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Marfan Syndrome & The Eye

by | Mar 1, 2022 | Manuscripts | 0 comments

Ashish Gangwar, Bachelor in Optometry

Optometrist, Dr. Shroff’s Charity Eye Hospital, New Delhi, India

 

Marfan Syndrome is a dominantly inherited disorder of connective tissue caused by mutations in the gene encoding fibrillin-1. (1) Connective tissue holds all parts of the body together and so Marfan syndrome affects the heart, blood vessels, bones, joints, and eyes.

Ocular problems are commonly seen in people with Marfan syndrome. Almost 50% of patients are diagnosed with Marfan syndrome primarily while investigating the ophthalmic complaints with which they present. (2) Our eyes consist of radial fibers which connect the ciliary body to the crystalline lens. Zonules consist primarily of FBN-1 whose further mutation leads to ectopia lentis. With ectopia lentis eye’s lens becomes dislocated and visual acuity worsens. Ectopia lentis (fig 1) is the hallmark of Marfan syndrome. Other Ocular symptoms include thinning or flattening of cornea, glaucoma, cataract, strabismus, and retinal detachment.

Ectopia Lentis:

The incidence of ectopia lentis in Marfan syndrome varies from 30% to 72%.  Subluxation is mainly towards the superior and temporal directions. (3) This type of abnormality is mainly presented with blurred vision, fluctuating vision, monocular diplopia in case of subluxated lens. Eyeglasses are the primary step to correct blurred vision but prescribing glasses in subluxated lenses is challenging. The practitioner should decide whether the phakic or the aphakic part should be corrected depending upon the severity of the subluxation of the lens. Lens extraction with artificial IOL replacement is another option to correct ectopia lentis. (4)

Refractive Error:

Due to long axial length myopia is common in Marfan syndrome. The prevalence of myopia in Marfan syndrome is more than in the general population. (5) Astigmatism is also present due to flattening of cornea and lens subluxation. Refractive error can be corrected with the help of glasses or contact lenses. Refractive surgery is not recommended as the cornea is already flat, it may make the lens dislocation worse and can also interfere with IOL calculation.

Retinal Detachment (RD):

The incidence of retinal detachment in Marfan syndrome ranges from 5% to 25% (6). Myopic degeneration, lattice degeneration, vitreous traction and retinal tear are commonly seen in patients having Marfan syndrome. (7) Surgical intervention should be performed as soon as possible. Surgery in Marfan syndrome is challenging due to miotic pupil, thin sclera, multiple breaks. RD in patients with Marfan syndrome tends to occur bilaterally. (8) Proper examination of fellow eyes is required.

Cataract:

Cataract tends to occur at a younger age in Marfan syndrome. Posterior subcapsular cataract and globular lens opacities are commonly seen. (9) Cataract surgery should be performed with proper care. There is post-surgical complication like vitreous loss, rupture of zonules, iris prolapse, postoperative hyphema. (10)

Glaucoma:

The most common type of glaucoma in Marfan syndrome is primary open angle glaucoma. The possible mechanism is the abnormal insertion of ciliary muscle into trabecular meshwork and displacement of Schlemm’s canal. (11) Treatment is anti-glaucoma medication. Surgical intervention is done according to the position of the lens.

So, we can conclude optometrists and ophthalmologists play a vital role in detecting and managing Marfan’s syndrome. The diagnosis and management of Marfan syndrome are very challenging so proper eye examination (vision, refraction, IOP, anterior and posterior examination) should be done by the practitioner. Patients should be advised for immediate consultation if they experience floaters, haloes, or immediate loss of vision. With the help of regular checkups patient’s visual function can be prevented.

 

References:

  1. Elias I. Traboulsi A Compendium of Inherited Disorders and the Eye, Oxford University Press Nov. 8, 2015
  2. Strider D, Moore T, Guarini J, Fallin B, Ivey J, Kron I. Marfan’s Syndrome: A Family Affair. 1997:91–98.
  3. Fuchs J, Rosenberg T. Congenital ectopia lentis. A Danish national survey. Acta Ophthalmol Scand. 1998;76:20–26.
  4. Vadala P, Capozzi P, Fortunato M, DeVirgiliis E, Vadala F. Intraocular lens implantation in Marfan’s syndrome. J Pediatr Ophthalmol Strabismus. 2000;37:206–208.
  5. Nemet AY, Assia EI, Apple DJ, Barequet IS. Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol. 2006;51:561–575.
  6. Chandra A, Ekwalla V, Child A, Charteris D. Prevalence of ectopia lentis and retinal detachment in Marfan syndrome. Acta Ophthalmol. 2014;92:e82–e83.
  7. Rahmani S, Lyon AT, Fawzi AA, Maumenee IH, Mets MB. Retinal disease in Marfan syndrome: From the Marfan Eye Consortium of Chicago. Ophthalmic Surg Lasers Imaging Retina. 2015;46:936–941.
  8. Nahum Y, Spierer A. Ocular features of Marfan syndrome: Diagnosis and management. Isr Med Assoc J. 2008;10:179–181.
  9. Pyeritz RE. The Marfan syndrome. Ann Rev Med. 2000;51:481–510.
  10. Lim AY, Song JS, Kim EK, Jang SY, Chung TY, Choi SH, et al. Clinical characteristics of Marfan syndrome in Korea. Korean Circ J. 2016;46:841–845.
  11. Burian HM, Allen L. Histologic study of the chamber angel of patients with Marfan’s syndrome. A discussion of the cases of Theobald, Reeh and Lehman, and Sadi de Buen and Velazquez. Arch Ophthalmol. 1961;65:323–333.

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