Medical Journal of Dr. D.Y. Patil University

GUEST EDITORIAL
Year
: 2017  |  Volume : 10  |  Issue : 2  |  Page : 118--119

Ocular manifestations of Marfan's syndrome


Samanthila Waduthantri 
 Department of Ocular inflammation and Immunology, Singapore National Eye Centre, Singapore Eye Research Institute, Singapore

Correspondence Address:
Samanthila Waduthantri
Department of Ocular inflammation and Immunology, Singapore National Eye Centre, Singapore Eye Research Institute
Singapore




How to cite this article:
Waduthantri S. Ocular manifestations of Marfan's syndrome.Med J DY Patil Univ 2017;10:118-119


How to cite this URL:
Waduthantri S. Ocular manifestations of Marfan's syndrome. Med J DY Patil Univ [serial online] 2017 [cited 2017 Mar 24 ];10:118-119
Available from: http://www.mjdrdypu.org/text.asp?2017/10/2/118/202118


Full Text

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.[1],[2] 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 [3] 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.[4] 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.[5]

The most frequent ocular manifestation in MFS is ectopia lentis. It is found in 50–80% of the eyes with MFS.[6] 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.[6] 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.[7] Histological studies show abnormal fibrillin expression in lens capsule and ciliary epithelial surface at the attachment of the zonules.[8]

The second most common clinical manifestation is myopia and is presented in around 40% of the cases with MFS.[9] These patients develop lenticular myopia resulting from spherophakia and axial myopia resulting from globe elongation.[2]

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.[10]

Anterior chamber angle in these patients is usually wide with immature trabecular meshwork and displacement of schlemm's canal.[10],[11] Sphincter and dilator muscle of the iris are usually underdeveloped causing eccentric pupil or mydriasis. Iris transillumination defects may present in some cases.[10]

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.[12] 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.[9],[13],[14]

Around 35% of the patients develop glaucoma during their lifetime and primary open-angle glaucoma is the most common.[15] 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.[16] 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.

References

1Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 1990;323:935-9.
2Maumenee IH. The Marfan syndrome is caused by a point mutation in the fibrillin gene. Arch Ophthalmol 1992;110:472-3.
3Dean JCS, Bradshaw NE, Haites, NE, Hobson E, Miedzybrodzka ZH, Moore SJ, et al. The Scottish Clinical. Guidelines and integrated care pathways for Marfan Syndrome. Genisys, 2003. Available at: http://www.spitjudms.ro/_files/protocoale_terapeutice/dermatologie%20venero/marfan.pdf. [Last accessed 2016 Jul 25].
4Strider D, Moore T, Guarini J, Fallin B, Ivey J, Kron I. Marfan's syndrome: A family affair. J Vasc Nurs 1996;14:91-8.
5Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, Roman MJ, et al. Life expectancy in the Marfan syndrome. Am J Cardiol 1995;75:157-60.
6Rubin SE, Nelson LB. Ocular manifestations of autosomal dominant systemic conditions. Duane's Clinical Ophthalmology. Vol. 3, Ch 58. Philadelphia: Lippincott Williams and Wilkins; 2006.
7Miraldi Utz V, Coussa RG, Traboulsi EI. Surgical management of lens subluxation in Marfan syndrome. J AAPOS 2014;18:140-6.
8Mir S, Wheatley HM, Hussels IE, Whittum-Hudson JA, Traboulsi EI. A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome. Invest Ophthalmol Vis Sci 1998;39:84-93.
9Nemet AY, Assia EI, Apple DJ, Barequet IS. Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol 2006;51:561-75.
10Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 1981;79:684-733.
11Dvorak-Theobald G. Histologic eye findings in arachnodactyly. Am J Ophthalmol 1941;24:1132-7.
12Izquierdo NJ, Traboulsi EI, Enger C, Maumenee IH. Strabismus in the Marfan syndrome. Am J Ophthalmol 1994;117:632-5.
13Abboud EB. Retinal detachment surgery in Marfan's syndrome. Retina 1998;18:405-9.
14Remulla JF, Tolentino FI. Retinal detachment in Marfan's syndrome. Int Ophthalmol Clin 2001;41:235-40.
15Nahum Y, Spierer A. Ocular features of Marfan syndrome: Diagnosis and management. Isr Med Assoc J 2008;10:179-81.
16Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476-85.