Skip to main content
. 2025 Jul 17;16(7):835. doi: 10.3390/genes16070835

Figure 2.

Figure 2

Representative ophthalmic findings of Case 1, 9, 10, and 12. In case 1 (A–F, NPHP1: homozygous whole gene deletion), wide-field fundus photographs (WFP; A,B) show classic retinitis pigmentosa (RP) sine pigmento with a preserved fovea. Spectral-domain optical coherence tomography (OCT; E,F) reveals parafoveal photoreceptor (PR) loss sparing the foveal center. Wide-field fundus autofluorescence (WFAF; C,D) demonstrates a perifoveal hypo-autofluorescent ring bordered by a hyper-autofluorescent bull’s-eye pattern. In case 9 (G–L, NPHP4: c.1972C > T; c.453-1G > C, compound heterozygous), WFP (G,H) depicts central and pericentral RP with coarse bone-spicule pigmentation. OCT (K,L) shows bilateral perifoveal PR degeneration. WFAF (I,J) displays diffuse perifoveal hypo-autofluorescence encircled by a hyper-autofluorescent ring. In case 10 (M–R, NPHP4: c.2964del, homozygous), WFP (M,N) demonstrates bilateral central-sparing diffuse RP and peripheral pigmentation. OCT (Q,R) shows widespread outer-retinal atrophy sparing the foveal center. WFAF (O,P) highlights marked perifoveal and peripapillary hypo-autofluorescence with foveal sparing. In Case 12 (S–X, IQCB1: c.1522_1523dup; 5.8-kb intronic deletion), WFP (S,T) reveals RP sine pigmento without overt pigment migration. OCT (U,V) exhibits parafoveal PR disruption. WFAF (W,X) shows a hyper-autofluorescent bull’s eye ring surrounded by perifoveal hypo-autofluorescence.