Case of an Inadvertent Filtering Bleb in Marfan Syndrome Resulting in Clinical Hypotony

Clinical Correspondence Case of an Inadvertent Filtering Bleb in Marfan Syndrome Resulting in Clinical Hypotony J. Christian Berry, MD, Neal Rangu, BA, Ben J. Harvey, MD, James C. O’Brien, MD M arfan syndrome is an inherited autosomal dominant disorder of connective tissue, characterized by systemic findings related to defects in the fibrillin gene.1,2 Musculoskeletal, cardiovascular, and ocular abnormalities are common features. Fibrillin is found in multiple structures within the eye, including the corneal basement membrane, zonules, and the sclera.1,2 Thus, a patient with Marfan syndrome can present with abnormalities or complications related to these structures, including ectopia lentis, refractive error (from increased axial length and corneal changes), scleral thinning, and retinal detachment.1,2 We report a case of clinical hypotony in a patient with Marfan syndrome due to an inadvertent filtering bleb from a scleral wound dehiscence after cataract extraction. A 24-year-old man was referred for bilateral blurry vision and trouble focusing, notably worse in his left eye. He denied any significant headaches or pulsatile tinnitus. The patient’s medical history was notable for Marfan syndrome. His surgical history included an aortic root replacement and an intracapsular lens extraction for ectopia lentis in childhood. Before presenting to our clinic, other providers had evaluated the patient and suspected optic disc edema bilaterally, which was asymmetrically worse in the left eye. This prompted a workup for possible papilledema from intracranial hypertension vs atypical optic neuritis. The laboratory workup (rapid plasma reagin, HIV antibody, and angiotensin-converting enzyme level) and MRI findings were unremarkable, and lumbar puncture revealed a borderline opening pressure of 23 cm of water. The patient was started on oral acetazolamide for presumptive papilledema from idiopathic intracranial hypertension, but unfortunately continued to experience declining peripheral vision. Upon presentation to our clinic, his ocular examination revealed best-corrected visual acuity of 20/25 in the right eye (OD) and 20/50 in the left eye (OS). Dean McGee Eye Institute (JCB, BJH, JCOB) and College of Medicine (NR), University of Oklahoma, Oklahoma City, Oklahoma. Dean McGee Eye Institute, who employs J. C. Berry, B. J. Harvey, and J. C. O’Brien, receives funding from the Research to Prevent Blindness, although no funding was used directly in the creation of this manuscript. The authors report no conflicts of interest. Address correspondence to Jon C. Berry, MD, Dean A. McGee Eye Institute, University of Oklahoma, 608 Stanton L. Young Boulevard, Oklahoma City, OK 73104; E-mail: [e-mail] Berry et al: J Neuro-Ophthalmol 2024; 44: e379-e380 Intraocular pressures were 10 mm Hg in the right eye and 5 mm Hg in the left eye. Before treatment with acetazolamide, the patient’s intraocular pressures were 15 mm Hg in the right eye and 8 mm Hg in the left eye, per his referral records. Automated visual field testing showed superior and inferior arcuate defects in both eyes, with progressively worsening constriction in the left eye over time. Slit-lamp examination revealed low-lying blebs superiorly with mild corectopia and aphakia in both eyes (Fig. 1A, B). Gonioscopic evaluation revealed an angle open to ciliary body band, with peripheral anterior synechiae and iridocorneal touch superiorly in the left eye. Fundus examination disclosed mild nasal optic disc elevation in the right eye and severe circumferential optic disc edema with mild horizontal choroidal folds in the left eye (Fig. 2A), suggestive of hypotony maculopathy. Given this constellation of findings, we suspected clinical hypotony due to an inadvertent filtering bleb from a scleral wound from prior intracapsular lens extraction, compounded by the use of acetazolamide for presumed papilledema. Hypotony can alter translaminar pressure gradients and cause problems with axoplasmic flow, resulting in optic disk edema. This finding in our patient was initially mistaken for papilledema due to an elevated intracranial pressure. Furthermore, ocular hypotony also causes changes in the scleral wall, resulting in folds in the retina and choroid seen with hypotony maculopathy. When an eye develops clinical hypotony with these findings, retinal dysfunction can result in a degradation in a patient’s central and peripheral vision, which was demonstrated in this case. Per referral records, our patient’s visual acuity had declined in the left eye from 20/40 to 20/80 immediately before surgical intervention. Acetazolamide was discontinued, and the patient’s intraocular pressure increased to 18 mm Hg in the right eye and 7 mm Hg in the left eye. Given the findings of clinical hypotony and his worsening visual acuity over time, the patient was taken to the operating room for a wound revision of the left eye, where a leaking sclerostomy was found 2 mm posterior to the limbus. This was sutured and covered with a corneal patch graft. Postoperatively, the patient’s intraocular pressure normalized to 11 mm Hg in the left eye and the nerve edema resolved in the left eye (Fig. 2B). The appearance of the right optic disc remained unchanged. The patient’s visual e379 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Clinical Correspondence FIG. 1. Slit-lamp photographs of the left eye at presentation, illustrating corectopia and aphakia (A) and superior filtering bleb (B). FIG. 2. Optic nerve photographs of the left eye at presentation (A) and after surgical wound revision (B). acuity improved to 20/60 and formal visual field testing also improved after surgical intervention. Marfan syndrome can cause numerous ocular issues prompting surgical intervention, especially in patients with ectopia lentis or a retinal detachment. Several cases of complications from either scleral thinning or wound dehiscence have been reported, including from scleral buckle erosion, prior vitrectomy or lensectomy, or spontaneously.3–5 Our patient had been worked up and treated for idiopathic intracranial hypertension initially, given suspected bilateral disc edema. However, given the entire clinical image and ocular examination in our clinic, his disc edema was found to be secondary to a filtering bleb from delayed scleral wound dehiscence that developed years after intracapsular lens extraction, illustrating scleral pathology and abnormal wound healing in this patient population. Therefore, a high degree of suspicion for scleral pathology is appropriate when evaluating patients with Marfan Syndrome—particularly in patients with a surgical history. Thus, when surgical intervention is required for these patients, we believe that diligent care and exceptional attention must be taken with wound closure because these patients are prone to wound dehiscence, even years after prior surgery. e380 STATEMENT OF AUTHORSHIP Conception and design: J. C. Berry, N. Rangu, B. J. Harvey, J. C. O’Brien; Acquisition of data: J. C. Berry, N. Rangu, B. J. Harvey, J. C. O’Brien; Analysis and interpretation of data: J. C. Berry, N. Rangu, B. J. Harvey, J. C. O’Brien. Drafting the manuscript: J. C. Berry, N. Rangu, B. J. Harvey, J. C. O’Brien; Revising the manuscript for intellectual content: J. C. Berry, B. J. Harvey, J. C. O’Brien. Final approval of the completed manuscript: J. C. Berry, N. Rangu, B. J. Harvey, J. C. O’Brien. REFERENCES 1. Nemet AY, Assia EI, Apple DJ, Barequet IS. Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol. 2006;51:561–575. 2. Esfandiari H, Ansari S, Mohammad-Rabei H, Mets MB. Management strategies of ocular abnormalities in patients with Marfan syndrome: current perspective. J Ophthalmic Vis Res. 2019;14:71–77. 3. Deramo VA, Haupert CL, Fekrat S, Postel EA. Hypotony caused by scleral buckle erosion in Marfan syndrome. Am J Ophthalmol. 2001;132:429–431. 4. Sridhar J, Chang JS, Aziz HA, Erickson BP. Delayed sclerotomy wound dehiscence after lensectomy and vitrectomy in Marfan syndrome. Oman J Ophthalmol. 2015;8:198–199. 5. Turaga K, Senthil S, Jalali S. Recurrent spontaneous scleral rupture in Marfan’s syndrome. BMJ Case Rep. 2016;2016:bcr2016214764. Berry et al: J Neuro-Ophthalmol 2024; 44: e379-e380 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited.