Isolated Macular Cherry-Red Spot Without Systemic Disease

Abstract

Introduction: Macular cherry-red spot can be a sign of different disorders. It is mostly a sign of retinal artery occlusion in adults, and sphingolipid storage diseases in infants. In the presenting case, parafoveal ganglion cell hypertrophy in an otherwise healthy man presented. Case presentation: A 52 years old man presented with nearsightness. He had no significant past medical history except myopia. Best corrected visual acuity was 10/10 in both eyes. Dilated fundus examination showed bilateral abnormal parafoveal yellow-white light reflex resembling cherry-red spot. Midperipheral retina had tiny pigmentary mottling and pigment epithelium atrophy areas in both eyes. OCT demonstrated bilateral hyperreflective parafoveal thickened ganglion cell layer. Bilateral mottled hyperfluorescent areas of midperipheral retina was seen in fundus fluorescein angiography. Hexosaminidase A, β-galactosidase, neuraminidase, and acidsphingmyelinaze activity were normal. Abdominal ultrasonography and central nervous system imaging had no pathological findings. Conclusions: This case seems a rare, sporadic, isolated retinal disorder with no systemic or ophthalmic associations.