Fig. 1. Early retinal degeneration and kidney cyst in a patient
with NPHP1 deletion.
(A)
Representative color fundus photographs of the patient with NPHP1
deletion showing normal fundus in both eyes without optic disc pallor or
retinal dystrophy. (B) Vision field examination demonstrating bilateral
visual field loss in this patient. The grayscale plots present as a
cluster of paracentral points with decreased sensitivity and scotoma.
(C) Full field standard ERG of OD showing increased implicit time and
reduced amplitude in scotopic 0.01 ERG, and in photopic 3.0 ERG. (D)
Representative hematoxylin and eosin (H&E)-stained kidney sections
showing the histological pattern in normal human and the patient with
NPHP1 deletion. Kidney specimen is shown at low (left) and high (right)
magnification. Kidney histology of NPHP1 patient illustrates the
characteristic triad of corticomedullary cysts, tubular basement
membrane disruption, and tubulointerstitial nephropathy. Scale bars =
(left) 200μm; (right) 50 μm. Transmission electron micrographs of
primary cilia and TBM in kidney epithelial cells from the NPHP1 deletion
patient. TEM reveals thickened tubular membrane and decreased cilia.
Scale bars = 2μm.