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Danon disease prese...
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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- Meinert, Monika (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Englund, Elisabet (författare)
- Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Oldfors Hedberg, Carola, 1969 (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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- Oldfors, Anders, 1951 (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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- Kornhall, Björn (författare)
- Lund University,Lunds universitet,Kardiologi,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Cardiology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Lundin, Catarina (författare)
- Lund University,Lunds universitet,Genetiska och epigenetiska studier av barnleukemi,Forskargrupper vid Lunds universitet,Genetic and epigenetic studies of pediatric leukemia,Lund University Research Groups,Skåne University Hospital
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- Wittström, Elisabeth (författare)
- Lund University,Lunds universitet,Klinisk forskning kring familjer med ärftliga näthinnesjukdomar,Forskargrupper vid Lunds universitet,Clinical research in families with inherited retinal degeneration,Lund University Research Groups,Skåne University Hospital
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(creator_code:org_t)
- 2019-07-02
- 2019
- Engelska.
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Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1381-6810 .- 1744-5094. ; 40:3, s. 227-236
- Relaterad länk:
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https://www.tandfonl...
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http://dx.doi.org/10... (free)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Nyckelord
- Danon disease
- hypertrophic cardiomyopathy
- peripheral pigmentary retinal dystrophy
- mosaic mutation in LAMP2
- iscev standard
- germline mosaicism
- features
- patient
- Genetics & Heredity
- Ophthalmology
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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