دورية أكاديمية
أعرض في EDS

Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6 -Associated Pattern Dystrophy.

التفاصيل البيبلوغرافية
العنوان: Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6 -Associated Pattern Dystrophy.
المؤلفون: Tsui JC; Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Ophthalmology, Veterans Affairs New Jersey Healthcare System, East Orange, NJ, USA., Aleman TS; Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Center for Advanced Retinal and Ocular Therapeutics (CAROT), University of Pennsylvania, Philadelphia, PA, USA.; Division of Ophthalmology, Children's Hospital of Philadelphia (CHOP), Philadelphia, PA, USA., Tapino PJ; Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kim BJ; Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
المصدر: Case reports in ophthalmology [Case Rep Ophthalmol] 2024 Jun 12; Vol. 15 (1), pp. 497-506. Date of Electronic Publication: 2024 Jun 12 (Print Publication: 2024).
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Karger AG Country of Publication: Switzerland NLM ID: 101532006 Publication Model: eCollection Cited Medium: Print ISSN: 1663-2699 (Print) Linking ISSN: 16632699 NLM ISO Abbreviation: Case Rep Ophthalmol Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel : Karger AG
مستخلص: 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.
Competing Interests: The authors have no financial disclosures.
(© 2024 The Author(s). Published by S. Karger AG, Basel.)
References: Retina. 2011 Mar;31(3):482-91. (PMID: 20966826)
Orphanet J Rare Dis. 2017 May 10;12(1):85. (PMID: 28486967)
Am J Hum Genet. 2012 Jan 13;90(1):25-39. (PMID: 22209248)
Eur J Ophthalmol. 2021 May;31(3):1146-1153. (PMID: 32483995)
N Engl J Med. 1993 Oct 21;329(17):1237-9. (PMID: 8413390)
Retina. 2009 Nov-Dec;29(10):1496-505. (PMID: 19823106)
Graefes Arch Clin Exp Ophthalmol. 2018 Sep;256(9):1605-1614. (PMID: 29948180)
Ophthalmology. 2006 May;113(5):814-20.e2. (PMID: 16650677)
Genet Med. 2017 Aug;19(8):909-917. (PMID: 28102862)
Clin Exp Dermatol. 2020 Jun;45(4):518-520. (PMID: 32212265)
Retina. 2020 Oct;40(10):1988-1995. (PMID: 31834130)
J Invest Dermatol. 2004 Mar;122(3):608-13. (PMID: 15086542)
GMS Ophthalmol Cases. 2011 Sep 15;1:Doc03. (PMID: 27625925)
N Engl J Med. 1987 Aug 6;317(6):347-50. (PMID: 3600730)
Graefes Arch Clin Exp Ophthalmol. 2020 Sep;258(9):1881-1892. (PMID: 32445016)
FEBS Lett. 2021 Mar;595(6):799-810. (PMID: 33058196)
Am J Med Genet A. 2010 Apr;152A(4):1049-58. (PMID: 20358627)
Arch Ophthalmol. 2005 Jul;123(7):923-8. (PMID: 16009832)
Hum Mutat. 2022 Dec;43(12):1872-1881. (PMID: 36317459)
Hum Mutat. 2001;18(1):85. (PMID: 11439001)
Expert Opin Orphan Drugs. 2014 Jun 01;2(6):567-577. (PMID: 25383264)
J Invest Dermatol. 2006 Apr;126(4):782-6. (PMID: 16410789)
JAMA Ophthalmol. 2020 Dec 1;138(12):1272-1279. (PMID: 33090206)
Am J Ophthalmol. 2020 Oct;218:255-260. (PMID: 32442430)
J Med Genet. 2007 Oct;44(10):621-8. (PMID: 17617515)
Ophthalmology. 2017 Mar;124(3):359-373. (PMID: 27986385)
J Eur Acad Dermatol Venereol. 2018 Apr;32(4):e147-e149. (PMID: 29024031)
فهرسة مساهمة: Keywords: ABCC6; Angioid streaks; Case report; Pattern dystrophy; Pseudoxanthoma elasticum
تواريخ الأحداث: Date Created: 20240717 Latest Revision: 20240718
رمز التحديث: 20240718
مُعرف محوري في PubMed: PMC11250126
DOI: 10.1159/000538045
PMID: 39015234
قاعدة البيانات: MEDLINE
الوصف
تدمد:1663-2699
DOI:10.1159/000538045