The butterfly-shaped pigment dystrophy is an extremely rare autosomal dominant retinal disorder. The authors present a case of butterfly-shaped pigment dsytrophy not reported previously in Korea.

A 45-year-old man had bilateral blurred vision for 2 years. His visual acuity was 0.2 in the right eye, and 0.3 in the left and was uncorrected. Funduscopically, yellow pigment deposits were present at the level of retinal pigment epithelium (RPE) in the central macula of both eyes. Fluorescein angiography (FA) revealed a central, dark, butterfly-shaped lesion surrounded by a region of hyperfluorescence, Spectral domain optical coherence tomography (OCT) showed thick elevation of the RPE with hyperreflectivity and disruption of the inner and outer segment (IS/OS) interface of the photoreceptors. The patient had normal color vision, visual field and electroretinograms and reduced electrooculograms.

In general, butterfly-shaped pigment dystrophy is known to have good visual prognosis. However, in some cases the disease can be a chronic progressive disorder with secondary involvement of the photoreceptors, as exemplified this patient. The authors anticipate more detail regarding the natural course of this disease will be obtained through spectral domain OCT.