Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6 -Associated Pattern Dystrophy
Abstract: Introduction: We report a case of pseudoxanthoma elasticum (PXE) with an atypical phenotype likely related to a hypomorphic variant in ABCC6. Case Presentation: A 66-year-old Caucasian female with a history of a maculopathy interpreted as either age-related macular degeneration or a pattern dystrophy underwent a detailed ophthalmic evaluation. Visual acuities were 20/25, OD, and 20/20, OS. Spectral domain optical coherence and fluorescein angiography demonstrated outer retinal disruptions and breaks in retinal pigment epithelium (RPE)/Bruch’s membrane bilaterally, consistent with angioid streaks. A large area of hypo- and hyperautofluorescence extending from the central retina into the peripapillary retina was documented with short-wavelength excitation autofluorescence. The area of hypoautofluorescence, which was much larger on near-infrared excitation, spared the temporal retina. Two-color dark-adapted perimetries documented severe rod sensitivity losses and less severe cone sensitivity abnormalities co-localizing with the RPE abnormalities. No obvious skin findings were observed, and initial dermatologic biopsy was negative. Gene screening identified a pathogenic ABCC6 gene variant c.1552C>T and a previously reported variant of uncertain significance c.1171A>G. A second dermatologic biopsy demonstrated positive findings consistent with PXE. Conclusion: Although this patient had minimal skin findings, this patient had characteristic structural and functional abnormalities of a pattern dystrophy with angioid streaks and histologic evidence of PXE, suggesting compound heterozygous variants involving the hypomorphic ABCC6 c.1171A>G variant. These findings support the pathogenic role of both variants.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6 -Associated Pattern Dystrophy ; volume:15 ; number:1 ; year:2024 ; pages:490-499 ; extent:10
Case reports in ophthalmology ; 15, Heft 1 (2024), 490-499 (gesamt 10)
- Urheber
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Tsui, Jonathan C.
Aleman, Tomas S.
Tapino, Paul J.
Kim, Benjamin J.
- DOI
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10.1159/000538045
- URN
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urn:nbn:de:101:1-2406270041087.028672081779
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:51 MESZ
Datenpartner
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Beteiligte
- Tsui, Jonathan C.
- Aleman, Tomas S.
- Tapino, Paul J.
- Kim, Benjamin J.
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