case_images: PMC10904492_01
case_images: Clinical time course and retinal phenotypes of two cases of Senior-Loken syndrome. A Time course of patient 1 showing presentations of kidney and eye features. B Wide-angle colour fundus images of patient 1 showing a normal retinal appearance apart from some peripapillary pallor. C Wide-angle autofluorescence images of patient 1 showing reduced signal outside of the peripapillary area indicating widespread loss of retinal pigment epithelium/photoreceptor cells. D Posterior pole macular optical coherence tomography (OCT) images of patient 1 show well-preserved photoreceptor integrity. E Time course of patient 2 showing presentations of kidney and eye features. F Wide-angle colour fundus images of patient 2 showing a normal retinal appearance. G Wide-angle autofluorescence images of patient 2 showing a normal appearance apart from some far peripheral paving stone retinal pigment epithelium degeneration. H Posterior pole macular OCT images showing outer photoreceptor granularity indicating cone disruption
case_images: 44162_2024_31_Fig1_HTML.jpg
case_images: PMC10904492_01_44162_2024_31_Fig1_HTML.jpg
case_images: Fig1
case_images: He is now maintained on in-centre haemodialysis via a fistula (Fig. 1A). In terms of extra-renal phenotypes, the patient was initially seen in the ophthalmology department at the age of 59 when he complained of difficulty seeing in the dark (Fig. 1A). His visual acuity was 6/9 bilaterally, and his retinal examination and wide-angle imaging were unremarkable except for some loss of retinal pigment around his optic discs with an associated increase in localised fundus autofluorescence signal (Fig. 1B, C). A macular optical coherence tomography (OCT) scan showed an intact ellipsoid zone layer indicating well-preserved macula photoreceptor structure (Fig. 1D). Society for Clinical Electrophysiology of Vision (ISCEV) standard full-field electroretinogram (ERG) revealed widespread retinal photoreceptor dysfunction in a pattern consistent with a rod-cone dystrophy (Additional file 1: Fig. S1). The patient is currently 54 years of age (Fig. 1E). The patient started to develop difficulty with her central vision and photophobia at the age of 32 years (Fig. 1E). At this stage, retinal examination and wide-angle imaging were unremarkable except for some peripheral paving stone degeneration which can be a normal finding (Fig. 1F). Wide-angle fundus autofluorescence imaging was normal (Fig. 1G). A macular OCT scan showed widespread fragmentation and loss of the ellipsoid zone layer indicating loss of macula photoreceptor structure (Fig. 1H).