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Abstract #67150 Published in IGR 17-4
Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations
Latasiewicz M; Fontecilla C; Millá E; Sánchez ACanadian Journal of Ophthalmology 2016; 51: 113-118
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.
Department of Ophthalmology, Hospital Clinic of Barcelona, Barcelona, Spain. Electronic address: mjlatasi@clinic.ub.es.
Full articleClassification:
9.4.4.3 Glaucomas associated with lens dislocation (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.4 Glaucomas associated with disorders of the lens)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
