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Pattern Dystrophy – Butterfly Wing

Description

A 77-year-old male diagnosed with pattern dystrophy – butterfly wing presents with vision loss in the right eye.

VA OD 20/50 OS 20/30.

Fundus examination shows yellowish lesions and pigment deposits in the macula of both eyes. Autofluorescence of the left eye reveals a hyper-hypoautofluorescent pattern in butterfly wing or cartwheel shape typical of this condition; in the right eye, hyper- and hypoautofluorescent lesions are also observed but without the typical pattern. OCT of the left eye shows atrophy of the outer retina and RPE at the foveal level. OCT of the right eye shows hyperreflective subretinal material and the double layer sign (RPE and Bruch’s membrane) suggesting the presence of choroidal neovascularization (CNV), which is confirmed by angio-OCT.

Comments

Pattern dystrophies are a group of conditions caused by alterations in the PRPH2/RDS gene. They consist of lipofuscin accumulation in the RPE in different patterns. In this case, it's the “butterfly wing” pattern due to the radial arrangement of vitelliform material and pigment. Like many other macular dystrophies, it can be complicated by the appearance of secondary CNV.

Indication