Abstract
Objective
To analyze ocular involvement in patients diagnosed with Marfan syndrome (MFS), study
their clinical findings and prognosis based on the type of FBN1 mutation, and evaluate possible genotype–phenotype correlations.
Design
Observational single-centre case series.
Participants
Eleven patients diagnosed with MFS were included. All subjects met the Ghent criteria
of MFS, the diagnosis was confirmed by genetic testing.
Methods
All subjects underwent a complete ophthalmologic examination. We evaluated clinical
data, the incidence of ectopia lentis (EL), and other eye disorders. The association
of ocular signs with the type of mutation was analyzed.
Results
Four of the 11 patients had EL, of which 3 developed secondary glaucoma, and 62.5%
of the phakic patients had myopia. Other ocular abnormalities included strabismus,
retinal tears, retinal detachment, and amblyopia. The encountered types of mutations
were premature termination codon (PTC) in 7 patients, missense in 2 cases, 1 aberration
of splicing, and 1 indel mutation. Two novel mutations were found. Of the patients
with EL, 2 had a missense, 1 an indel, and 1 a nonsense mutation.
Conclusions
Myopia was the most frequent ocular involvement. Patients with a PTC mutation revealed
to have a smaller risk of EL; however, more studies are required to indicate the mechanism
of the correlation.
Résumé
Objectif
Analyser l'atteinte oculaire chez les patients ayant reçu un diagnostic du syndrome
de Marfan (MFS), étudier leurs résultats cliniques et le pronostic en fonction du
type de mutation dans le gène FNBN1 et évaluer les corrélations génotype-phénotype
possibles.
Nature
Observation d’une série de cas dans un seul centre.
Participants
11 patients ayant reçu un diagnostic du syndrome de Marfan. Tous les sujets répondaient
aux critères de Gand du syndrome de Marfan, et le diagnostic a été confirmé par des
tests génétiques.
Méthodes
Tous les sujets ont subi un examen ophtalmologique complet. Nous avons évalué les
données cliniques et l'incidence de l'ectopie du cristallin (EC) et d'autres troubles
oculaires. Nous avons aussi analysé les liens entre les signes oculaires et le type
de mutation.
Résultats
4 des 11 patients avaient une EC, dont 3 ont développé un glaucome secondaire. 62,5
% des patients phaques étaient myopes. Entre autres anomalies oculaires constatées,
mentionnons le strabisme, des déchirures rétiniennes, un décollement de la rétine
et l'amblyopie. Nous avons constaté les types de mutation. suivants: 7 cas de terminaison
prématurée du codon, 2 cas de faux-sens, 1 cas d'aberration de l'épissage et 1 de
mutation indel. Deux nouveaux types de mutations ont été trouvées. Chez les patients
atteints d'EC, nous avons relevé 2 cas de faux-sens, 1 cas d'indel et 1 cas de non-sens.
Conclusions
La myopie est l'atteinte oculaire la plus fréquente. Les patients chez qui nous avons
constaté une terminaison prématurée du codon couraient un risque plus faible d'EC,
mais d'autres études sont nécessaires pour déterminer le mécanisme de la corrélation.
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Article info
Publication history
Accepted:
December 23,
2015
Received in revised form:
September 27,
2015
Received:
March 1,
2015
Footnotes
Presented as a poster at the 2013 annual ARVO Meeting in Seattle, Wash.
Identification
Copyright
© 2016 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.
