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

Voulgari, Nafsika; Giacuzzo, Clarice; Schalenbourg, Ann; Kymionis, George D.

doi:10.1159/000503440

Cited by 3 publications

(2 citation statements)

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“…Abnormal fibrillin-1 results in a thin sclera in Marfan patients. A number of cases of spontaneous scleral rupture have been published 5 9. There have also been reports of erosion of the scleral buckle leading to hypotony in Marfan syndrome 10 11.…”

Section: Discussionmentioning

confidence: 99%

Late onset sclerotomy dehiscence in a patient with Marfan syndrome presenting as recurrent episodes of raised intraocular pressure

2022

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A man in his 50s presented to the eye emergency department on three separate occasions complaining of blurred vision and discomfort in the left eye. He had a history of Marfan syndrome and had undergone bilateral 20-gauge (G) pars plana vitrectomy and lensectomy 20 years prior for ectopia lentis. On examination he had epithelial corneal oedema, raised intraocular pressure >40 mm Hg and conjunctival chemosis, which later appeared as a bleb-like conjunctival elevation. Acute treatment with oral acetazolamide and topical ocular hypotensive agents produced a marked reduction in intraocular pressure to 2–4 mm Hg. A presumed diagnosis of a leaking scleral wound was made. He underwent scleral exploration under general anaesthesia and a leaking sclerotomy was uncovered. The defect was repaired successfully using a scleral patch graft. Late dehiscence of a sclerotomy has been reported rarely in patients with Marfan syndrome. This is the first reported case to present atypically with intermittent episodes of raised intraocular pressure rather than with hypotony.

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Section: Discussionmentioning

confidence: 99%

Late onset sclerotomy dehiscence in a patient with Marfan syndrome presenting as recurrent episodes of raised intraocular pressure

2022

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“…Spontaneous filtering blebs are rare occurrences and have been reported in association with Terrien marginal degeneration, pellucid marginal degeneration, Axenfeld-Rieger syndrome, Traboulsi syndrome, and other craniofacial dysmorphism, scleroderma, heritable connective tissue disorders such as Marfan and Ehlers-Danlos syndromes, after remote trauma or intraocular surgery, congenital coloboma, and underlying inflammatory or autoimmune diseases such as scleritis. 1–11 This patient had no ocular inflammation and no evidence of infection. There were no other pertinent ocular findings, and she has no known systemic or developmental diseases.…”

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confidence: 91%

June consultation #3

Piltz-Seymour

Halfpenny

2021

J Cataract Refract Surg

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The inferior scleral thinning is concerning and warrants a systemic workup to rule out autoimmune (ie, rheumatoid arthritis and systemic lupus erythematous) and infectious etiologies for scleritis. Laboratory workup should include complete blood count (CBC), erythrocyte sedimentation rate (ESR), rapid plasma reagin (RPR), fluorescent treponemal antibody absorption test (FTA-abs), antinuclear antibodies (ANAs), rheumatoid factor (RF), C3, C4, cANCA (antineutrophil cytoplasmic antibodies), pANCA, and C-reactive protein (CRP). The lack of pain is reassuring but there are cases of necrotizing scleritis without inflammation due to rheumatoid arthritis that may be missed. It is helpful to be aware of scleritis as there are more risks with any surgical intervention, and immunosuppression may be needed.Even if the etiology of glaucoma is not known, we must now control it. The inferior site may likely be left alone as the iris incarceration can serve as a lifetime patch to guard the site. If this thin area is of concern, we suggest reinforcing the sclera with a corneal patch graft (sclera or pericardium can be used but will be more cosmetically noticeable). We would avoid angle surgery, which can further compromise the blood-aqueous barrier and lead to worsening inflammation. We have found tube shunts to be the most predictable option. One may consider a superotemporal Ahmed FP-7 device (New World Medical, Inc.) for immediate IOP control; however, given the patient's young age, we believe small, nonvalved implants work better in long-term; we would consider an Ahmed ClearPath 250 (New World Medical, Inc.) device (Figure 5) or a 245 mm 2 Molteno (Nova Eye Medical, Inc.) or BAERVELDT (Johnson & Johnson Vision) implant, with a good number of fenestrations to provide immediate (but temporary) IOP control. We suggest tying off the tube shunt with a 7-0 Prolene suture with a 4-0 nylon suture ripcord in the lumen of the tube, tucked in the inferotemporal subconjunctival space. This would provide immediate IOP relief while allowing for complete control of the IOP if it starts to increase. The ripcord can be removed later in clinic, when needed.Although not the situation in this case, we would like to emphasize that theoretically, perilimbal thinning may reflect enhanced uveoscleral outflow through thin sclera. To the authors' knowledge, the concept of enhanced uveoscleral outflow through thin sclera as the source of a spontaneous perilimbal bleb has not been previously reported.

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Anterior scleral thickness in Marfan syndrome: A quantitative analysis

Alluyn,

Dequeker,

Dhaese

et al. 2024

Acta Ophthalmologica

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PurposeTo investigate the anterior scleral thickness (AST) in patients with Marfan syndrome (MFS).MethodsA prospective, cross‐sectional study was conducted at the Department of Ophthalmology, Ghent University Hospital, Ghent, including patients with a genetically confirmed clinical diagnosis of MFS and age‐, gender‐ and axial length‐matched controls. Subjects with known corneal, conjunctival or scleral pathology and a history of ocular surgery, including pars plana vitrectomy, recent contact lens use or high‐grade astigmatism were excluded. Subjects underwent non‐cycloplegic autorefraction, Scheimpflug‐based corneal tomography, axial length measurement and spectral‐domain optical coherence tomography (OCT). AST was manually measured at 1 mm (AST1), 2 mm (AST2) and 3 mm (AST3) from the scleral spur, temporally and nasally.ResultsA total of 56 subjects (28 subjects in the MFS group and 28 matched subjects in the control group) were included in this study. In patients with MFS, AST was significantly reduced compared to matched controls, both overall and at every analysed measuring point in the nasal and temporal areas (p < 0.001). Central corneal thickness (CCT) and mean keratometry (Kmean) values were significantly lower in patients with MFS (p < 0.05). A positive correlation was found between nasal AST and CCT in patients with MFS. No correlation was found between AST and Kmean or between AST and axial length. In patients with MFS with ectopia lentis, compared to those without, temporal AST3 was significantly lower (p < 0.05). AST was significantly lower in patients with MFS harbouring a variant predicted to cause haploinsufficiency compared to those with a variant expected to lead to a dominant negative effect for both nasal and temporal measurements.ConclusionBased on anterior segment OCT measurements, AST of patients with MFS is significantly lower compared to matched controls.

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

Cited by 3 publications

References 5 publications

Late onset sclerotomy dehiscence in a patient with Marfan syndrome presenting as recurrent episodes of raised intraocular pressure

Late onset sclerotomy dehiscence in a patient with Marfan syndrome presenting as recurrent episodes of raised intraocular pressure

June consultation #3

Anterior scleral thickness in Marfan syndrome: A quantitative analysis

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