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.