Purpose: To report a case of glaucoma and the inherited red cell membranopathy hereditary spherocytosis diagnosed simultaneously in 2 individuals in a family.
Patient: A 66-year-old man with normal pressure glaucoma and hereditary spherocytosis.
Results: This patient presented with a branch retinal vein occlusion, and normal tension glaucoma that was incidentally detected. Further history revealed that the patient's maternal grandmother also had hereditary spherocytosis and glaucoma.
Conclusions: We hypothesize that glaucoma and hereditary spherocytosis may be associated. Hereditary spherocytosis may be a potential risk factor for glaucoma by causing impaired blood supply to the optic nerve.
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http://dx.doi.org/10.1097/IJG.0000000000001075 | DOI Listing |
Langmuir
January 2025
Department of Chemical Engineering, University of Michigan, Ann Arbor, Michigan 48109, United States.
In this work, we show how shape matters for the ordering of red blood cells (RBCs) at a water-air interface for both artificially rigidified and sphered cells as a model system for hereditary spherocytosis. We report enhanced long-range order for spherical RBCs over disk-shaped RBCs arising from the increased local ordering of spheres relative to disks. We show that rigidity has a greater effect on the radial distribution of spherical vs disk-shaped RBCs by slightly increasing the average distance between cells.
View Article and Find Full Text PDFTurk J Haematol
January 2025
Marmara University Faculty of Medicine, Department of Medical Genetics, İstanbul, Türkiye.
Objective: This study aims to determine the genotypic characteristics of Hereditary Spherocytosis (HS) patients in Turkiye and to examine the correlation between genotype and phenotype.
Materials And Methods: Herein we had 18 patients who were admitted to pediatric hematology outpatient clinic with hemolytic anemia, jaundice, cholelithiasis, and splenomegaly. According to the Eber's classification, the patients' clinical presentations were categorized as mild, moderate, and severe.
J Paediatr Child Health
December 2024
Department of Physiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
Aim: To evaluate endocrinological changes and insulin secretion in patients with hereditary spherocytosis (HS).
Methods: The study included 30 patients with HS and 30 healthy control groups who were of similar age and gender. Routine tests, including hemogram, biochemical and hormonal tests were conducted on both patients with HS and the control group.
Am J Hematol
February 2025
Department of Hematology, Odense University Hospital, Odense, Denmark.
Chronic hemolysis potentially elevates the risk of gallstones in several types of congenital red blood cell (RBC) disorders. However, the magnitude of the risk is unknown. We investigate the risk of gallstone disease in congenital RBC disorder patients, compared with general population comparators.
View Article and Find Full Text PDFFront Pediatr
November 2024
Department of Pediatric Surgery, Anhui Provincial Children's Hospital, Hefei, China.
Background: Gallstones are among the most common complications of hereditary spherocytosis (HS). In previous treatments, gallbladder-preserving cholelithotomy (GPC) has remained a subject of significant debate due primarily to potential risks of stone recurrence. However, past studies have often overlooked the impact of specific disease conditions on GPC.
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