key: cord-0932336-as1hmawj authors: Mohammadi, Massood; Tabatabaei, Seyed Mehdi title: Bilateral spontaneous filtering blebs date: 2020-09-30 journal: Am J Ophthalmol Case Rep DOI: 10.1016/j.ajoc.2020.100948 sha: 26858e6ad279a2ced20c441b1007edc4567a87f4 doc_id: 932336 cord_uid: as1hmawj PURPOSE: To report a case of bilateral spontaneous filtering bleb, scleral thinning, microspherophakia, and mild craniofacial dysmorphism. OBSERVATIONS: An 18-year-old girl was referred to our clinic for evaluation of bilateral spontaneous filtering blebs. Her corrected distance visual acuity (CDVA) was 20/400 in the right eye (RE) and 20/100 in the left eye (LE). She had superior scleral thinning, multicystic filtering bleb, and microspherophakia bilaterally. The IOP was 9 mmHg in the RE and 8 mmHg in the LE. A mild craniofacial dysmorphism including downward slanting of palpebral fissures and malar hypoplasia was present. There was no sign of corneal ectasia in tomography. Anterior segment optical coherence tomography revealed the filtering blebs as subconjunctival low reflective fluid-filled spaces. Due to severe scleral thinning un the RE we performed a tectonic scleral patch graft. 6 months after surgery the depth of the anterior chamber increased and CDVA improved. CONCLUSION AND IMPORTANCE: This case indicated that the formation of spontaneous filtering blebs may occur in a syndromic condition. In any case with this symptom, special attention should be paid to craniofacial features, sclera, crystalline lens, and IOP. Tectonic scleral patch graft could be a valuable option in selected patients. Filtering bleb is an aqueous filled subconjunctival space and routinely forms after trabeculectomy. It can also form after trauma or surgery, inadvertently (1) . Spontaneous filtering blebs are rare. They are reported in association with ocular abnormalities like Axenfeld syndrome, Terrien's marginal degeneration, microspherophakia, ectopia lentis, scleritis, and pellucid marginal corneal degeneration (2) (3) (4) (5) (6) (7) (8) . There are reports of spontaneous filtering blebs in systemic conditions like scleroderma and Traboulsi syndrome (9) (10) (11) (12) . In this study, we present a case with mild craniofacial dysmorphism, microspherophakia, and bilateral spontaneous filtering blebs. An 18-year-old lady was referred to our clinic because of decreased vision and spontaneous filtering blebs. Her uncorrected visual acuity was finger counting at 10 cm bilaterally. Corrected distance visual acuity (CDVA) with a manifest refraction of -16.00-5.00*180 was 20/400 in the right eye. The manifest refraction of the left eye was -16.50-6.50*165 and the CDVA was 20/100. She had a downward slanting of palpebral fissures and malar hypoplasia on inspection ( Figure 1 ). In slit-lamp examination, there was a superior multicystic bleb associated with scleral thinning bilaterally without any history of trauma or surgery (Figure 2 , 3). The IOP was 9 mmHg in the right eye and 8mmHg in the left eye on Goldman applanation tonometry. In funduscopy cup to disc ratio was 5/10 in both eyes without any other retinal or vascular abnormalities. On dilated examination the entire circumference of a globular crystalline lens was visible (Figure 4, 5) . Besides she mentioned a vague history of a spinal cyst that was under observation of an orthopedic surgeon. In physical examination, arachnodactyly, brachydactyly, joint or skin hyperextensibility, and heart murmurs were not noted. Also, Consultation with rheumatologists was done and any other rheumatologic abnormalities were not found. The patient underwent electrocardiography and echocardiography. There was no sign of aortic root dilation and mitral valve prolapse which are common findings in Marfan Syndrome and the electrocardiography was normal. Serum and urine amino acids assay revealed no abnormality. Concerning family history, our patient was the first in her lineage and the marriage of her parents was not consanguineous. Tomography (OCULUS GmbH, Wetzlar, Germany) showed Against the rule (ATR) astigmatism in the right eye and with the rule (WTR) astigmatism in the left eye ( Figure 6, 7) . There was no sign of corneal ectasia. Anterior segment optical coherence tomography (AS-OCT, CASIA SS-1000; TOMEY, Nagoya city, Aichi, Japan) was done. Microspherophakia and low reflective subconjunctival spaces were thoroughly visible. No fistula connecting the anterior chamber to the subconjunctival space was found (Figure 8, 9) . Anterior chamber depth based on AS-OCT was 1.23 mm and 1.39 mm in the right and left eye, respectively. Due to severe scleral thinning and the shallowness of the anterior chamber in the right eye, we considered a tectonic scleral patch graft. During surgery, severe scleral thinning was noted. A large patch graft of sclera around 120 degrees was sutured superiorly and the conjunctiva was fixed again on the limbus. Due to the COVID-19 pandemic, she didn't have regular follow up visits, unfortunately. But 6 months after surgery, we visited the patient again. CDVA of the right eye with a manifest refraction of -15.00-6.5*88 was 20/80. A well-positioned scleral patch graft was visible in the slit lamp examination and AS-OCT ( Figure 10, 11) . Also, the depth of the anterior chamber was increased to 2.46 mm (Figure 12 ). In this report, we presented a case with bilateral spontaneous filtering blebs, microspherophakia, and mild craniofacial dysmorphism. The first case of spontaneous filtering bleb was reported in Axenfeld syndrome (2) . As glaucoma is a serious complication in this condition (13) the postulation of Nemet et al.for bleb formation in their case was the rupture of abnormal tissue in the corneoscleral junction due to high IOP. Soon et al. reported four cases of Terrien's marginal degeneration with spontaneous rupture of Descemet's membrane who consequently developed corneal hydrops (3). In two cases intracorneal fluid J o u r n a l P r e -p r o o f extended peripherally and formed subconjunctival filtering bleb. A similar mechanism was described for a case of pellucid marginal degeneration and spontaneous filtering bleb (8) . The common pathology in cases of Terrien's and pellucid marginal degeneration is the abnormal tissue of the corneal periphery. Our patient didn't have any sign of axenfeld syndrome, pellucid, or Terrien's marginal degeneration. A case of spontaneous filtering bleb in a microspherophakic patient with mild craniofacial dysmorphism reported in 1991 by Pasquale et al (5) . Similar to our patient, their case didn't have physical signs of Marfan, Weill-Marchesani, or Ehlers-Danlos syndrome. The authors stated that the reason for conjunctival filtration is unclear. Similarly, our patient had mild facial dysmorphism, microspherophakia, scleral thinning, and bilateral superior spontaneous filtering blebs. Physical examination and laboratory experiments in our patient only revealed a mild craniofacial dysmorphism. Family history was unremarkable, proposing an autosomal recessive pattern. Albeit, we didn't perform genetic testing. Crystalline lens abnormality may be a spectrum from microspherophakia to subluxation in this syndrome. Aqueous humor crossing through the thin sclera is the presumed mechanism for bleb formation. In cases with scleral thinning reinforcing sclera with a patch graft may be an appropriate treatment option. A written consent form was taken from the patient. There was no funding or grant support for this study. Potential conflict of interest exists: We wish to draw the attention of the Editor to the following facts, which may be considered as potential conflicts of interest, and to significant financial contributions to this work: The nature of potential conflict of interest is described below: No conflict of interest exists. We wish to confirm that there are no known conflicts of interest associated with this publication and there has been no significant financial support for this work that could have influenced its outcome. Funding was received for this work. All of the sources of funding for the work described in this publication are acknowledged below: No funding was received for this work. J o u r n a l P r e -p r o o f We confirm that we have given due consideration to the protection of intellectual property associated with this work and that there are no impediments to publication, including the timing of publication, with respect to intellectual property. In so doing we confirm that we have followed the regulations of our institutions concerning intellectual property. We further confirm that any aspect of the work covered in this manuscript that has involved human patients has been conducted with the ethical approval of all relevant bodies and that such approvals are acknowledged within the manuscript. IRB approval was obtained (required for studies and series of 3 or more cases) Written consent to publish potentially identifying information, such as details or the case and photographs, was obtained from the patient(s) or their legal guardian(s). The International Committee of Medical Journal Editors (ICMJE) recommends that authorship be based on the following four criteria: 1. Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; AND 2. Drafting the work or revising it critically for important intellectual content; AND 3. Final approval of the version to be published; AND 4. Agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All those designated as authors should meet all four criteria for authorship, and all who meet the four criteria should be identified as authors. For more information on authorship, please see http://www.icmje.org/recommendations/browse/roles-andresponsibilities/defining-the-role-of-authors-and-contributors.html#two. All listed authors meet the ICMJE criteria. We attest that all authors contributed significantly to the creation of this manuscript, each having fulfilled criteria as established by the ICMJE. One or more listed authors do(es) not meet the ICMJE criteria. J o u r n a l P r e -p r o o f UBM study in spontaneous bleb formation and blebitis after cataract surgery in Werner syndrome Spontaneous filtering blebs in Axenfeld syndrome Corneal hydrops in Terrien's marginal degeneration Two cases of spontaneous filtering blebs, one idiopathic and one associated with Terrien marginal degeneration Spontaneous filtration blebs in a patient with microspherophakia Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature Spontaneous filtration bleb as a consequence of scleritis Spontaneous bleb formation in a presumed pellucid marginal corneal degeneration with acute hydrops Spontaneous bleb formation A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance The following authors have no financial disclosures: Mohammadi M and Tabatabaei SM All authors attest that they meet the current ICMJE criteria for authorshipWe believe these individuals should be listed as authors because:Massood Mohammadi, because he designed the study and was involved in revising and final approval of the manuscript.Seyed Mehdi Tabatabaei, because he had role in designing the study, data acquisition, following up the patient and writing the manuscript.We confirm that the manuscript has been read and approved by all named authors.We confirm that the order of authors listed in the manuscript has been approved by all named authors. 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