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Purpose: This case report delineates the intricacies and challenges encountered in cataract surgery in Ehlers-Danlos syndrome type VI presenting with advanced Keratoglobus (KG), severe cataract and brittle cornea. Observations: Despite meticulous planning and intraoperative precautions, including phacoemulsification with reduced intraocular pressure (low bottle height), the patient experienced corneal ruptures necessitating a shift to Extra Capsular Cataract Extraction (ECCE). Postoperative management involved corneal suturing and vigilant follow-up. Conclusions and Importance: Cataract surgery in patients with brittle cornea poses significant challenges due to extreme corneal fragility. Exhaustive pre-operative assessment, careful intraoperative techniques, and vigilant postoperative care are paramount for successful outcomes in these complex cases.

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Keratoglobus is a rare subset of noninflammatory corneal ectasia, which is a group of disorders characterized by corneal thinning, projection, and scarring. Patients with keratoglobus commonly present with poor vision. A case of advanced keratoglobus was managed by a modified phacoemulsification surgical technique using endoillumination and capsular staining with trypan blue. In this case, we present a 54-year-old man with keratoglobus. In January 2023, a modified phacoemulsification surgical technique using endoillumination was described with a video in a patient with bilateral corneal opacification, neovascularization, significant peripheral thinning, and moderate to severe corneal opacity in which cataract surgery had to be performed alone without considering penetrating keratoplasty. Postoperatively, the patient was doing well with no leaks. We may conclude that this method allows for better visualization during surgery and decreases the risk of intraoperative complications due to poor visualization in patients with severe corneal opacity.

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Introduction: We present a case of a patient with osteogenesis imperfecta (OI) and keratoglobus (KG) who had a near-total rupture of Descemet's membrane followed by spontaneous corneal clearing. This case is unique in that it demonstrates the potentially excellent outcome of conservative treatment for Descemet's rupture in patients with KG and illustrates the impressive migratory potential of healthy endothelial cells. Case Presentation: An 11-year-old girl with OI and KG who had rupture and near-total detachment of Descemet's membrane presented for evaluation. This was managed conservatively and resulted in the eventual spontaneous clearing of the cornea. A similar process happened in the fellow eye some years later. Given the result of conservative management originally, the patient was once again treated conservatively, with significant improvement in corneal edema and visual acuity. Conclusion: Given the size of the ruptures, this case highlights the dynamic nature of the corneal endothelium and provides an extreme example of the migratory potential of corneal endothelial cells.

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It concerns three siblings (two 28 year old twin boys and a 25 year old woman) who presented a previous history of rupture of eyeball in one eye and very poor vision in the other. At the first ophthalmoscopic and instrumental evaluation, three patients presented with bluish sclera and keratoglobus in the intact eye. A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene that led to the diagnosis of Brittle Cornea Syndrome (BCS), a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. To preserve the only intact eye from possible breakage, the three siblings were trained in using protective measures (polycarbonate goggles etc.) to carry out close monitoring of symptoms and were asked to continue with follow-up visits for ocular and systemic diseases associated with BCS. Given the poor best corrected visual acuity achievable with glasses and contact lenses, penetrating keratoplasty was performed, achieving good visual acuity maintained in the 2-year follow-up in two of the three patients. Knowledge of this pathology and its clinical manifestations is essential for early diagnosis and correct management of this rare but very debilitating pathology. To our knowledge, this is the first case series of BCS reported in an Albanian population.

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BACKGROUND: A report of a Brittle cornea syndrome (BCS) case with bluish scleral discoloration, keratoglobus, and myopia based on multimodal imaging modalities including in vivo confocal microscopy (IVCM), high-definition optical coherence tomography (HD-OCT) and scheimpflug corneal densitometry analysis. CASE PRESENTATION: A 36-year-old Chinese female patient presented with significant bluish discoloration of the sclera in both eyes, extreme corneal thinning with increased corneal curvature, increased central corneal densitometry, and nystagmus. She also had scoliosis, severe osteoporosis, and thyroid disease. CONCLUSIONS: Timely diagnosis, early detection, and detailed follow-up are essential for BCS. There has been no report of a BCS evaluation performed by IVCM and corneal densitometry methods thus far in the literature. Furthermore, multimodal imaging can offer a more comprehensive view of BCS and contribute to a deeper understanding of the disease. Interestingly, this is a rare case of BCS in an adult with good vision, an intact cornea, and nystagmus.

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We reported a case of simultaneous vitrectomy and sclerokeratoplasty (SKP) performed for keratoglobus with extensive corneal rupture and intraocular hemorrhage caused by trauma. A 73-year-old woman was treated for keratoglobus and glaucoma. She was punched in both eyes, her right eye showed corneal rupture and the left eye showed prolapse of the ocular contents due to eyeball rupture. She immediately underwent corneal sutures in the right eye and resection of the prolapsed ocular contents in the left eye at a nearby ophthalmological clinic. Three days after the injury, the patient was referred to our clinic for vision recovery. The best corrected visual acuity of the right eye was measured by counting fingers. Her right eye presented severe corneal edema with a sutured corneal wound in the upper periphery, which was positive in the Seidel test. B-mode ultrasound revealed choroidal detachment and subchoroidal hemorrhage. Fourteen days after injury, simultaneous corneal suture and posterior sclerotomy were performed in the right eye, but corneal fragility and corneal opacity were prominent, and B-mode examination revealed prolonged vitreous hemorrhage and retinal detachment. Twenty-one days after injury, we performed simultaneous SKP and 25-G pars plana vitrectomy (PPV). In this procedure, we initially performed SKP followed by 25-G PPV without a keratoprosthesis or endoscope. The visibility of the fundus through the corneoscleral graft was good during vitrectomy. Three months after surgery, her corrected visual acuity improved to 10/1,000. Although there was mild corneal stromal edema and khodadoust line, there were no obvious fundus complications. Simultaneous SKP and PPV for keratoglobus with extensive corneal rupture and vitreous diseases may be a good option.

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PURPOSE: Alike keratoconus (KC), keratoglobus (KG) and pellucid marginal degeneration (PMD) belong to ectatic corneal diseases. While there are numerous studies on keratoconus pathophysiology, there is no exact knowledge on genetic and pathophysiological background of KG and PMD, so far. It is not yet clarified, whether KG and PMD are independent clinical entities or represent different stages of the same disease. Our purpose was to investigate key parameters concerning collagen synthesis, intracellular LOX expression and inflammation in corneal stromal cells of KG and PMD subjects, in vitro. METHODS: Normal human keratocytes of corneas from the LIONS Cornea Bank Saar-Lor-Lux, Trier/Westpfalz and human keratocytes of KG and PMD patients were isolated and cultured as keratocytes. To examine Collagen I and V (Col I, Col V), heat shock protein 47 (Hsp47), Lysyl Oxidase (LOX), nuclear factor kappa B (NF-κB) mRNA and protein expression in all cell types, quantitative PCR and Western blot analysis has been performed. RESULTS: Col5A1 mRNA expression was significantly lower in KG and PMD keratocytes and LOX mRNA expression was significantly higher in KG-keratocytes, compared to controls. Col1A1, Hsp47 and NF-κB mRNA expression and the analyzed protein expressions did not differ from controls, in KG or PMD. CONCLUSIONS: Col5A1 mRNA expression is decreased in KG and PMD and LOX mRNA expression is increased in KG. Therefore, the pathophysiology of KG and PMD differs from KC and these seem to be from KC independent entities. The explanation of the peripheral corneal thinning in KG and PMD must be investigated in further studies.

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Megalocornea and anterior megalophthalmos (megalocornea spectrum) disorders are typically defined by corneal diameter > 12.5 mm in the absence of elevated intraocular pressure. Clinical features overlap with keratoglobus but are distinct from buphthalmos and severe (globus) keratoconus. Megalocornea spectrum disorders and keratoglobus are primarily congenital disorders, often with syndromic associations; both can present with large and thin corneas, creating difficulty in diagnosis, however, only keratoglobus is typically progressive. Molecular genetics provide significant insight into underlying aetiologies. Nonetheless, careful clinical assessment remains intrinsic to diagnosis. Surgical management can be challenging due to the enlarged ciliary ring and weakened zonules in megalocornea spectrum disorders and the extreme corneal thinning of keratoglobus. In this review, the established literature on measurement of corneal diameter, diagnosis of megalocornea, anterior megalophthalmos and keratoglobus, differentiation from severe keratoconus, recent molecular genetics research and key surgical modalities in the management of these rare disorders are outlined and discussed.

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BACKGROUND: Concomitant corneal ectasia and posterior lamellar corneal opacification is rare, and the genetic relationship between these two conditions is unclear. We report the genetic and clinical characterization of this phenotype in three unrelated individuals. MATERIALS AND METHODS: One previously reported affected individual and two unreported, unrelated, affected individuals were recruited for the study. Subjects and unaffected relatives underwent slit lamp examination, refraction, and multi-modal imaging. Saliva samples were obtained from two of the three affected individuals, from which DNA was extracted. Sanger sequencing was performed to identify mutations in genes associated with posterior amorphous corneal dystrophy (PACD), brittle cornea syndrome (BCS), and posterior polymorphous corneal dystrophy (PPCD), while copy number variation (CNV) analysis was used to identify CNV in the PACD locus. RESULTS: Affected individuals demonstrated bilateral corneal steepening, stromal thinning and lamellar posterior corneal opacification. Corneal topography and tomography revealed conical or globular corneal steepening and decreased thickness. Anterior segment optical coherence tomography demonstrated hyperreflectivity of the posterior stroma in each of the affected individuals. Genetic testing did not detect a heterozygous deletion involving the PACD locus on chromosome 12 or a pathogenic mutation in the genes associated with BCS or PPCD. CONCLUSIONS: Corneal ectasia may be associated with posterior lamellar stromal opacification that appears consistent with PACD. However, genetic testing for PACD as well as BCS and PPCD in affected individuals fails to reveal pathogenic deletions or mutations, indicating that other genetic factors are involved.

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We report a rare case of bilateral keratoglobus with hypermature intumescent cataract in a 55-year-old woman. Clinical examination and corneal topography confirmed generalized corneal bulging and global corneal thinning. A Pentacam® (Oculus Optikgerate, Wetzlar, Germany) demonstrated bilateral diffuse corneal thinning (368 µm in the right eye and 371 µm in the left eye). Phacoemulsification was performed in the right eye after thorough workup and modification of the surgical technique. This case report helps in better understanding of the challenges of cataract surgery and intraocular lens selection in a keratoglobus patient, and stresses the need for both thorough preoperative planning and intraoperative surgical modifications.

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PURPOSE: To report how to manage a specific type of Descemet's membrane (DM) rupture during manual DALK with a concurrent donor-recipient disparity of curvature. METHODS: Case report of two patients that had DM rupture during manual DALK with a concurrent donor-recipient disparity of curvature; the recipient bed was flatter (post-infectious scar, case 1) and steeper (keratoglobus, case 2) than the donor. Preoperative diagnosis, clinical exam, and best spectacle correct visual acuity (BSCVA) have been reported. A subtotal full-thickness circular cut of the recipient bed was performed to resolve a persistent double AC in case 1 (recipient flatter than donor). A total full-thickness circular cut of the recipient bed, creating a graft made by a DALK allograft and a "DSEK autograft," was performed to avoid a refractory double AC in case 2 (recipient steeper than donor). Evaluated outcomes included postoperative BSCVA, endothelial cell count (ECC), graft clarity, rejection, and presence/absence of double AC. RESULTS: Surgery was successful in resolving/avoiding double AC. VA improved in both cases. No episodes of rejection were recorded. Graft remained clear at the last follow-up (6 years for case 1 and 4 years for case 2). CONCLUSION: The existence of a donor-recipient curvature disparity should be investigated as a possible underlying mechanism of refractory double AC. Total or subtotal full thickness recipient bed cut may be considered to repair donor-recipient curvature disparity in cases of DM rupture occurring during manual DALK. Repairing the DM rupture and avoiding a conversion to PK in high-risk transplant cases are crucial.

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PURPOSE: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONS: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular exam was consistent with keratoglobus. His medical and family history indicated AR cutis laxa. CONCLUSIONS AND IMPORTANCE: We believe that this is the first reported case of keratoglobus associated with cutis laxa.

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Pellucid marginal degeneration (PMD) is a non-inflammatory ectatic corneal disease characterized by a narrow band of corneal thinning separated from the limbus by a relatively uninvolved area 1-2 mm in width. It is a rare corneal disorder that shares many clinical characteristics with other corneal ectasias, such as keratoconus, keratoglobus or Terrien marginal degeneration. PMD usually starts later in life than keratoconus and progresses slower than keratoconus. Slit-lamp examination is very useful to distinguish PMD from other corneal ectatic disorders with inflammatory nature. Corneal topographic indices and the classical crab-claw topographic pattern cannot be used as the main tool to distinguish between PMD and keratoconus. New Scheimpflug imaging-based devices have shown the importance and usefulness of the pachymetric map for an appropriate diagnosis of PMD. In addition, biomechanical and densitometric properties have been studied as complementary techniques to help in the diagnosis of PMD.

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We report the case of a 3-year-old boy presenting with bilateral keratoglobus and blue sclera in addition to hallux valgus, arachnodactyly, small joint hypermobility, mitral valve dysfunction and a history of generalized muscular hypotonia in early infancy. Molecular genetics provided evidence of two pathogenic mutations in the ZNF469 gene (compound heterozygosity) leading to the diagnosis of brittle cornea syndrome type 1. In addition to neuropediatric care, spectacles were prescribed to correct refractive error and for ocular protection. Owing to the thin cornea and sclera, eye injuries are the main cause for irreversible visual loss in this disease.

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RESUMEN Se presenta un caso clínico de un varón de 27 años de edad, con una ectasia corneal y presencia de queratoglobo en ambos ojos. La manifestación clínica fue disminución lenta y progresiva de la agudeza visual en ambos ojos y dolor en el ojo izquierdo. Al examen oftalmológico se constató hidrops corneal agudo en ojo izquierdo y otras complicaciones corneales, propias de esta anomalía. Se realizó un estudio oftalmológico que permitió un diagnóstico certero. Se aplicó la terapéutica correspondiente y se sugirieron otras opciones terapéuticas (AU).

ABSTRACT We present the clinical case of a male patient, aged 27 years, with corneal ectasia and keratoglobus in both eyes. The clinical manifestation was progressive and slow decrease of the visual acuity in both eyes and pain in the left eye. At the ophthalmologic examination, acute corneal hydrops was found in the left eye, and also other complications that are proper of this anomaly. An ophthalmologic study was carried out that lead to an accurate diagnosis. The correspondent therapy was applied and several therapeutic options were suggested (AU).

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RESUMEN Se presenta un caso clínico de un varón de 27 años de edad, con una ectasia corneal y presencia de queratoglobo en ambos ojos. La manifestación clínica fue disminución lenta y progresiva de la agudeza visual en ambos ojos y dolor en el ojo izquierdo. Al examen oftalmológico se constató hidrops corneal agudo en ojo izquierdo y otras complicaciones corneales, propias de esta anomalía. Se realizó un estudio oftalmológico que permitió un diagnóstico certero. Se aplicó la terapéutica correspondiente y se sugirieron otras opciones terapéuticas (AU).

ABSTRACT We present the clinical case of a male patient, aged 27 years, with corneal ectasia and keratoglobus in both eyes. The clinical manifestation was progressive and slow decrease of the visual acuity in both eyes and pain in the left eye. At the ophthalmologic examination, acute corneal hydrops was found in the left eye, and also other complications that are proper of this anomaly. An ophthalmologic study was carried out that lead to an accurate diagnosis. The correspondent therapy was applied and several therapeutic options were suggested (AU).

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INTRODUCTION: Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disease hallmarked by tortuosity, stenosis, and aneurysm development of large- and medium-sized arteries. Mutations in SLC2A10, a gene that encodes the facilitative glucose transporter GLUT10, cause ATS. Several case reports have noted associated ophthalmic findings such as keratoconus, keratoglobus, and myopia without detailed descriptions or standardized examinations. We report the ophthalmic findings in a cohort of compound heterozygous ATS patients and heterozygous carriers of SLC2A10 mutations. METHODS: Five ATS patients and three carriers were identified through an ATS specialty clinic at the Arkansas Children's Hospital in Little Rock, Arkansas. Patients underwent complete eye examinations, including corneal pachymetry, topography, and optical coherence tomography when indicated. RESULTS: All five patients with ATS had myopia and thin corneas with an average central corneal thickness of 426 µm, and three had corneal ectasia, two with early keratoconus and one with keratoglobus and deep stromal corneal opacities. One patient had bilateral high irregular astigmatism, and one had unilateral high regular astigmatism. All carriers had myopia, one had corneal thinning, and one developed keratectasia in one eye many years after laser-assisted in situ keratomileusis (LASIK) surgery. CONCLUSION: We document a spectrum of ophthalmic manifestations of ATS with universal findings of myopia, corneal thinning, and a propensity for corneal ectasia leading to keratoconus or keratoglobus. Heterozygous carriers may develop keratectasia after corneal refractive surgery. Our data support regular eye examinations for all patients carrying SLC2A10 mutations with follow-up tailored to clinical findings.

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PURPOSE: To describe the technique of limbal stem cell-sparing corneoscleroplasty for the management of advanced keratoglobus. METHODS: A patient with bilateral advanced keratoglobus, with best-corrected visual acuity of 20/400 in the right eye and 20/200 in the left eye, underwent limbal stem cell-sparing corneoscleroplasty of the right eye. Initially, a 360-degree limbal incision with 200-µm depth was created, followed by a sublimbal tunnel dissection into the sclera, in order to conserve stem cells. Next, a limbus-to-limbus lamellar keratectomy at 200-µm depth was performed. Meanwhile, a donor corneoscleral button with preserved endothelium of the central 8 mm was fashioned. Prior to suturing the donor corneoscleral graft using a modified suturing technique to cover its scleral component, a full-thickness trephination of 8-mm diameter was completed in the central host cornea. RESULTS: Reepithelialization occurred within the first week. No episodes of rejection, intraocular pressure spikes, or epithelial breakdown were observed postoperatively. At the 6-month follow-up, the patient had 20/70 best-corrected vision and a smooth cornea with regular astigmatism on topography. CONCLUSION: Limbal stem cell-sparing corneoscleroplasty is a single-step technique for restoring the structural integrity of the cornea in advanced keratoglobus while preserving the host limbal stem cells.

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A juvenile to young adult, male, great horned owl (Bubo virginianus,GHOW) was presented to the wildlife rehabilitation hospital at Lindsay Wildlife Museum (WRHLWM) due to trauma to the right patagium from barbed wire entanglement. On presentation, both corneas were irregular, dry, and no movement of the third eyelid was noted. A severe corneal enlargement/globoid appearance was the predominant ophthalmic feature. The fundus was normal in both eyes (OU). Over the course of several days, both corneas developed edema combined with further dessication at the ocular surface associated with diffuse dorsal fluorescein stain uptake. Repeated ophthalmic examinations found normal intraocular pressures and an inability to move the third eyelid over the enlarged corneas. The bird was deemed nonreleasable due to severe wing damage and poor prognosis associated with eye abnormalities and was humanely euthanized. Postmortem CT, enucleation, and histopathology were performed to evaluate the ocular anatomical abnormality and confirm the suspected diagnosis of keratoglobus. This GHOW represents the first reported case of presumptive keratoglobus in a raptor.

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We present the case of successful repair of an exposed glaucoma drainage tube by cornea graft fixation with tissue adhesive, and without subsequent coverage by adjacent conjunctiva or donor tissues. Patient with history of keratoglobus with thin cornea and sclera, and phthisical contralateral eye, underwent three unsuccessful corneal grafts followed by Boston type 1 keratoprosthesis in the right eye. Ahmed drainage device with sclera patch graft was implanted to control the intraocular pressure. Two years later the tube eroded through sclera graft and conjunctiva. Repair was performed by covering the tube with a corneal patch graft secured by tissue adhesive after the conjunctiva in this area was dissected away. The cornea graft was left uncovered due to fragility of adjacent conjunctiva. The healing of ocular and graft surfaces was complete prior to the 1 month follow-up. Conjunctival epithelium covered the corneal patch graft. At 12 months follow-up, the graft and the tube remained stable. Our report suggests that corneal patch graft fixation to the sclera by means of tissue adhesive, without closing the conjunctiva, can be considered as an effective alternative surgical approach for managing exposed glaucoma drainage tube, accompanied by adjacent conjunctiva tissue deficiency. How to cite this article: Berezina TL, Fechtner RD, Cohen A, Kim EE, Chu DS. New Technique of Exposed Glaucoma Drainage Tube Repair: Report of a Case. J Curr Glaucoma Pract 2015;9(2):62-64.