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https://www.readbyqxmd.com/read/28902010/posterior-amorphous-corneal-dystrophy-associated-with-keratoglobus-a-case-report
#1
Jonathan Fay, Alexandra A Herzlich, George J Florakis
PURPOSE: Posterior amorphous corneal dystrophy (PACD) is a rare disorder characterized by sheet-like opacification of the posterior corneal stroma, corneal thinning, and decreased corneal curvature. It is not known to be associated with progressive corneal ectasia. In this report, we examine the course of a patient with PACD who developed bilateral keratoglobus-type corneal ectasia. METHODS: The clinical history of a single patient is reviewed from birth through age 15...
September 8, 2017: Cornea
https://www.readbyqxmd.com/read/28726533/ophthalmic-findings-in-patients-with-arterial-tortuosity-syndrome-and-carriers-a-case-series
#2
Joshua S Hardin, Yuri A Zarate, Bert Callewaert, Paul H Phillips, David B Warner
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...
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28691945/femtosecond-laser-assisted-tuck-in-penetrating-keratoplasty-for-advanced-keratoglobus-with-endothelial-damage
#3
Jorge L Alió Del Barrio, Olena Al-Shymali, Jorge L Alió
PURPOSE: To describe the outcomes of femtosecond laser-assisted tuck-in penetrating keratoplasty as a single-step surgical procedure for visual and anatomical rehabilitation of patients with severe keratoglobus (KTG) and endothelial damage. METHODS: Two eyes of a 7-year-old patient with bilateral severe KTG and previous corneal hydrops were operated. Assisted by the femtosecond laser, both donor and recipient corneas were prepared. An 8.5-mm full-thickness donor tissue with a peripheral partial-thickness rim of 1...
July 6, 2017: Cornea
https://www.readbyqxmd.com/read/28559840/limbal-stem-cell-sparing-corneoscleroplasty-with-peripheral-intralamellar-tuck-a-new-surgical-technique-for-keratoglobus
#4
Elias Jarade, Rafic Antonios, Sylvain El-Khoury
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...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27958215/congenital-keratoglobus-with-blue-sclera-in-two-siblings-with-overlapping-marshall-stickler-phenotype
#5
Serhat Imamoglu, Vedat Kaya, Ebru Yalin Imamoglu, Kemran Gok
We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit-lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit-lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pachymetry maps showed diffuse corneal thinning. Two siblings had in common the features of keratoglobus, blue sclera, atypical face, hearing loss, and hypermobile joints...
November 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27758814/unusual-case-of-globe-perforation-the-brittle-cornea-without-systemic-manifestations
#6
Shilpa Ajit Joshi, Shalomith Uppapalli, Pranav More, Madan Deshpande
Brittle cornea syndrome is a rare generalised connective tissue disorder with ocular features like keratoglobus or keratoconus, severe corneal thinning and a high risk of perforation. Various authors in different case reports and case series have brought out the fact that brittle cornea is a disorder with characteristic systemic manifestations such as deafness, joint hypermobility, hyperelasticity of skin, kyphoscoliosis and dental abnormalities alongwith ophthalmic features. We report a case of globe perforation following trivial trauma, in an individual with brittle cornea without any extraocular manifestations, posing a challenge in the diagnosis and dilemma in surgical repair of cornea, restoration of globe integrity and visual rehabilitation...
October 7, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27477943/presumptive-keratoglobus-in-a-great-horned-owl-bubo-virginianus
#7
Rachael K Lau, Anneke Moresco, Sarah J Woods, Christopher M Reilly, Michelle G Hawkins, Christopher J Murphy, Steven R Hollingsworth, Dennis Hacker, Kate S Freeman
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...
July 31, 2016: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/27330900/keratoglobus-a-close-entity-to-megalophthalmos
#8
Noopur Gupta, Anita Ganger
BACKGROUND: Keratoglobus closely resembles buphthalmos and anterior megalophthalmos. FINDINGS: A 45-year-old man presented with gradually progressive, painless, diminution of vision in both eyes since childhood. On examination, visual acuity of right (RE) and left eye (LE) was 20/60 and 2/20 respectively. Clinical pictures of the patient are shown in panel A, B, C, D. Keratometry values were 46.47/47.94 D at 42/132° in RE and 46.90/47.23 D at 174/84° in LE, signifying steep, ectatic cornea...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27032025/identification-of-mutations-in-the-prdm5-gene-in-brittle-cornea-syndrome
#9
Shazia Micheal, Muhammad Imran Khan, Farrah Islam, Farah Akhtar, Raheel Qamar, Marie-José Tassignon, Bart Loeys, Anneke I den Hollander
BACKGROUND: Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disease characterized by variable combinations of corneal thinning and fragility, corneal ruptures either spontaneously or after minor trauma, blue sclerae, keratoconus, keratoglobus, and high myopia. So far, mutations in 2 genes, PRDM5 and ZNF469, have been associated with BCS. The purpose of this study is to describe novel mutations in the PRDM5 gene in patients with BCS. METHODS AND RESULTS: Using homozygosity mapping with single-nucleotide polymorphism markers followed by whole-exome sequencing, we identified a novel homozygous splice site variant (c...
June 2016: Cornea
https://www.readbyqxmd.com/read/26997836/new-technique-of-exposed-glaucoma-drainage-tube-repair-report-of-a-case
#10
Tamara L Berezina, Robert D Fechtner, Amir Cohen, Eliott E Kim, David S Chu
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...
May 2015: Journal of Current Glaucoma Practice
https://www.readbyqxmd.com/read/26294106/management-of-advanced-corneal-ectasias
#11
REVIEW
Prafulla K Maharana, Aditi Dubey, Vishal Jhanji, Namrata Sharma, Sujata Das, Rasik B Vajpayee
Corneal ectasias include a group of disorders characterised by progressive thinning, bulging and distortion of the cornea. Keratoconus is the most common disease in this group. Other manifestations include pellucid marginal degeneration, Terrien's marginal degeneration, keratoglobus and ectasias following surgery. Advanced ectasias usually present with loss of vision due to high irregular astigmatism. Management of these disorders is difficult due to the peripheral location of ectasia and associated severe corneal thinning...
January 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/25971168/keratoglobus-an-experience-at-a-tertiary-eye-care-center-in-india
#12
Varsha M Rathi, Somasheila I Murthy, Bhupesh Bagga, Mukesh Taneja, Sunita Chaurasia, Virender S Sangwan
CONTEXT: This study was carried out as a part of an internal audit and is the largest series of patients having keratoglobus, published in the literature. Poor visual acuity of the patients indicates the blinding nature of the disease. AIMS: We report our experience with patients having keratoglobus at a tertiary eye care center in India. SETTINGS AND DESIGN: Retrospective study. MATERIALS AND METHODS: We analyzed adults and pediatric patients (<16 years) with keratoglobus, seen during 2008-2012...
March 2015: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/25474231/use-of-a-novel-lamellar-keratoplasty-with-pleat-technique-to-address-the-abnormal-white-to-white-diameter-in-keratoglobus
#13
David Lockington, Kanna Ramaesh
PURPOSE: We describe a novel surgical technique that seeks to address the fundamental mechanical problem of the superiorly and vertically displaced limbus and the corresponding abnormal corneal white-to-white diameter in keratoglobus. METHOD: A 42-year-old woman had progressive reduction of vision due to hydrops of her right cornea with secondary peripheral corneal perforation due to progressive bilateral keratoglobus. Her visual acuity was hand movements in the right eye, with an uncorrectable refractive error...
February 2015: Cornea
https://www.readbyqxmd.com/read/24492760/an-ocular-surface-prosthesis-for-keratoglobus-and-terrien-s-marginal-degeneration
#14
Rajeswari Mahadevan, Asra Fathima, Rajni Rajan, Amudha Oli Arumugam
PURPOSE: This case report describes the challenges in fitting corneas using the prosthetic replacement of ocular surface ecosystem (PROSE) device in a unique case of bilateral keratoglobus (KG) with Terrien's marginal degeneration (TMD). CASE REPORT: KG and TMD are uncommon corneal ectatic conditions, characterized by protrusion and thinning of the cornea. Optical correction with spectacles is limited, as this may not provide the best-corrected visual acuity because of irregular corneal astigmatism...
April 2014: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/24409942/congenital-keratoglobus-with-multiple-cardiac-anomalies-a-case-presentation-and-literature-review
#15
REVIEW
Pinar A Ozer, Zuleyha Yalniz-Akkaya
Keratoglobus is a rare condition of bilateral corneal ectasia, which results in high myopia, irregular astigmatism, scarring, and rarely spontaneous globe rupture. Globoid protrusion of a clear, diffusely thin cornea is the pathology. The congenital form has been associated with blue sclera in which there is a systemic connective tissue disorder with abnormal collagen synthesis like Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. Some concomitant abnormalities reported with kertoglobus include joint hypermobility, dental and skeletal abnormalities, osteal fragility, and deafness...
July 2015: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/24162750/limbal-stem-cell-sparing-lamellar-keratoplasty-for-the-management-of-advanced-keratoglobus
#16
Farid Karimian, Alireza Baradaran-Rafii, Amir Faramarzi, Mitra Akbari
PURPOSE: To describe the technique and outcomes of limbal stem cell-sparing lamellar keratoplasty (LSCS-LKP) for the management of advanced keratoglobus (KGB). METHODS: In a sequential interventional case series from March 2010 to December 2012, 8 eyes of 6 patients with advanced KGB underwent an LSCS-LKP. Three patients had isolated KGB, 2 were affected with the Ehlers-Danlos syndrome, and the other subject had osteogenesis imperfecta. Epithelial healing, anatomical results (corneal thickness and keratometry), and visual outcomes were evaluated after this intervention...
January 2014: Cornea
https://www.readbyqxmd.com/read/24145901/wearing-time-as-a-measure-of-success-of-scleral-lenses-for-patients-with-irregular-astigmatism
#17
Ilya Ortenberg, Shmuel Behrman, Wasim Geraisy, Irina S Barequet
OBJECTIVES: To evaluate the visual correction and clinical performance with scleral contact lenses (CL) for the visual rehabilitation of irregular astigmatism and to report the effect of brief wearing breaks on the wearing time and success rate. METHODS: A retrospective review was performed on consecutive patients who were fitted with scleral CL because of irregular astigmatism following failure of other optical corrections. Visual acuity (VA) and wearing times were abstracted...
November 2013: Eye & Contact Lens
https://www.readbyqxmd.com/read/23807384/keratoglobus
#18
REVIEW
B S Wallang, S Das
Keratoglobus is a rare noninflammatory corneal thinning disorder characterised by generalised thinning and globular protrusion of the cornea. It was first described as a separate clinical entity by Verrey in 1947. Both congenital and acquired forms have been shown to occur, and may be associated with various other ocular and systemic syndromes including the connective tissue disorders. Similarities have been found with other noninflammatory thinning disorders like keratoconus that has given rise to hypotheses about the aetiopathogenesis...
September 2013: Eye
https://www.readbyqxmd.com/read/23710398/descemet-stripping-endothelial-keratoplasty-in-a-patient-with-keratoglobus-and-chronic-hydrops-secondary-to-a-spontaneous-descemet-membrane-tear
#19
Anton M Kolomeyer, David S Chu
Purpose. To report the use of Descemet stripping endothelial keratoplasty (DSEK) in a patient with keratoglobus and chronic hydrops. Case Report. We describe a case of a 28-year-old man with bilateral keratoglobus and chronic hydrops in the right eye secondary to spontaneous Descemet membrane tear. The patient presented with finger counting (CF) vision, itching, foreign body sensation, and severe photophobia in the right eye. Peripheral corneal thinning with central corneal protrusion and Descemet membrane tear spanning from 4 to 7 o'clock was noted on slit lamp examination...
2013: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/23680354/znf469-frequently-mutated-in-the-brittle-cornea-syndrome-bcs-is-a-single-exon-gene-possibly-regulating-the-expression-of-several-extracellular-matrix-components
#20
Marianne Rohrbach, Helen L Spencer, Louise F Porter, Emma M M Burkitt-Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al-Hussain, Matthias Baumgartner, Beat Steinmann, Graeme C M Black, Forbes D C Manson, Cecilia Giunta
Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the small joints are additional features of BCS. Transcriptional regulation of extracellular matrix components, particularly of fibrillar collagens, by PRDM5 and ZNF469 suggests that they might be part of the same pathway, the disruption of which is likely to cause the features of BCS...
July 2013: Molecular Genetics and Metabolism
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