A Case of Glaucoma in Hereditary Spherocytosis.
Chen Haiying, Symons Robert C A, Mayson Eleni, Skalicky Simon E
AI Summary
This case suggests hereditary spherocytosis may be a glaucoma risk factor, possibly by impairing optic nerve blood supply, warranting further investigation into this potential association.
Abstract
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.
MeSH Terms
Shields Classification
Key Concepts5
A 66-year-old man with normal pressure glaucoma and hereditary spherocytosis was diagnosed simultaneously with both conditions.
The 66-year-old man with normal pressure glaucoma and hereditary spherocytosis presented with a branch retinal vein occlusion, and normal tension glaucoma that was incidentally detected.
The maternal grandmother of the 66-year-old man also had hereditary spherocytosis and glaucoma.
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.
Related Articles5
MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.
Cohort StudyBiallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma.
Observational StudyThe LOXL1 gene variations are not associated with primary open-angle and primary angle-closure glaucomas.
Case-Control StudyKearns-Sayre syndrome and primary open-angle glaucoma.
Case ReportPrimary open-angle glaucoma.
ReviewIs this article assigned to the wrong chapter(s)? Let us know.