ABSTRACT
Abstract Hemoglobin C is the second most frequent Hb variant in Brazil and the world. Hemoglobin C trait is described as a benign and asymptomatic condition. There is little information in the literature about the association of retinal vascular disease and the presence of hemoglobin AC, being this information restricted to a few case reports. This case report describes a 26-year-old female patient with hemoglobin C trait. She presents areas of non-perfusion and arteriovenous shunts in the retinal temporal periphery of the left eye, like changes in Goldberg's stage II of proliferative sickle retinopathy. After three years of follow-up, the patient exhibits the same the alteration in right eye as well.
Resumo A hemoglobina C é a segunda variante de hemoglobina mais comum no Brasil e no mundo. O traço C é descrito como uma condição benigna e assintomática. Há pouca informação na literatura sobre a associação de doença vascular retiniana e a presença de hemoglobina AC, sendo esta informação restrita a alguns poucos relatos de casos. Este relato de caso descreve uma paciente do gênero feminino de 26 anos de idade com traço C. Ela apresenta áreas de não perfusão e shunts artério-venosos na periferia temporal da retina do olho esquerdo, similar ao estágio II de Goldberg de retinopatia proliferativa falciforme. Após três anos de acompanhamento, a paciente apresentou a mesma alteração também em olho direito.
Subject(s)
Humans , Female , Adult , Retinal Diseases/etiology , Hemoglobin C Disease/complications , Retinal Diseases/blood , Hemoglobin C Disease/blood , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/bloodABSTRACT
A rare case of hyperlipropoteinemia in a 35-day-old infant who presented not only high blood levels of cholesterol and triglycerides but also an ocular manifestation described as lipemia retinalis. The fundoscopic abnormality cleared as the levels of chilomicrons in plasma dropped. Lipemia retinalis is an important and reliable parameter of high levels of chilomicrons and triglycerides and should be considered as a significant clue while diagnosing.
Subject(s)
Hyperlipoproteinemias/diagnosis , Retinal Diseases/diagnosis , Cholesterol/blood , Consanguinity , Female , Gastrointestinal Hemorrhage/diagnosis , Humans , Hyperlipoproteinemias/blood , Hyperlipoproteinemias/diet therapy , Infant, Newborn , Retinal Diseases/blood , Retinal Diseases/diet therapy , Triglycerides/blood , Xanthomatosis/diagnosisABSTRACT
A rare case of hyperlipropoteinemia in a 35-day-old infant who presented not only high blood levels of cholesterol and triglycerides but also an ocular manifestation described as lipemia retinalis. The fundoscopic abnormality cleared as the levels of chilomicrons in plasma dropped. Lipemia retinalis is an important and reliable parameter of high levels of chilomicrons and triglycerides and should be considered as a significant clue while diagnosing.
Caso raro de hiperlipoproteinemia em recém-nascido com 35 dias de idade. Identificados altos níveis de colesterol e triglicérides associados a manifestãção ocular descrita como lipemia retinalis. As alterações oculares mostraram melhora uma vez que os níveis séricos foram controlados. Lipemia retinalis é parâmetro confiável e importante a ser considerado como suspeita de alterações de colesterol e triglicérides em crianças e em adultos.
Subject(s)
Female , Humans , Infant, Newborn , Hyperlipoproteinemias/diagnosis , Retinal Diseases/diagnosis , Consanguinity , Cholesterol/blood , Gastrointestinal Hemorrhage/diagnosis , Hyperlipoproteinemias/blood , Hyperlipoproteinemias/diet therapy , Retinal Diseases/blood , Retinal Diseases/diet therapy , Triglycerides/blood , Xanthomatosis/diagnosisABSTRACT
Children with homozygous sickle cell (SS) disease and with sickle cell-haemoglobin C (SC) disease, aged 6 1/2 to 8 1/2 years, were examined by fluorescein angiography/angioscopy to determine the presence of retinal nonperfusion. The haematological and clinical features of children with and without nonperfusion were compared. Retinal vessel closure was significantly correlated with low total haemoglobin, and high fetal haemoglobin, reticulocyte, and irreversibly sickled cell counts in SS disease, and with high reticulocyte count in SC disease. No relationships were apparent between vessel closure and other haematological indices or clinical events in either genotype.
Subject(s)
Anemia, Sickle Cell/diagnosis , Retinal Diseases/diagnosis , Anemia, Sickle Cell/blood , Anemia, Sickle Cell/complications , Child , Female , Hemoglobin SC Disease/blood , Hemoglobin SC Disease/complications , Humans , Male , Prognosis , Retinal Diseases/blood , Retinal Diseases/etiology , Sex FactorsABSTRACT
Children with homozygous sickle cell (SS) disease and with sickle cell-haemoglobin C (SC) disease, aged 6 1/2 to 8 1/2 years, were examined by fluorescein angiography/angioscopy to determine the presence of retinal nonperfusion. The haematological and clinical features of children with and without nonperfusion were compared. Retinal vessel closure was significantly correlated with low total haemoglobin, and high fetal haemoglobin, reticulocyte, and irreversibly sickled cell counts in SS disease, and with high reticulocyte count in SC disease. No relationships were apparent between vessel closure and other haematologial indices or clinical events in either genotype (AU)
Subject(s)
Humans , Child , Male , Female , Anemia, Sickle Cell/diagnosis , Retinal Diseases/diagnosis , Anemia, Sickle Cell/blood , Anemia, Sickle Cell/complications , Hemoglobin SC Disease/blood , Hemoglobin SC Disease/complications , Prognosis , Retinal Diseases/blood , Retinal Diseases/etiology , Sex FactorsABSTRACT
In a selected sample of patients with sickle cell-haemoglobin C (SC) disease, proliferative retinopathy (PSR) occurred in 90/243 (37 percent) patients, developed most frequently between the ages of 20 and 30 years, and affected 68 percent patients aged 45 years or over. Comparison of haematological indices in patients with and without PSR, after age-related effects were allowed for, indicated significant relationships with high mean cell volume in males and with low fetal haemoglobin in both sexes. A highly significant relationship with total haemoglobin level in males (as previously reported in SS disease) was shown in SC disease to be entirely secondary to a strong age-related trend in haemoglobin level (AU)
Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Male , Female , Anemia, Sickle Cell/complications , Hemoglobin C Disease/complications , Retinal Diseases/etiology , Sickle Cell Trait/complications , Age Factors , Erythrocyte Indices , Hemoglobin C Disease/blood , Hemoglobins/analysis , Retinal Diseases/blood , Sickle Cell Trait/bloodABSTRACT
Haematological indices were investigated in 261 patients with homozygous sickle cell disease, 29 of whom had developed proliferative sickle retinopathy (PSR). After allowing for age-related effects, male patients with high Hb (>9 g/dl) and low HbF (<5 ) percent levels appeared to constitute a high risk group for PSR. This relationaship was not evident in females, PSR being observed in patients with lower Hb and higher HbF levels than in the male group. PSR occurred in 14 percent of patients aged 40 years or over in this sample (AU)