Ocular morbidity in Marfan syndrome: a nationwide epidemiological study

Abstract

BackgroundOphthalmic complications are profound in Marfan syndrome (MFS). However, the overall burden is not well described. Our purpose was to evaluate the ocular morbidity in a nationwide perspective.MethodsWe identified the ocular morbidity in patients with MFS (n=407) by use of Danish national healthcare registers, using number and timing of hospital contacts related to ophthalmic diagnoses, to ophthalmic surgery and to prescriptions for ophthalmic medication. An age-matched and gender-matched background population (n=40 700) was used as comparator.ResultsAmong MFS, 56% (226/407) of the patients had at least one registration of an ophthalmic diagnosis as inpatient or outpatient during the study period (HR of 8.0 (95% CI 7.0 to 9.2)). Seven out of 11 main groups of diagnoses were affected, including ‘Lens’, ‘Choroid and retina’, ‘Ocular muscles, binocular movement, accommodation and refraction’, ‘Glaucoma’, Visual disturbances and blindness’, ‘Vitreous body and globe’, and ‘Sclera, cornea, iris and ciliary body’. The number of surgical procedures as well as the use of ophthalmic medication in patients with MFS was significantly increased.ConclusionThis nationwide epidemiological study of ocular morbidity in MFS demonstrates a profound burden and emphasises the need for thorough and experienced ophthalmological surveillance.

Clinical and genetic findings in Chinese families with congenital ectopia lentis

“…Unlike isolated lens dislocation with only ocular abnormalities, Marfan syndrome is accompanied by abnormalities of the cardiovascular and skeletal systems, including pectus carinatum or pectus excavatum deformities, positive wrist and thumb signs, and scoliosis (Loeys et al, 2010). A statistic shows that the incidence of ocular morbidity in patients with Marfan syndrome is approximately 56%, primarily including lens heterotopia, choroid and retinal, refractive, and other abnormalities (Kjeldsen et al, 2022). Here, two recurrent FBN1 mutations (c.1543T>C (p.C515R) and c.2687G>A (p.C896Y)) were detected in two families with Marfan syndrome and EL.…”

What Should We Pay More Attention to Marfan Syndrome Expecting Ectopia Lentis: Incidence and Risk Factors of Retinal Manifestations

“…Myopia is the most prevalent ocular disorder in MFS patients that develops rapidly in early childhood. Previous studies elucidated that the prevalence of myopia in MFS (34~44%) is higher than in the general population (4.8%) [ 5 , 7 ]. In our cohort, the prevalence of pathological myopia was up to 47%.…”

“…Vitreous degeneration and vitreous hemorrhage were also significantly more common in MFS compared with the controls. The increased AL in patients with MFS with a dislocated lens increases the risk of having vitreous degeneration or hemorrhage [ 7 ].…”

“…The posterior segment ocular abnormalities include vitreous liquefaction, lattice degenerations, posterior staphyloma, retinal degeneration, retinal tears and retinal detachment (RD), all of which may worsen the quality of vision [ 4 , 5 , 6 ]. Previous studies have demonstrated that the incidence of posterior segment lesions is higher than in the general population, occurring up to 18% of eyes of MFS patients, and the incidence is even higher (70%) of MFS patients with subluxated lens [ 7 ]. RD is the most serious ocular manifestation of MFS, with an incidence ranging from 5% to 11%; it increases to 8% to 38% in the presence of lens dislocation [ 8 ].…”

Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome

“…Marfan syndrome (MFS) is a relatively rare autosomal dominant genetic disorder, impacting approximately 1 in 5000 individuals. 1 , 2 Predominantly, around 97% of MFS cases arise from mutations in the pathogenic gene f ibrillin-1 ( ( FBN1 ) (Online Mendelian Inheritance in Man #134797), revealing a spectrum of over 3000 reported mutations, each linked to a distinct array of phenotypes. 3 Consequently, the phenotypes of MFS are diverse, ranging from the common occurrences like ectopia lentis (EL), aortic dilation, and skeletal abnormalities to rarer instances of posterior staphyloma (PS), retinal detachment (RD), and maculopathy.…”