagnosis was as follows: Leber's congenital amaurosis (LCA) (n=47), achromatopsia (n=25), congenital stationary night blindness (CSNB) (n=9) and others (unclassifiable, n=39). The visual acuity ranged from perception of light (PL) to PL with projection in children with LCA. In the rest (n=73), some sort of visually guided behavior was discernable. Following ERG, a diagnostic reappraisal resulted as follows: LCA (n=49), achromatopsia (n=28), CSNB (n=4), cone-rod dystrophy (n=22), rod-cone degeneration (n=7), normal (n=8) and others (unclassifiable, n=2). Except for the two unclassifiable cases, ERG was successful in the diagnosis or exclusion of retinal dysfunction in the rest. By Pearson Chi-square test, there was a statistically significant association between the clinical and ERG diagnosis (P < 0.001). CONCLUSION: LCA was the commonest cause of visual dysfunction in our series. A statistically significant correlation between clinical and electrophysiological diagnosis was seen. ERG helped in firmly establishing the presence or absence of global retinal dysfunction in the majority (118/120) of pediatric patients with visual dysfunction.

A investigação da cegueira noturna no grupo materno-infantil: uma revisão histórica / The investigation of night blindness in the mother-child group: a historical review

Objetivou-se neste estudo apresentar uma revisão histórica sobre a cegueira noturna, um indicador funcional da deficiência de vitamina A. Realizou-se uma revisão da literatura científica publicada no período de 1929 a 2005, nas bases de dados Medline, Lilacs, SciELO e dos comitês nacionais e internacionais de saúde e de micronutrientes, utilizando-se os termos night blindness, xerophthalmia, pregnancy, post partum women, newborn, children, vitamin A deficiency, micronutrient, deficiência de vitamina A, micronutriente, cegueira noturna, gestação, xeroftalmia. O reconhecimento da importância do indicador funcional da deficiência de vitamina A foi consagrado em 1996 pela Organização Mundial de Saúde, a partir da recomendação de uma entrevista padronizada para investigação da cegueira noturna. O método se caracteriza por apresentar facilidades operacionais, ser de baixo custo, além de permitir a sua aplicação tanto para o monitoramento do estado nutricional de pessoas e comunidades, quanto para a avaliação da eficácia de programas de intervenção. Entre gestantes e nutrizes, estudos recentes sugerem a utilidade deste indicador no diagnóstico dos casos de deficiência de vitamina A ainda no estágio subclínico da deficiência, sendo grande a sua concordância com indicadores bioquímicos. Ao longo dos anos, verifica-se também o reconhecimento deste indicador como um instrumento importante para a predição do risco de morbimortalidade no grupo materno-infantil.

The aim of this study was to provide a historical review of night blindness, a functional indicator of vitamin A deficiency. The scientific literature published in the period from 1929 to 2005 was reviewed, using Medline, Lilacs, SciELO, National and International Health and Micronutrients Comities databases. The key words used were: night blindness, xerophthalmia, pregnancy, postpartum women, newborn, children, vitamin A deficiency, micronutrient. The importance of the functional indicator of vitamin A deficiency has been consecrated in 1996 by the World Health Organization through the recommendation of a standardized interview to investigate cases of night blindness. The method is characterized by methodological easiness, low cost and it allows the monitoring of the nutritional status of people and communities, and evaluation of the efficacy of interventions. Recent studies suggest that this indicator is also useful for diagnosing subclinical vitamin A deficiency among pregnant women and postpartum women, since the agreement with biochemical indicators is expressive. Along the years, this indicator has also been recognized as an important instrument to predict the risk of morbidity and mortality in the mother-child dyad.