Novel Compound Heterozygous Mutations Resulting in Cone Dystrophy With Supernormal Rod Response

Abstract

seemed to be dark.The narrowing of the retinal vessels and disc pallor diminished gradually over time.In the late phase of the attack (after 1 minute 28 seconds), the retinal vessels were dilated and the disc was hyperemic.Video 2 and Video 3 show the reperfusion of the retinal circulation in the late phase.The images obtained immediately after the attack (Figure 2) show the dilated retinal vessels in the right eye.The images show that the retinal veins and arteries in the right eye were more dilated than those in the left eye (not shown) or those obtained under normal conditions 1 month after the attack.No hypercoagulability was identified with hematologic and serologic testing.Findings on neurologic tests and magnetic resonance imaging of the brain were normal.The patient was treated with propranolol hydrochloride because of an allergy to lomerizine hydrochloride, and the retinal migraines have not recurred.Discussion | Most cases of previously documented retinal vasospasms have been associated with emboli or systemic diseases. 1,3,4Most cases reported to be retinal migraine were cases of presumed retinal vasospasm, and this disorder is exceedingly rare. 5Because our patient had no systemic disease except migraine and no embolus, the attacks were likely to have been primary vasospasms.The images clearly show vasospasm in a patient with a history of migraine with aura, which supports the belief that retinal migraine is a distinct entity.Individual cases of transient monocular vision loss have varied in the main component of vasoconstriction. 6In our case, diffuse narrowing of the retinal vessels may have represented decreased blood flow in the central retinal artery, and disc pallor and a dark choroid may have indicated decreased posterior ciliary circulation.Therefore, we speculated that the main component of the vasoconstriction may be the ophthalmic artery and that marked retinal vasodilation at the end and immediately after the attack may represent compensation for hypoxia of the retinal tissues.