Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Adult
Electroretinography
Female
Gene Expression Regulation
Glycogen Storage Disease Type IIb
/ complications
Humans
Lysosomal-Associated Membrane Protein 2
/ biosynthesis
Pedigree
RNA
/ genetics
Retinal Pigment Epithelium
/ pathology
Retinitis Pigmentosa
/ diagnosis
Tomography, Optical Coherence
/ methods
Visual Acuity
Young Adult
LAMP2
Danon disease
autofluorescence
pigmentary retinopathy
somatic mosaicism
spectral-domain optical coherence tomography
Journal
Acta ophthalmologica
ISSN: 1755-3768
Titre abrégé: Acta Ophthalmol
Pays: England
ID NLM: 101468102
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
received:
22
12
2019
accepted:
29
04
2020
pubmed:
14
6
2020
medline:
7
9
2021
entrez:
14
6
2020
Statut:
ppublish
Résumé
Danon disease (DD) is a rare X-linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocular examination for identification of DD. Detailed ocular examination in 10 patients with DD (3 males, 7 females) and a 45-year-old asymptomatic female somatic mosaic carrier of a LAMP2 disease-causing variant. All patients with manifest cardiomyopathy had pigmentary retinopathy with altered autofluorescence and diffuse visual field loss. Best corrected visual acuity (BCVA) was decreased (<0.63) in 8 (40%) out of 20 eyes. The severity of retinal pathology increased with age, resulting in marked cone-rod involvement overtime. Spectral-domain optical coherence tomography in younger patients revealed focal loss of photoreceptors, disruption and deposition at the retinal pigment epithelium/Bruch's membrane layer (corresponding to areas of marked increased autofluorescence), and hyperreflective foci in the outer nuclear layer. Cystoid macular oedema was seen in one eye. In the asymptomatic female with somatic mosaicism, the BCVA was 1.0 bilaterally. An abnormal autofluorescence pattern in the left eye was present; while full-field electroretinography was normal. Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of LAMP2 pathogenic variants, even in somatic mosaicism. Hence, further investigation should be undertaken in all patients with pigmentary retinal dystrophy as it may be a sign of a life-threatening disease.
Substances chimiques
LAMP2 protein, human
0
Lysosomal-Associated Membrane Protein 2
0
RNA
63231-63-0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
61-68Subventions
Organisme : Ministerstvo zdravotnictví České republiky (Agentura pro zdravotnický výzkum)
ID : NU20-07-00182
Organisme : Ministerstvo zdravotnictví České republiky (Agentura pro zdravotnický výzkum)
ID : NV19-08-00122
Organisme : Ministerstvo zdravotnictví České republiky (Agentura pro zdravotnický výzkum)
ID : 15-27682A
Organisme : Ministerstvo zdravotnictví České republiky
ID : RVO-VFN 64165/2012
Organisme : Univerzita Karlova v Praze
ID : PROGRES Q26/LF1
Organisme : Univerzita Karlova v Praze
ID : SVV UK 260516
Organisme : Univerzita Karlova v Praze
ID : UNCE 204064
Organisme : Moorfields Eye Hospital National Health Service Foundation Trust and UCL Institute of Ophthalmology
Informations de copyright
© 2020 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.
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