ArticleDocumenta ophthalmologica. Advances in ophthalmology2025
Angioid streaks in hereditary spherocytosis associated with an SPTB gene variant.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2025. 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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Abstract
purposeTo report a case of hereditary spherocytosis (HS) carrying a pathogenic variant in the SPTB gene, presenting with angioid streaks (ASs) and central retinal dysfunction.
methodsA 63-year-old female patient diagnosed with HS was evaluated using multimodal imaging, full-field and multifocal electroretinograms (ffERGs and MfERGs), and genetic testing with an HS gene panel.
resultsHer best-corrected visual acuity was Snellen equivalent 20/22 in the right eye and 20/20 in the left eye. Fundus examination revealed ASs with chorioretinal atrophy around the optic discs in both eyes (OU). Fundus autofluorescence imaging showed areas of autofluorescence loss corresponding to ASs and chorioretinal atrophy. In the ffERGs, dark-adapted (DA) 0.01 b-wave amplitudes and DA 3.0/10.0 a-wave amplitudes were nearly normal, but b-wave amplitudes were slightly reduced in OU. Meanwhile, light-adapted (LA) 3.0 a- and b-wave amplitudes, as well as the LA 30 Hz flicker amplitudes, were slightly reduced. The mfERG trace arrays showed amplitude reductions, particularly in the central to temporal regions in OU. Genetic testing identified a heterozygous splice-site variant (c.4973 + 5G > A) in SPTB (NM_001355436.2), classified as likely pathogenic.
conclusionsThis is the first reported case of an HS patient with ASs associated with an SPTB variant, exhibiting mild cone system dysfunction accompanied by central retinal dysfunction.
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