RÉSUMÉ
Os autores tecem comentários a respeito da atrofia girata da coróide e retina, com ênfase para os distúrbios genéticos e metabólicos como a hiperornitinemia. Apresentam um caso bastante avançado e discutem as possibilidades terapêuticas com doses elevadas de piridoxina
Sujet(s)
Humains , Mâle , Adulte , Choroïdérémie/diagnostic , Choroïde/anatomopathologie , Diagnostic différentiel , Atrophie gyrée/génétique , Pyridoxine/administration et posologie , Rétine/anatomopathologie , Atrophie gyrée/traitement médicamenteux , Atrophie gyrée/métabolismeRÉSUMÉ
This report describes the clinical and morphological features of X-linked recessive chorioretinal disorder called Choroideremia in five generations of one family. The pedigree shows the typical X-linked transmission. The fundus changes of carrier state, [salt and pepper] appearance of the ocular fundus, in one female twin of 25 and midperipheral pigmentation in the other, the typical appearance of Choroideremia in two affected males of 53 and 54, and a beginning stage in a 4-year-old boy were found. This study demonstrates that due to the uncharacteristic features in the early stages of the disease in the afflicted males and the carrier state fundus changes that might not appear clinically important, the examination of family members is essential for accurate diagnosis and proper medical management of choroideremia