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| Revue : |
Neurology, 91, 5 |
| Titre : |
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. |
| Type de document : |
Article |
| Auteurs : |
Wohlgemuth M, Auteur ; Lemmers RJ, Auteur ; Jonker M, Auteur ; van der Kooi E, Auteur ; Horlings CG, Auteur ; van Engelen BG, Auteur ; van der Maarel SM, Auteur ; Padberg GW, Auteur ; Voermans NC, Auteur |
| Année de publication : |
31/08/2018 |
| Pages : |
p. 444-454 |
| Langues : |
Anglais (eng) |
| Mots-clés : | dystrophie musculaire facio-scapulo-humérale ; étude observationnelle ; génotype ; ophtalmologie ; phénotype ; rétine ; tomographie ; tomographie en cohérence optique
| | Résumé : | OBJECTIVE: An observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the penetrance of FSHD1 and to evaluate phenotype-genotype correlations...
Disputes & Debates: Rapid online correspondence
>>> Retinal vascular abnormalities as manifestation of facioscapulohumeral dystrophy
Tuy Nga Brignol, MD, Ophthalmologist, Medical Affairs Department, The French Muscular Dystrophy Association (AFM-Telethon) (Evry, France)
Other Contributors: J. Andoni Urtizberea, MD, Clinical Myologist/Deputy Coordinator of the French Neuromuscular Network, Hôpital Marin, APHP (Hendaye, France)/FILNEMUS (Marseille, France)
Published August 15, 2018
We read with interest the article reporting on facioscapulohumeral muscular dystrophy type 1 (FSHD1) probands and their relatives. Penetrance of FSHD, based on muscle symptoms, depends on D4Z4 repeat size and continues to increase in adulthood. [1] It would be interesting to study the penetrance of retinal vasculopathy in this family, by using optical coherence tomography angiography (OCT-A), a noninvasive imaging technique that acquires volumetric angiographic information without the use of a dye. Indeed, according to the existing literature, only a systematic examination of eye fundus can detect telangiectasia and aneurysms, which may be present early in life before evidence of muscle disease. [2] Very few complaints related to retinal alteration have been reported by patients with FSHD, as retinal lesions rarely affect the macula. A more severe retinal vasculopathy, known as Coats-like retinopathy, is observed by fluorescein angiography in 40% to 75% of patients with FSHD. However, retinal findings prior to the diagnosis of FSHD is only detected in very rare cases. [3-5]
In lieu of this data, we believe that interdisciplinary collaborations between neurologists and ophthalmologists are important—not only for diagnostic and counselling viewpoints, but also to better understand the relation between genotype and phenotype, and mechanisms that regulate expression.
[1] Wohlgemuth M, Lemmers RJ, Jonker M, et al. A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Neurology 2018;91:e444-e454.
[2] Fitzsimons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain 1987;110:631-648.
[3] Vance SK, Wald KJ, Sherman J, Freund KB. Subclinical facioscapulohumeral muscular dystrophy masquerading as bilateral Coats disease in a woman. Arch Ophthalmol 2011;129:807-809.
[4] Shields CL, Zahler J, Falk N, et al. Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child. Arch Ophthalmol 2007;125:840-842.
[5] Ganesh A, Kaliki S, Shields CL. Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy. J AAPOS 2012;16:204-206.
>>> Author response to Drs. Brignol & Urtizberea
Nicol C. Voermans, Neurologist, Radboud University Medical Centre (Nijmegen, Netherlands)
Other Contributors: Rianne J. Goselink, Neurologist Trainee, Radboud University Medical Centre (Nijmegen, Netherlands) / Published August 29, 2018
We thank Drs. Brignol and Urtizberea for the comment on our article. [1] We fully agree that retinal abnormalities are an interesting additional mode to study the penetrance of facioscapulohumeral dystrophy (FSHD). Indeed, we are currently performing an observational study on retinal abnormalities in another cohort of patients with FSHD. We acknowledge that a family-based approach would offer additional insights. Also, we fully agree that interdisciplinary collaborations enhance our understanding of the pathophysiology and optimal care for patients. | | Lien associé : | lien vers l'article sur la revue Neurology | | Pubmed / DOI : | DOI : 10.1212/WNL.0000000000005915  / Pubmed : https://www.ncbi.nlm.nih.gov/pubmed/?term=29997197 | | N° Profil MNM : | 2018072 | | En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/29997197 |
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