case_images: PMC11022026_01
case_images: Infrared reflectance imaging (IR) shows sharply defined, scalloped retina pigment epithelium and choroidal atrophy areas in the mid-peripheral zone (A, B, C, D).
case_images: jovr-19-118-g001.jpg
case_images: PMC11022026_01_jovr-19-118-g001.jpg
case_images: F1
case_images: Fundus examination of both eyes revealed sharply demarcated areas of the choroidal and retinal atrophy in gyrate shape involving the mid periphery, however, the macula was not affected [Figure 1].
case_images: Family pedigree and partial sequence of OAT gene (genotypes of mother and father have been detected as heterozygotes in c.425-1; however, the proband's nucleotide sequencing has shown the homozygous nucleotide variation in this position). The site of mutation is shown by the arrow.
case_images: jovr-19-118-g002.jpg
case_images: PMC11022026_01_jovr-19-118-g002.jpg
case_images: F2
case_images: Also, the patient's parents were investigated and both were heterozygous for the mentioned mutation [Figure 2].