Fig. 2

Infrared reflectance and OCT images from two unrelated study subjects with gyrate atrophy. Images from the right eye of case 13 (at age 23 years; A) and from the left eye of case (at 22 years; B) are shown. Case 13 was diagnosed in infancy following an initial presentation with hyperammonaemia, followed a strict dietary protein restriction from time of diagnosis and had what can be described as an unusually mild phenotype (visual acuity 0.16 LogMAR right and 0.3 LogMAR left). Case 2 was 9 years of age at time of diagnosis, was non-compliant with the recommended diet and went on to develop ophthalmic sequelae including cataract and cystoid macular oedema formation (visual acuity 0.68 LogMAR right and 0.54 LogMAR left). The relevant genetic diagnoses are shown in Table 4