Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report

Alireza Javadzadeh,Davood Gharabaghi

doi:10.1186/1752-1947-1-27

Alireza Javadzadeh, Davood Gharabaghi

Open Access

https://doi.org/10.1186/1752-1947-1-27

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Abstract

BackgroundGyrate 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 presentationThis 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.ConclusionThe exact mechanism of chorioretinal atrophy in hyper-ornithinemia is not known and a small percentage of the affected people respond to Vitamin B6 supplementation.

Highlights

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
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
Gyrate atrophy (GA) of the Choroid and Retina was first described by Fuchs in 1896.[1]. Human hereditary deficiency of ornithine aminotransferase (OAT) activity is transmitted as an autosomal recessive trait,[2] and results in 10 to 20-fold increased level of plasma ornithine and is shown to be associated with GA.[3]

Summary

Background

Gyrate atrophy (GA) of the Choroid and Retina was first described by Fuchs in 1896.[1] Human hereditary deficiency of ornithine aminotransferase (OAT) activity is transmitted as an autosomal recessive trait,[2] and results in 10 to 20-fold increased level of plasma ornithine and is shown to be associated with GA.[3] The initial complaint of decreasing visual acuity and night vision is followed by the appearance of sharply demarcated, circular areas of chorioretinal atrophy with hyperpigmented margins in the midperiphery of the fundus. This dietary supplementation successfully reduced his serum ornithine level by more than 50% to 293 nmol/ mL

Discussion

Fuchs E

Findings

Mudd SH