The pulmonary artery in patients with Marfan syndrome: a cross-sectional study

ABSTRACT.Purpose: To study ocular characteristics in 87 patients with verified Marfan syndrome (MFS) based on the Ghent criteria from 1996 (Ghent-1). Methods: The position of the lens was noted by observing the eye in different gaze directions in maximal mydriasis during slit lamp examination. Ectopia lentis (EL) was classified as subluxated (dislocation slightly backwards) or luxated (vertical or horizontal displacement). Corneal curvature, axial length (AL), corneal diameter, central corneal thickness, anterior chamber depth, lens thickness, condition of the iris, intraocular pressure, spherical equivalent and visual acuity were also investigated. Results: EL was found in 108 eyes (62.1%). Of the 68 phakic eyes with EL, 43 (63.2%) had subluxation. Mean AL was 24.80 AE 2.57 mm, and the AL was above 23.5 mm in 65.3%. Mean keratometry (K) in phakic eyes was 41.79 AE 1.70 diopters (D), and the K value was <41.5D in 46.8%. Iris hypoplasia was found in 3.4%. Myopia above 3D occurred in 38.4% of the phakic eyes. Mean binocular logMAR was 0.10 AE 0.32. Only five patients (5.7%) had a logMAR more than 0.5. These 5 patients had EL, and 4 of them were amblyopic. Conclusion: In this strictly defined MFS group fulfilling the Ghent-1 criteria, the prevalence of EL was 62.1%. In many cases, the dislocation of the lens was subtle. On average, the corneas were flattened and the globe length was increased. Only a few patients were visually impaired. Children with MFS should have a thorough follow up to avoid amblyopia.

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“…, , ; Lundby et al. , , ). Of the total phakic EL cases, we found minimal dislocation (subluxation) in as many as 63%.…”

Section: Discussionmentioning

confidence: 98%

Ocular findings in 87 adults with Ghent‐1 verified Marfan syndrome

Drolsum

Rand‐Hendriksen

Paus

et al. 2014

Acta Ophthalmologica

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“…The original study population consisted of 105 individuals with presumed MFS, and 87 patients were found to fulfil the Ghent‐1 criteria . We have previously presented the ocular findings of these 87 patients …”

Section: Methodsmentioning

confidence: 99%

“…The original study population consisted of 105 individuals with presumed MFS, and 87 patients were found to fulfil the Ghent-1 criteria. [14][15][16][17][18][19][20] We have previously presented the ocular findings of these 87 patients. 13 Since baseline, new methods for sequencing genetic analysis have been available, and after rescoring the results from the baseline examinations, 84 of the 105 participants were found to fulfil Ghent-1.…”

Section: Subjectsmentioning

confidence: 99%

Ten‐year reinvestigation of ocular manifestations in Marfan syndrome

Sandvik

Vanem

Rand‐Hendriksen

et al. 2018

Clinical Exper Ophthalmology

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Importance: Long-term follow-up of Marfan syndrome (MFS) patients. Background: Investigate changes in ocular features in MFS patients fulfilling the Ghent-2 criteria following a period of 10 years. Design: Repeated cross-sectional study with two observations. Participants: Eighty-four MFS patients were investigated in 2003-2004 (baseline). Forty-four of these patients (52%) were examined after 10 years. Methods: A comprehensive ocular examination performed at baseline and follow-up. Main Outcome Measures: Development or progression of ectopia lentis (EL).Results: At follow-up, mean age was 50.1 AE 11.9 years (range: 30-80 years), 74% were female and 70% of the patients were diagnosed with EL compared to 66% at baseline. Two patients (3 eyes) had developed EL over the decade, representing a 13% risk. Furthermore, one eye had progressed from a subtle tilt of the lens to dislocation. We found no significant change in the axial length (P = 0.96), the corneal curvature (P = 0.64) or the spherical equivalent (P = 0.23). Best corrected visual acuity was improved at follow-up (P = 0.02). There were 7% and 33% risks for development of retinal detachment and cataract between baseline and follow-up, respectively. Conclusions and Relevance: Our study indicates that even though EL typically occurs at an early stage in most MFS patients, there is still a risk of developing EL in adulthood. The risk of developing vision-threatening complications such as retinal detachment and cataract was much higher than in the normal population, but even so, the visual potential of the MFS patients was relatively good. K E Y W O R D Saxial length, corneal curvature, ectopia lentis, Marfan syndrome, visual acuity

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“…In normal subjects, published mean pulmonary diameter was from 24.0 ± 2.0 to 27.2 ± 3.0 mm. More than half of adult patients with MFS had pulmonary artery trunk more than 30 mm, though some (15 %) did not have ascending aortic dilatation [ 20 ]. Pulmonary artery dilatation usually occurs at the level of the root [ 5 ].…”

Section: Tricuspid Valve Pulmonary Arterymentioning

confidence: 99%