ArticleFrontiers in ophthalmology2026
Article in Frontiers in ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
Introduction: To report a Japanese family with inherited retinal dystrophy (IRD) in which Methods: This retrospective case series included three brothers diagnosed with retinal dystrophy at Juntendo University Hospital. Comprehensive ophthalmic evaluations were performed, including best-corrected visual acuity (BCVA), Goldmann perimetry, fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), and full-field electroretinogram (ERG). Genetic testing was conducted using next-generation sequencing with an IRD gene panel. Results: All three patients exhibited progressive visual decline with onset in their 40s-50s. Fundus examination revealed severe macular atrophy in two brothers (Cases 1 and 2), consistent with cone-rod dystrophy, whereas the youngest (Case 3) showed diffuse retinal degeneration with bone-spicule pigmentation resembling retinitis pigmentosa. FAF demonstrated hypoautofluorescence in the macula and hyperautofluorescence at the borders of atrophic areas in Cases 1 and 2, but widespread hypoautofluorescence in Case 3. ERG revealed rod-cone dysfunction in Cases 1 and 2 and non-recordable responses in Case 3. Genetic analysis identified a single heterozygous Conclusions: This study describes a Japanese family with IRD showing substantial intrafamilial phenotypic heterogeneity, ranging from macular-predominant cone-rod dystrophy to generalized rod-cone dystrophy, in the context of identified
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