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Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report
- Source :
- Journal of Medical Case Reports, Journal of Medical Case Reports, Vol 1, Iss 1, p 27 (2007)
- Publisher :
- Springer Nature
-
Abstract
- Background Gyrate atrophy of the retina and choroid is a rare autosomal recessive inherited disease, characterized by progressive chorioretinal atrophy that results in progressive deterioration of peripheral and night vision and leading to blindness. Case presentation This report presents a case of a 28-year-old man consulting for a progressive fall of visual acuity with hemeralopia. Eye fundoscopy showed regions of confluent rounded chorioretinal atrophy. The visual field and retinal angiography were altered. A high level of plasma ornithine (629 nmol/mL) was detected and a diagnosis of gyrate atrophy of the retina and choroid was made. The patient was treated with high dose Pyridoxine supplement (300 mg/d for 6 months) and the ornithine level of his serum was successfully reduced. Conclusion The exact mechanism of chorioretinal atrophy in hyper-ornithinemia is not known and a small percentage of the affected people respond to Vitamin B6 supplementation.
- Subjects :
- Pathology
medicine.medical_specialty
Visual acuity
genetic structures
lcsh:Medicine
Case Report
chemistry.chemical_compound
Night vision
Ophthalmology
Medicine
Hemeralopia
Ornithinemia
Medicine(all)
Retina
business.industry
lcsh:R
General Medicine
Ornithine
medicine.disease
Pyridoxine
eye diseases
medicine.anatomical_structure
chemistry
Choroid
sense organs
medicine.symptom
business
medicine.drug
Subjects
Details
- Language :
- English
- ISSN :
- 17521947
- Volume :
- 1
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of Medical Case Reports
- Accession number :
- edsair.doi.dedup.....1bfbba5ec7137812ae0fe962858da14e
- Full Text :
- https://doi.org/10.1186/1752-1947-1-27