Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl

Wenxue Guan,Xiaoyan Peng,Ge Wang,Feng Hu

doi:10.1186/s12886-021-01862-1

Wenxue Guan, Xiaoyan Peng + Show 2 more

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https://doi.org/10.1186/s12886-021-01862-1

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Abstract

BackgroundTo report a case of genetically confirmed gyrate atrophy (GA) of choroid and retina, who showed partial regression of foveoschisis following vitamin B6 supplementary therapy.Case presentationA 6-year-old Chinese girl complained about night blindness and progressive decreased vision in both eyes. Her best corrected visual acuity (BCVA) was 20/63 OD and 20/100 OS. Fundus examination showed bilateral multiple, sharply demarcated, scallop-shaped chorioretinal atrophy areas in the midperipheral and peripheral of the fundus. Spectral domain optical coherence tomography (SD-OCT) showed increased central macular thickness (CMT) with multiple intraretinal cystic spaces in the both eyes. There was no leakage or staining in the macular area in late phase of fluorescein angiography (FA). Blood tests confirmed hyperornithinemia and genetic analysis revealed two heterozygous mutations on ornithine aminotransferase (OAT) gene. Based on clinical presentation and genetic test, the patient was diagnosed as GA of the choroid and retina and further treated with vitamin B6 supplementary for three weeks. Her serum ornithine levels did not change but CMT on SD-OCT declined with partial regression of intraretinal cystic spaces. Then, the patient discontinued the drug because of severe muscle pain, and foveoschisis increased to initial level a month later.ConclusionsFoveoschisis is a rare complication of GA. Vitamin B6 supplementation may alleviate foveoschisis, but its effort for reducing serum ornithine level might be limited. Potential drug adverse effects should be noted in pediatric patients.

Highlights

BackgroundGyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease (OMIM: 258,870)
To report a case of genetically confirmed gyrate atrophy (GA) of choroid and retina, who showed partial regression of foveoschisis following vitamin B6 supplementary therapy.Case presentation: A 6-year-old Chinese girl complained about night blindness and progressive decreased vision in both eyes
Foveoschisis is a rare complication of GA

Summary

Background

Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease (OMIM: 258,870). Reducing plasma ornithine levels through low-protein or arginine-restricted diet and vitamin B6 supplementation form the basis of GA therapy. Multiple studies have reported that low-protein or arginine-restricted diet may delay the progression of chorioretinal atrophy and visual loss, but most patients fail to follow through [8]. We report a case of genetically confirmed GA who showed partial regression of foveoschisis following vitamin B6 supplementary therapy. Spectral domain optical coherence tomography (SDOCT) showed increased central macular thickness (CMT) in both eyes (CMT of 645 μm and 648 μm in the right and left eye, respectively), with multiple intraretinal cystic spaces (Fig. 2a, b). SD-OCT scans showed reduction of CMT with partial regression of intraretinal cystic spaces (CMT of 554 μm and 572 μm in the right and left eyes, respectively) (Fig. 2c, d). The BCVA in both eyes remained stable during the five months

Discussion

Conclusions