Familial Retinal Lesions
• Sometimes a fundus abnormality is so unique that the lesion is considered “pathognomonic” of a specific disease or syndrome.
• The characteristic “chorloretlnal lacunae” combined with infantile spasms and agenesis of the corpus callosum comprise Aicardi Syndrome (AS).
• Here we present two sisters with highly characteristic, if not pathognomonic, chorioretinal lesions of AS, but without any of the expected neurological signs or symptoms.
• Differential diagnosis of these chorioretinal lacunae from other fundus lesions can be accomplished with recognition of the ophthalmoscopic appearance of these unique lesions.