Suzanne de Bruijn

85 Homozygous KIAA1549 variants are associated with retinitis pigmentosa Table 1. Clinical features at most recent examination in patients with segregating KIAA1549 variants Patient Sex/ Age (y) Initial symptoms, age (y) Visual acuity Spherical equivalent Lens status Ophthalmoscopy results ERG Goldmann perimetry RE LE RE LE scot phot A-II:1 M/38 Night blindness (8) 20/40 20/50 -4.38 -5.25 Cortical cataracts Severely attenuated retinal vessels, RPE atrophy with bone spicule and nummular pigmentation in the periphery, preserved posterior pole, and absence of optic disc pallor NP NP NP A-II:2 F/54 Night blindness (28) 20/400 20/400 -6.50* -7.25 Pseudophakia Attenuated retinal vessels, severe RPE atrophy BE, with recognizable foveal island, moderate optic disc pallor, bone spicule and nummular pigmentations, white epiretinal changes, and old Coats-like exudative vasculopathy inferior quadrants BE NR ‡ NR ‡ Constricted VF, central residue <5° (age 48) B-II:1 M/54 Night blindness (~45) 20/60 20/20 -2.00 -2.13 Clear Attenuated vessels, midperipheral bone spicule and nummular pigmentation, waxy pallor of the optic discs, and CME (RE>LE) SR MR RE: midperipheral ring scotoma LE: partial midperipheral ring scotoma. VF affected temporal>nasal BE BE, both eyes; CME, cystoid macular edema; ERG, electroretinography; F, female; LE, left eye; M, male; MR, moderately reduced; NP, not performed; NR, non-recordable; phot, photopic; RE, right eye; scot, scotopic; SR, severely reduced; VF, visual field; y, years. *Prior to cataract surgery. ‡ ERG performed at the age of 32.