Gyrate Atrophy in a 5-year-old patient; confirmed pathogenic variants in the OAT gene, double heterozygous; nyctalopia; ERG with rod dysfunction. BCVA: 20/25 RE; 20/25 LE.
Gyrate Atrophy in a 5-year-old patient; confirmed pathogenic variants in the OAT gene, double heterozygous; nyctalopia; ERG with rod dysfunction. BCVA: 20/25 RE; 20/25 LE.
Note the symmetry of the chorioretinal lesions in both eyes.
Autofluorescence
Note the reduced autofluorescence, which correlates with the chorioretinal atrophy.
Infrared
RNFL – Thickness Image
OCT (B-Scan) longitudinal
Multiple hyporeflective spaces in the inner nuclear layer suggesting schisis in both eyes.
Colour retinography
The posterior pole appears normal but the mid- and far-periphery of the retina shows well-demarcated scalloped areas of chorioretinal atrophy with hyperpigmented edges. Previously circular atrophic lesions have merged to form a large confluent area of atrophy with islands of preserved nasal retina.
