Suzanne de Bruijn

86 Chapter 2 In addition, the SD-OCT image of patient B-II:1 showed evident cystoid macular edema, that was refractory to topical treatment with nonsteroidal anti-Inflammatory drugs, steroids, as well as both topical and oral carbonic anhydrase inhibitor treatment ( Figure 2F ). Electrophysiology examination demonstrated a generalized retinal dystrophy with non-recordable rod and cone-driven responses in patient A-II:2 at the age of 32 years, and severely reduced rod and cone-driven responses in patient B-II:1 at 54 years of age. Finally, perimetric analysis revealed a severely constricted visual field up to 5 degrees in patient A-II:2, and a complete and partial ring scotoma in the right and left eye of patient B-II:1, respectively. No visual field testing was performed in patient A-II:1, yet he reported severe visual field constriction. All patients were in good general health, and no non-ocular conditions were reported. A-II:2 B-II:1 A B C F D E Figure 2. Multimodel retinal imaging of patients with segregating KIAA1549 variants. (A–C) , Clinical characteristics of patient II:2 of Family A. (A) Composite fundus photograph of the right eye of patient A-II:2 showing attenuated retinal vessels, bone spicule and nummular pigmentation, moderate optic disc pallor, and a remnant of RPE between optic disc and macula, and at the fovea. (B) Infrared image of the posterior pole of the right eye of patient A-II:2, indicating the position of the corresponding optical coherence tomography (OCT) examination. (C) Spectral-domain OCT showing atrophy of the outer retina with intact photoreceptors in the fovea. (D–F) , Clinical characteristics of patient II:1 of Family B. (D) Composite fundus photograph of the right eye of patient B-II:1, showing attenuated retinal vessels, waxy pallor of the optic disc, and midperipheral bone spicule and nummular pigmentation. (E) Fundus autofluorescence of the right eye of patient B-II:1, showing a central hyperautofluorescent ring surrounding the normal appearing retina, hypoautofluorescence spots along and external to the vascular arcade, and a spoke wheel pattern in the fovea corresponding to the cystoid macular edema visible on OCT. (F) SD-OCT scan taken along the horizontal meridian of the central retina, revealing peripheral loss of the outer retina with central preservation of the ellipsoid band, and macular cysts.