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Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene.

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  • معلومة اضافية
    • المصدر:
      Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
    • بيانات النشر:
      Publication: London : Informa Healthcare
      Original Publication: Buren, The Netherlands : Aeolus Press, c1994-
    • الموضوع:
      Mutation*; Cardiomyopathy, Hypertrophic/*diagnosis ; Glycogen Storage Disease Type IIb/*diagnosis ; Lysosomal-Associated Membrane Protein 2/*genetics ; Pigment Epithelium of Eye/*pathology ; Retinal Dystrophies/*diagnosis; Adult ; Age of Onset ; Cardiomyopathy, Hypertrophic/complications ; Cardiomyopathy, Hypertrophic/genetics ; Female ; Follow-Up Studies ; Glycogen Storage Disease Type IIb/complications ; Glycogen Storage Disease Type IIb/genetics ; Humans ; Phenotype ; Pigment Epithelium of Eye/metabolism ; Prognosis ; Retinal Dystrophies/complications ; Retinal Dystrophies/genetics ; Retrospective Studies ; Young Adult
    • نبذة مختصرة :
      Purpose : To describe the phenotype and genotype in a young woman with Danon disease. Methods : The patient underwent an ophthalmic examination including best corrected visual acuity (BCVA), fundus photography and fundus autofluorescence (FAF), full-field electroretinography (full-field ERG), multifocal ERG, optical coherence tomography (OCT) and SAP-Humphrey 30-2 at the ages of 20 and 25. Electrooculography, fluorescein angiography (FA), indocyanine angiography and OCT angiography were performed only once. Genetic testing using a Next-Generation Sequencing panel and immunohistochemical analysis of LAMP2 protein expression were performed in the patient's explanted heart, and the patient's cardiologic and ophthalmologic records were retrospectively reviewed. Results : A de novo , novel, mosaic mutation, c.135dupA; p.(Trp46Metfs*10) was identified in exon 2 of the LAMP2 gene. Immunohistochemical investigation of the myocardium in the explanted heart revealed pronounced deficiency of LAMP2 protein in cardiomyocytes. The color photographs, FAF images and FA revealed more extensive peripheral pigmentary retinal dystrophy (PPRD) at the 5-year follow-up examination. No changes were observed in BCVA, OCT, SAP-Humphrey 30-2 or multifocal ERG findings at follow-up. Full-field ERG showed an asymmetric interocular reduction in ERG response at follow-up: the b-wave amplitude of the rod response had decreased by 29% in the right eye, but by only 6 % in the left eye. The a-wave amplitude of single-flash response had decreased by 9 % in the left eye, while it had increased by 3% in the right eye. Conclusions : Although PPRD progressed slowly, it was an important clue in the diagnosis of the life-threatening condition of Danon disease.
    • Contributed Indexing:
      Keywords: Danon disease; hypertrophic cardiomyopathy; mosaic mutation in; peripheral pigmentary retinal dystrophy
    • الرقم المعرف:
      0 (LAMP2 protein, human)
      0 (Lysosomal-Associated Membrane Protein 2)
    • الموضوع:
      Date Created: 20190703 Date Completed: 20200403 Latest Revision: 20200403
    • الموضوع:
      20221213
    • الرقم المعرف:
      10.1080/13816810.2019.1627464
    • الرقم المعرف:
      31264915