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Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

B. Kousal, F. Majer, H. Vlaskova, L. Dvorakova, L. Piherova, M. Meliska, H. Langrova, T. Palecek, M. Kubanek, A. Krebsova, J. Gurka, V. Stara, M. Michaelides, T. Kalina, J. Sikora, P. Liskova

. 2021 ; 99 (1) : 61-68. [pub] 20200613

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc21026091

Grantová podpora
NU20-07-00182 Ministerstvo zdravotnictví České republiky (Agentura pro zdravotnický výzkum)
NV19-08-00122 Ministerstvo zdravotnictví České republiky (Agentura pro zdravotnický výzkum)
15-27682A Ministerstvo zdravotnictví České republiky (Agentura pro zdravotnický výzkum)
RVO-VFN 64165/2012 Ministerstvo zdravotnictví České republiky
PROGRES Q26/LF1 Univerzita Karlova v Praze
SVV UK 260516 Univerzita Karlova v Praze
UNCE 204064 Univerzita Karlova v Praze
Moorfields Eye Hospital National Health Service Foundation Trust and UCL Institute of Ophthalmology
NV15-27682A MZ0 CEP - Centrální evidence projektů

Digitální knihovna NLK
Plný text - Článek

E-zdroje Online Plný text

NLK Free Medical Journals od 2008 do Před 1 rokem
Medline Complete (EBSCOhost) od 2008-02-01 do Před 1 rokem
Wiley Free Content od 2008 do Před 1 rokem

Odkazy

PubMed 32533651
DOI 10.1111/aos.14478
Knihovny.cz E-zdroje

PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Citace poskytuje Crossref.org

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