case_images: PMC11446184_01
case_images: Multimodal imaging of the right eye (left column) and the left eye (right column) of the patient at the age of 27. (A) Fundus photography shows alterations in the retinal pigment epithelium characterized by hypopigmentation and narrowing of retinal vessels in both eyes. (B) Fundus autofluorescence imaging reveals areas of hyper-autofluorescence corresponding to the lesions and a generally diminished autofluorescent signal within and beyond the vascular arcades. (C) Optical coherence tomography reveals disruption of ellipsoid zone (EZ), interdigitation zone and external limiting membrane in the right eye. In contrast, the left eye exhibited a faintly preserved EZ in the foveal region.
case_images: fmed-11-1442107-g001.jpg
case_images: PMC11446184_01_fmed-11-1442107-g001.jpg
case_images: fig1
case_images: Examination of the posterior segment through fundus photography disclosed alterations in the RPE characterized by hypopigmentation, as well as narrowing of retinal vessels OU (Figure 1A). Both conventional and ultra-widefield fundus autofluorescence (FAF) imaging revealed areas of hyper-autofluorescence corresponding to the lesions and a generally diminished FAF signal within and beyond the vascular arcades (Figure 1B). In contrast, the left eye exhibited a faintly preserved EZ in the foveal region (Figure 1C).
case_images: Full-field electroretinograms in an age-matched control and the patient (JU2139). The electroretinograms are recorded under both dark-adapted (DA) and light-adapted (LA) conditions in the right eye (OD) and in the left eye (OS). The recorded amplitudes of the rod (DA 0.01 cd s m-2) b-waves, standard/bright-flash (DA 3.0/10.0 cd s m-2) a- and b-waves, cone (LA 3.0 cd s m-2) a- and b-waves and LA 30-Hz flicker responses are undetectable in the patient, signifying a generalized dysfunction of both rod and cone systems.
case_images: fmed-11-1442107-g002.jpg
case_images: PMC11446184_01_fmed-11-1442107-g002.jpg
case_images: fig2
case_images: International Society for Clinical Electrophysiology of Vision protocols. In the ERGs, the recorded amplitudes of the rod (DA 0.01 cd s m-2) b-waves, standard/bright-flash (DA 3.0/10.0 cd s m-2) a- and b-waves, cone (LA 3.0 cd s m-2) a- and b-waves and LA 30-Hz flicker responses were undetectable (Figure 2), signifying a generalized dysfunction of both rod and cone systems.
case_images: Molecular genetic analysis data. (A) In the patient, the Integrative Genomics Viewer screenshots of whole exome sequencing validation data show a heterozygous missense variant c.1172C > A; p.(Ala391Asp) in exon 11 and a heterozygous missense variant c.1543C > T; p.(Arg515Trp) in exon 14 of the RPE65 gene (NM_000329.3). (B) Sanger sequencing chromatograms of RPE65. Partial nucleotide sequences demonstrate that the patient (JU2139) carries the compound heterozygous variants (c.1172C > A; p.(Ala391Asp) and c.1543C > T; p.(Arg515Trp)), whereas his mother and father carry the heterozygous variants p.(Ala391Asp) and p.(Arg515Trp), respectively.
case_images: fmed-11-1442107-g003.jpg
case_images: PMC11446184_01_fmed-11-1442107-g003.jpg
case_images: fig3
case_images: T, GRCh38.p14, rs753540419); p.(Ala391Asp) in exon 11 and c.1543C > T (chr1:68429835G > A, GRCh38.p14, rs121917745);p.(Arg515Trp) in exon 14. These variants were visualized using the Integrative Genomic Viewer (IGV version 2.16.2, Broad Institute, MA, United States) software, as depicted in Figure 3A. His mother carried the p.(Ala391Asp) variant heterozygously, while his father carried the p.(Arg515Trp) variant heterozygously (Figure 3B).