PURPOSE A prior report showed ornithine cytotoxicity in ornithine-delta-aminotransferase (OAT)-deficient human retinal pigment epithelial (RPE) cells in an in vitro model of gyrate atrophy of the choroid and retina. This study was intended to clarify the mechanism of ornithine cytotoxicity and to determine the responsible amino acid transporters. METHODS The mRNA expression of amino acid tran...

BACKGROUND Ornithine aminotransferase (OAT) is a 45 kDa pyridoxal-5'-phosphate (PLP)-dependent enzyme that catalyzes the conversion of L-ornithine and 2-oxoglutarate to glutamate-delta-semialdehyde and glutamic acid, respectively. In humans, loss of OAT function causes an accumulation of ornithine that results in gyrate atrophy of the choroid and retina, a disease that progressively leads to bl...

(1) HISTORICAL.-In the fully-developed state, choroideremia presents a characteristic and unmistakable picture of which Fig. 1 and Colour Plate 1(a and b) may be taken as examples. The almost total lack of choroidal vessels strongly suggests a developmental anomaly. In fact most of the early writers on, the subject, such as Mauthner (1872) and Koenig (1874), stressed the likeness to choroidal c...

PURPOSE To describe the use of 4 mg intravitreal triamcinolone acetonide (IVTA) for gyrate atrophy-related macular edema (ME) and to report anatomic and functional outcomes, during a nine-month period. CASE REPORT A 27-year-old female complained of decreased vision since diagnosis of gyrate athrophy (GA), six years before admission. At presentation visual acuity was 20/100 in OD and 20/80 in ...

(1) HISTORICAL.-In the fully-developed state, choroideremia presents a characteristic and unmistakable picture of which Fig. 1 and Colour Plate 1(a and b) may be taken as examples. The almost total lack of choroidal vessels strongly suggests a developmental anomaly. In fact most of the early writers on, the subject, such as Mauthner (1872) and Koenig (1874), stressed the likeness to choroidal c...

Mlany descriptions of the primary chorio-retinal degenerations have been reported (Sosbry, Franceschetti, Joseph, and Davey, 1952; Waardenburg, I 959; Waardenburg, Franceschetti, and Klein, i96i, I963; Franceschetti, FranSois, and Babel, I963). Earlier diagnostic methods of distinguishing these disorders were limited to genetic investigation, general examination, objective ocular examination, f...