Literature DB >> 8458232

Corneal abnormalities in Ehlers-Danlos syndrome type VI.

J A Cameron1.   

Abstract

Eleven patients with blue sclera, limbus-to-limbus corneal thinning, hypermobile joints, and consanguineous parents were examined between January 1983 and September 1991. The clinical diagnosis was consistent with the Ehlers-Danlos syndrome type VI phenotype in all patients. A "halo" sign at the limbus was present in all patients. Corneal rupture occurred in seven patients (nine eyes) either spontaneously or following minimal trauma. Acute hydrops occurred in three patients. Bilateral microcornea was present in one patient and two patients had a unilateral increased corneal diameter as a result of secondary glaucoma after trauma. Peripheral sclerocornea was present bilaterally in five patients. Curvature abnormalities included cornea plana, keratoconus, and keratoglobus.

Entities:  

Mesh:

Year:  1993        PMID: 8458232     DOI: 10.1097/00003226-199301000-00009

Source DB:  PubMed          Journal:  Cornea        ISSN: 0277-3740            Impact factor:   2.651


  26 in total

Review 1.  Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies.

Authors:  Yelena Bykhovskaya; Xiaohui Li; Irina Epifantseva; Talin Haritunians; David Siscovick; Anthony Aldave; Loretta Szczotka-Flynn; Sudha K Iyengar; Kent D Taylor; Jerome I Rotter; Yaron S Rabinowitz
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-06-28       Impact factor: 4.799

Review 2.  Keratoglobus.

Authors:  B S Wallang; S Das
Journal:  Eye (Lond)       Date:  2013-06-28       Impact factor: 3.775

Review 3.  The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders.

Authors:  Lubica Dudakova; Katerina Jirsova
Journal:  J Neural Transm (Vienna)       Date:  2013-02-20       Impact factor: 3.575

Review 4.  The Ehlers-Danlos syndromes.

Authors:  Fransiska Malfait; Marco Castori; Clair A Francomano; Cecilia Giunta; Tomoki Kosho; Peter H Byers
Journal:  Nat Rev Dis Primers       Date:  2020-07-30       Impact factor: 52.329

5.  Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Authors:  Emma M M Burkitt Wright; Helen L Spencer; Sarah B Daly; Forbes D C Manson; Leo A H Zeef; Jill Urquhart; Nicoletta Zoppi; Richard Bonshek; Ioannis Tosounidis; Meyyammai Mohan; Colm Madden; Annabel Dodds; Kate E Chandler; Siddharth Banka; Leon Au; Jill Clayton-Smith; Naz Khan; Leslie G Biesecker; Meredith Wilson; Marianne Rohrbach; Marina Colombi; Cecilia Giunta; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

6.  Histopathologic and immunohistochemical studies of keratoglobus.

Authors:  Beeran Meghpara; Hiroshi Nakamura; Geeta K Vemuganti; Somasheila I Murthy; Joel Sugar; Beatrice Y J T Yue; Deepak P Edward
Journal:  Arch Ophthalmol       Date:  2009-08

7.  Abnormal retinal blood vessels in Ehlers-Danlos syndrome type VI.

Authors:  Nobuhiko Chikamoto; Shinichiro Teranishi; Tai-Ichiro Chikama; Teruo Nishida; Kenji Ohshima; Yoshikazu Hatsukawa
Journal:  Jpn J Ophthalmol       Date:  2007-12-21       Impact factor: 2.447

8.  Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

Authors:  Alice E Davidson; Sek-Shir Cheong; Pirro G Hysi; Cristina Venturini; Vincent Plagnol; Jonathan B Ruddle; Hala Ali; Nicole Carnt; Jessica C Gardner; Hala Hassan; Else Gade; Lisa Kearns; Anne Marie Jelsig; Marie Restori; Tom R Webb; David Laws; Michael Cosgrove; Jens M Hertz; Isabelle Russell-Eggitt; Daniela T Pilz; Christopher J Hammond; Stephen J Tuft; Alison J Hardcastle
Journal:  PLoS One       Date:  2014-08-05       Impact factor: 3.240

9.  TAG (Tube and Graft) Sandwich Technique: A Novel Single-Stage Scleral Reinforcement and Aqueous Drainage Tube Implantation.

Authors:  Faisal Ahmed; Nada G Mohamed
Journal:  Case Rep Ophthalmol Med       Date:  2021-07-14

10.  Differential Gene Transcription of Extracellular Matrix Components in Response to In Vivo Corneal Crosslinking (CXL) in Rabbit Corneas.

Authors:  Sabine Kling; Arthur Hammer; Emilio A Torres Netto; Farhad Hafezi
Journal:  Transl Vis Sci Technol       Date:  2017-12-12       Impact factor: 3.283

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