Wydanie 4/2015
str. 28

Zwyrodnienie girlandowate siatkówki i naczyniówki – aktualny stan wiedzy

Gyrate Atrophy of Choroid and Retina – Current Knowledge

Beata Kocyła-Karczmarewicz, Wojciech Hautz, Joanna Gołębiewska

Klinika Okulistyki, Instytut „Pomnik Centrum Zdrowia Dziecka” w Warszawie
Kierownik: dr n. med. Wojciech Hautz


Summary: Gyrate atrophy is an uncommon, genetic metabolic disease leading to blindness. Authors have described the current knowledge regarding this disease.
Gyrate atrophy is characterized by markedly elevated levels of ornithine in plasma and in other body fluids. It results from the deficiency of the enzyme ornithine – aminotransferase.
Reduction of plasma ornithine level following arginine-restricted diet leads to slowing the progression of loosing retinal function in patients with gyrate atrophy. Recent clinical studies show that both proline and 5-fluoromethylornithine (5-FMOrn), a specific and irreversible ornithine – aminotransferase inhibitor, prevent the ornithine cytotoxicity.
New options of gyrate atrophy treatment are: human pluripotent stem cells and developments in gene modification method.

Słowa kluczowe: atrofia Gyrata, zwyrodnienie girlandowate siatkówki i naczyniówki, HOGA, niedobór aminotransferazy ornitynowej, deficyt aminotransferazy ornitynowej (OAT).

Keywords: Gyrate atrophy, hyperornithinemia with gyrate atrophy of choroid and retina, HOGA, ornithine aminotransferase deficiency (OAT).


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