Pearson Syndrome - Peripheral Pigmentary Retinopathy

This 9 year old girl has Pearson Syndrome, a mitochondrial cytopathy that can cause sideroblastic anemia, metabolic acidosis, diabetes mellitus and many ocular signs. She had ptosis, amblyopia secondary to her ptosis, and a pigmentary retinopathy as shown in this fundus photograph. The macula shows coarse granular pigment and the peripheral retina has similar pigmentary changes.