PMID- 31264915
OWN - NLM
STAT- MEDLINE
DCOM- 20200403
LR  - 20200403
IS  - 1744-5094 (Electronic)
IS  - 1381-6810 (Linking)
VI  - 40
IP  - 3
DP  - 2019 Jun
TI  - 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.
PG  - 227-236
LID - 10.1080/13816810.2019.1627464 [doi]
AB  - 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.
FAU - Meinert, Monika
AU  - Meinert M
AD  - a Department of Clinical Sciences Lund, Ophthalmology , Lund University, Skane 
      University Hospital , Lund , Sweden.
FAU - Englund, Elisabet
AU  - Englund E
AD  - b Department of Clinical Sciences Lund, Oncology and Pathology , Lund University, 
      Skane University Hospital , Lund , Sweden.
FAU - Hedberg-Oldfors, Carola
AU  - Hedberg-Oldfors C
AD  - c Department of Pathology and Genetics , University of Gothenburg , Gothenburg , 
      Sweden.
FAU - Oldfors, Anders
AU  - Oldfors A
AD  - c Department of Pathology and Genetics , University of Gothenburg , Gothenburg , 
      Sweden.
FAU - Kornhall, Bjorn
AU  - Kornhall B
AD  - d Department of Clinical Sciences Lund, Cardiology , Lund University, Skane 
      University Hospital , Lund , Sweden.
FAU - Lundin, Catarina
AU  - Lundin C
AD  - e Department of Clinical Sciences Lund, Genetics and Pathology , Lund University, 
      Skane University Hospital , Lund , Sweden.
FAU - Wittstrom, Elisabeth
AU  - Wittstrom E
AD  - a Department of Clinical Sciences Lund, Ophthalmology , Lund University, Skane 
      University Hospital , Lund , Sweden.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20190702
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
RN  - 0 (LAMP2 protein, human)
RN  - 0 (Lysosomal-Associated Membrane Protein 2)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Cardiomyopathy, Hypertrophic/complications/*diagnosis/genetics
MH  - Female
MH  - Follow-Up Studies
MH  - Glycogen Storage Disease Type IIb/complications/*diagnosis/genetics
MH  - Humans
MH  - Lysosomal-Associated Membrane Protein 2/*genetics
MH  - *Mutation
MH  - Phenotype
MH  - Pigment Epithelium of Eye/metabolism/*pathology
MH  - Prognosis
MH  - Retinal Dystrophies/complications/*diagnosis/genetics
MH  - Retrospective Studies
MH  - Young Adult
OTO - NOTNLM
OT  - Danon disease
OT  - hypertrophic cardiomyopathy
OT  - mosaic mutation in
OT  - peripheral pigmentary retinal dystrophy
EDAT- 2019/07/03 06:00
MHDA- 2020/04/04 06:00
CRDT- 2019/07/03 06:00
PHST- 2019/07/03 06:00 [pubmed]
PHST- 2020/04/04 06:00 [medline]
PHST- 2019/07/03 06:00 [entrez]
AID - 10.1080/13816810.2019.1627464 [doi]
PST - ppublish
SO  - Ophthalmic Genet. 2019 Jun;40(3):227-236. doi: 10.1080/13816810.2019.1627464. 
      Epub 2019 Jul 2.