Gyrate atrophy of the choroid and retina

In the current study, we present a case of gyrate atrophy whose serum levels of ornithine decreased by vitamine B6 therapy and a diet with low protein.

📌 3 Key Takeaways

🎯

Objective & Hypothesis:Gyrate atrophy of the choroid and retina is an autosomal recessive chorioretinal dystrophy associated with separated chorio- retinal atrophy areas in midperiphery retina and slowly progression.

📊

Key Findings & Data:Gyrate atrophy causes hyperornithinemia secondary to the deficiency of ornithine aminotransferase activity.

💡

Conclusion & Impact:In the current study, we present a case of gyrate atrophy whose serum levels of ornithine decreased by vitamine B6 therapy and a diet with low protein.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Gyrate atrophy of the choroid and retina is an autosomal recessive chorioretinal dystrophy associated with separated chorio- retinal atrophy areas in midperiphery retina and slowly progression. Gyrate atrophy causes hyperornithinemia secondary to the deficiency of ornithine aminotransferase activity. Low night vision, high myopia and peripheral visual field limitation are the earliest findings which occur in late childhood. The main aim in the treatment is to reduce plasma ornithine level. In the current study, we present a case of gyrate atrophy whose serum levels of ornithine decreased by vitamine B6 therapy and a diet with low protein.

Özet

Retina ve koroidin gyrate atrofisi otozomal resesif geçişli midperiferal retinada birbirinden ayrışık koryoretinal atrofi alanları ile karakterize yavaş ilerleyici bir koryoretinal distrofidir. Bu distrofi ornitin aminotransferaz eksikliği sonucu hiperor- nitemiye neden olur. Geç çocukluk çağında gece görüşte zorluk, yüksek miyopi ve periferik görme alanı daralması şeklinde semptom verir. Tedavide esas amaç plazma ornitin düzeylerinin düşürülmesidir. Bu yazıda vitamin B6 ve proteinden kısıtlı diyet tedavisi ile serum ornitin düzeyleri düşen gyrate atrofili bir olgu sunulmuştur.

🔖

Cite This Article

İLHAN, N., KESKİN, U., İLHAN, Ö., AYHAN, E. T., AYINTAP, E., DAĞLIOĞLU, M., ÖKSÜZ, H. (2013). Gyrate atrophy of the choroid and retina. Retina-Vitreus, Cilt: 21 - Sayı: 3, 228–230. https://ajindex.com/articles/307675

References (14)

Takki K, Simell O. Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinameia. Br J Ophthal- mol 1974;58:907-16
Weleber RG, Kennaway NG. Gyrate atrophy of the choroid and retina. In: Heckenlively JR, ed. Retinitis pigmentosa. Philadelphia: JB Lippincott 1988:198-220
Kaiser-Kupfer MI, Valle D, Del Valle LA. A specific enzyme defect in gyrate atrophy. Am J Ophthalmol 1978;85:200
O’dwyer PA, Akova YA. Temel göz hastalıkları (2. Baskı). Güneş Tıp Kitabevleri, Ankara 2011;528-9
Yanoff M, Duker JS. Oftalmoloji (2. Baskı). Hayat Tıp Kitapçılık, İstanbul 2007;836-39
Kaiser-Kupfer MI, Caruso RC, et al. Gyrate atrophy of the choroid and retina: long term reduction of ornithine slows retinal degeneration. Arch Ophthalmol 1991;109:1539-48
Valle D, Simell O. The hyperornithinemias. In The metabolic and molecular bases of inherited disease Edited by: Scriver CR, Beaudet AL, Sly WS. New York McGraw-Hill 2001;1875-95
Wang T, Steel G, Milam AH, et al. Correction of ornithine ac- cumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina. Proc Natl Acad Sci USA 2000;97:1224-9
Sarı A, Özdek Ş, Gürelik G, ve ark. Hiperornitemi ile seyreden bir koryoretinal distrofi: Gyrate atrofi. Ret-Vit 2002;10:293-9
Santinelli R, Costagliola C, Tolone C, et al. Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up J Inherit Metab Dis 2004;27:187-96
Vannas-Sulonen K, Sipila I, Vannas A, et al. Gyrate atrophy of the choroid and retina: a five-year follow up of cretaine sup- plementation. Ophthalmology 1985;92:1719-27
Büyüktortop N, Alp MN, Sivri S, et al. Gyrate atrophy of the choroid and retina: a case report. Turk J Pediatr 2011;53:94-6
Elpeleg ON, Korman SH. Sustained oral lysine supplemen- tation in ornithine d-aminotransferase deficiency. J Inherit Metab Dis 2001;24:423-4
Hasayaka S, Saito T, Nakajima H, et al. Clinical trials of vita- min B6 and proline supplementation for gyrate atrophy of the choroid and retina. Br J Ophthalmol 1985;69:283-90.