PMC8520494_01
(a) OCT at age 5 on presentation of right eye showing minimal perifoveal cystic changes and extensive loss of IS/OS junction. (b) OCT of the right eye at 6 years of age demonstrating cystoid macular edema. Similar findings were noted in her left eye as well. (c) OCT of the right eye demonstrating persistent macular edema despite carbonic anhydrase inhibitors. Similar findings noted in the left eye. (d) Representative retinal autofluorescence revealed diffuse spotted pattern of hyperautofluorescence in midperiphery. (e) Central view of fundoscopic imaging revealing nummular patches. (f) Fundoscopic montage imaging at last follow-up revealing bilateral salt and pepper changes, a hypopigmented patch in the macula of both eyes, and bilateral nummular patches of hyperpigmentation in periphery. The optic nerve had no significant pallor, and the vessels were not attenuated.
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OCT revealed few cystic changes in the macula with loss of foveal depression and ellipsoid zone in the right eye (Figure 1(a)). At 6 years of age, she was noted to develop new bilateral cystoid macular edema, a finding not previously reported in this syndrome (Figure 1(b)). However, despite long-term therapy with topical dorzolamide for 5 years, her macular edema persisted (Figure 1(c)) through her most recent follow-up at 13 years of age. Retinal autofluorescence revealed a diffuse spotted pattern of hyperautofluorescence in the midperiphery (Figure 1(d)). Fundus photos demonstrated stable bilateral salt and pepper changes, with bilateral nummular patches of hyperpigmentation with a hypopigmented patch in the macula of each eye (Figures 1(e) and 1(f)).