Recurrent spontaneous scleral rupture in Marfan's syndrome

Abstract

The ocular manifestations of Marfan's syndrome (MS) range from ectopia lentis, microspherophakia, myopia, glaucoma and retinal detachment. Spontaneous scleral rupture is a rare complication and recurrent scleral perforation is extremely rare. We report a rare case of a 26-year-old male with MS who had sequential recurrent spontaneous scleral rupture which required surgical repair. He suffered from a similar problem 4 years later in both eyes in a different location, with overlying thin cystic blebs and hypotony maculopathy. Surgical repair with preserved scleral donor patch graft and conjunctival autograft in one eye, and conjunctival advancement in the other eye was performed. This helped stabilise the eyes, and resulted in complete visual recovery in both eyes.

Occult Spontaneous Ocular Perforation Presenting as Conjunctival Chemosis in a Patient with Marfan’s Syndrome

“…Scleral thinning is a common ocular feature in MFS patients and is attributed to the presence of abnormal fibrillin between the collagen lamellae of the sclera[1]. Scleral perforation in MFS patients has been described following trabeculectomy and scleral buckling procedures [2, 3, 4, 5, 6, 7]. Moreover, scleral wound dehiscence can be encountered several years after lensectomy for ectopia lentis in MFS [7].…”

“…Moreover, scleral wound dehiscence can be encountered several years after lensectomy for ectopia lentis in MFS [7]. Nevertheless, in these cases, patients presented with redness and tearing [6, 7], decreased vision [3, 4, 5], or progressive myopia [5] while all of them showed signs of ocular hypotony such as a low IOP, shallow AC, pupil distortion, or hypotony maculopathy. Our patient presented with conjunctival chemosis as the first sign of occult spontaneous ocular perforation.…”

“…Scleral perforation in MFS has been treated with a scleral patch graft or suturing [3, 4, 6]. Alternatively, autologous conjunctival epithelium transplantation combined with a scleral patch[7] and the combination of scleral homograft and amniotic membrane transplant[2] have also been proposed with encouraging results.…”

“…Mutations in the fibrillin-1 gene ( FBN1 ) account for the ocular manifestations of MFS. Scleral thinning is also frequently observed in MFS though rarely complicated by scleral perforation[2, 3, 4, 5, 6, 7]. To our knowledge, this is the first report of conjunctival chemosis as the presenting sign of an occult spontaneous ocular perforation in a patient with MFS.…”

Management strategies of ocular abnormalities in patients with marfan syndrome: Current perspective

“…Fibrillin is distributed throughout ocular tissues, so Marfan syndrome can affect different parts of the eye [Table 1]. [56]…”