The author have experienced a case of aniridia in a 44 year-old man. Aniridia is an uncommon congenital anomaly, is almost bilateral cmd appears as a dominant characteristic. Coincident anomalies are the rule, affectory especially the cornea and the lens. Chronic glaucoma is due to anatomical defect, with a reduction in the available filtration angle. It is noticeable, that very few patients with aniridia have retained good vision through a reasonably long life.
Adult ; Aniridia* ; Cornea ; Filtration ; Glaucoma ; Humans

We have experienced a case of congenital deformity of the eye, which was unilateral, combined with cleft lip and palate. Oblique facial cleft is the most uncomnon facial cleft. The cleft follows an oblique line extending from the upper lip, lateral to the philtrum and nostril, toward the eye. The coloboma of the lower lid and enlarged bifid of the cornea were formed by part of a deep groove dong the lateral aspect of the nose, together with the presence of the cleft lip and palate. In the present case, the malformation may have resulted from abnormalities in the germ cells themselves or from amniotic abnormal pressure, or from the formation of amniotic bands or adhesions.
Amniotic Band Syndrome ; Cleft Lip* ; Coloboma ; Congenital Abnormalities* ; Cornea ; Germ Cells ; Infant, Newborn ; Lip ; Nose ; Palate*

Secondary involvement of the eye and orbit occurs in about two to four percent of the patients with generalized lymphomatosis and/or other forms of lymphomatous tumors. Of the extranodal primary lesions which are more rare manifestation of the malignant lymphoma, only one percent occur in the eye and orbit. The malignant lymphoma of the orbit is consequently a relatively uncommon condition. The authors experienced a case of the malignantly mphoma of the orbital margin and treated by local radiation therapy with Co60, and the lesions regressed rapidly and completely disappeared. There has been no sign of recurrence at the orbital region, but we found that the malignant lymphomatous lesions involved in the pancreas and omentum by the surgical laparotomy. The patient died of poor course of the disease about 20 days after discharge.
Humans ; Laparotomy ; Lymphoma* ; Omentum ; Orbit* ; Pancreas ; Recurrence

BACKGROUND: The aim of this study was to investigate the prevalence, clinical and laboratory findings of hereditary hemolytic anemia (HHA) in Korea from 1997 to 2006 and to develop the appropriate diagnostic approach for HHA. METHODS: By the use of questionnaires, information on the clinical and laboratory findings ofHHA diagnosed from 1997 to 2006 in Korea was collected and analyzed retrospectively. A total of 431 cases were enrolled in this study from 46 departments of 35 hospitals. RESULTS: The overall frequency of HHA did not change through the 10-year period for pediatrics but did show an increasing tendency for internal medicine. The overall male to female sex ratio did not show sex predominance (1.17:1), but a significant male predominance with a ratio of 1.49:1 was seen for pediatrics while a significant female predominance with a ratio of 1:1.97 was seen forinternal medicine. Of the total cases, 74.2% (282/431) were diagnosed before the age of 15 years. The etiologies of HHA were classified as red cell membrane defects, hemoglobinopathies, red cell enzyme deficiencies and unknown causes. There were 382 cases (88.6%) of red cell membrane defects with 376 cases (87.2%) of hereditary spherocytosis and 6 cases (1.4%) of hereditary elliptocytosis, 20 cases (4.6%) of hemoglobinopathies with 18 cases (4.2%) of beta-thalassemia, a case (0.2%) of alpha-thalassemia and a case (0.2%) of Hemoglobin Madrid, 7 cases (1.6%) of red cell enzyme deficiencies with 5 cases (1.2%) of glucose-6- phosphate dehydrogenase (G-6-PD) deficiency, a case (0.2%) of pyruvate kinase (PK) deficiency and a case (0.2%) of enolase deficiency, and 22 cases (5.1%) of unknown causes. The most common chief complaint in pediatric patients was pallor and that in adult patients was jaundice. In the red cell membrane defect group of patients, the level of hemoglobin was significantly higher than in adult patients. The mean corpuscular volume, mean corpuscular hemoglobin, corrected reticulocyte count, total and indirect bilirubin level and lactate dehydrogenase levels in the hemoglobinopathy group of patients were significantly lower than the values in the red cell membrane defect group of patients. The mean concentration of G-6-PD was 0.8+/-0.7U/1012RBC in the G-6-PD deficient patients, PK was 1.7U/1010 RBC in the PK deficient patient, and the level of enolase was 0.04U/g of Hb in the enolase deficient patient. CONCLUSION: The most prevalent cause of HHA in Korea during 1997 to 2006 was hereditary spherocytosis, but HHA by other causes such as hemoglobinopathy and red cell enzyme deficiency gradually increased with the development of molecular diagnostic methods and increasing general interest. However, the etiologies of HHA need to be pursued further in 5.1% of the patients. An systematic standard diagnostic approach is needed in a nationwide prospective study for correct diagnoses and appropriate management of HHA.
Adult ; alpha-Thalassemia ; Anemia, Hemolytic, Congenital* ; beta-Thalassemia ; Bilirubin ; Cell Membrane ; Diagnosis ; Elliptocytosis, Hereditary ; Erythrocyte Indices ; Female ; Hemoglobinopathies ; Humans ; Internal Medicine ; Jaundice ; Korea* ; L-Lactate Dehydrogenase ; Male ; Oxidoreductases ; Pallor ; Pathology, Molecular ; Pediatrics ; Phosphopyruvate Hydratase ; Prevalence ; Pyruvate Kinase ; Reticulocyte Count ; Retrospective Studies* ; Sex Ratio ; Surveys and Questionnaires