Year : 2017 | Volume
: 10 | Issue : 2 | Page : 118--119
Ocular manifestations of Marfan's syndrome
Department of Ocular inflammation and Immunology, Singapore National Eye Centre, Singapore Eye Research Institute, Singapore
Department of Ocular inflammation and Immunology, Singapore National Eye Centre, Singapore Eye Research Institute
|How to cite this article:|
Waduthantri S. Ocular manifestations of Marfan's syndrome.Med J DY Patil Univ 2017;10:118-119
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Waduthantri S. Ocular manifestations of Marfan's syndrome. Med J DY Patil Univ [serial online] 2017 [cited 2018 Jan 20 ];10:118-119
Available from: http://www.mjdrdypu.org/text.asp?2017/10/2/118/202118
Marfan's syndrome (MFS) is an autosomal dominant connective tissue disorder, caused by mutations in FBN1 gene on chromosome 15, which codes for the connective tissue protein fibrillin., Abnormalities in this protein often lead to a myriad of skeletal, cardiovascular, and ocular abnormalities.
The role of molecular testing in diagnosing MFS is limited due to the locus heterogeneity as well as the large size of the FBN1 gene and lack of family history in one-third of the cases  and a comprehensive clinical evaluation is fundamental in establishing a diagnosis. Around 41% of the patients with MFS are initially seen for an ocular pathology and diagnosed by an ophthalmologist. This emphasize the importance of alertness of the ophthalmologists when examining a patient with suspicious ocular findings. Early diagnosis and prompt management have significantly increased the life expectancy in these patients.
The most frequent ocular manifestation in MFS is ectopia lentis. It is found in 50–80% of the eyes with MFS. Patient may present with fluctuating blurred vision, monocular diplopia, or pain. Characteristically, lenses tend to be displaced in superior-temporal direction and often bilateral. Phacodonesis and/or iridodonesis may commonly present even in the absence of evident lens dislocation. Individuals with MFS develop cataracts several decades earlier compared to unaffected individuals. Surgical management of these cases with anterior lensectomy, limited vitrectomy, and iris/scleral-fixated intraocular lenses or aphakic correction are indicated where ametropia cannot be achieved by optical refraction or when the refractive status becomes unstable, in the presence of significant anisometropia, complete dislocation of the lens and lens-induced glaucoma or uveitis. Histological studies show abnormal fibrillin expression in lens capsule and ciliary epithelial surface at the attachment of the zonules.
The second most common clinical manifestation is myopia and is presented in around 40% of the cases with MFS. These patients develop lenticular myopia resulting from spherophakia and axial myopia resulting from globe elongation.
Patients may also present with astigmatism due to combined effect of corneal toricity and lens subluxation. The cornea is typically flat in these patients with a decreased K.
Anterior chamber angle in these patients is usually wide with immature trabecular meshwork and displacement of schlemm's canal., Sphincter and dilator muscle of the iris are usually underdeveloped causing eccentric pupil or mydriasis. Iris transillumination defects may present in some cases.
Incidence in strabismus in patients with MFS is increased compared to general population. Specifically, exotropia has been reported in up to 11.7% of patients with MFS, whereas esotropia has been found in 2.1% of patients. Abnormal afferent visual inputs to cortical centers caused by ectopia lentis and craniofacial abnormalities may contribute to the higher prevalence of strabismus in MFS.
Retinal detachment is a common ocular complication in these patients. The incidence of retinal detachment in MFS ranges from 5% to 11% and more commonly seen in younger adults. This risk further increases (38%) with the presence of ectopia lentis or following surgical extraction of the lens.,,
Around 35% of the patients develop glaucoma during their lifetime and primary open-angle glaucoma is the most common. Other causes of glaucoma in these patients are lens dislocation and surgery.
With the major ocular criterion ectopia lentis, at least two minor criteria: An abnormally flat cornea, increased axial length or hypoplasia of the ciliary muscle/iris causing decreased mydriasis must be present for consideration as ocular involvement. Patients must be closely followed up for complications such as glaucoma, retinal detachment, cataract, and amblyopia. Awareness and prompt recognition of the ocular manifestations of MFS by the general ophthalmologist, especially in the absence of family history and distinct musculoskeletal features, may not only enable the improvement and preservation of sight, but by relevant referrals to the internists and comprehensive management by a multidisciplinary team including a geneticist, orthopedics, and cardiologist, may also improve the morbidity and mortality of these patients.
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