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Article: Protéine BIGH3: mutation du codon 124 et amylose cornéenne.

Schmitt-Bernard, C-F / Pouliquen, Y / Argilès, A

2004 Volume 27, Issue 5, Page(s) 510–522

Abstract: In 1997, a group of hereditary corneal dystrophies was related to mutations in the TGFBI (BIGH3) gene. Within this group, some corneal dystrophies present particular biochemical features in that they are characterized by corneal amyloid deposition. ... ...

Title translation	BIG-H3 protein: mutation of codon 124 and corneal amyloidosis.
Abstract	In 1997, a group of hereditary corneal dystrophies was related to mutations in the TGFBI (BIGH3) gene. Within this group, some corneal dystrophies present particular biochemical features in that they are characterized by corneal amyloid deposition. Contrary to clinical and genetic knowledge, the biochemical characteristics of the encoded protein (Big-h3) and the mechanisms of its amyloid conversion remain unclear. We review the current knowledge on the Big-h3 protein and focus on the behavior of the codon 124 region. We discuss this protein's mechanisms of amyloid conversion from our results and previous reports as well as from other types of amyloidosis. These data provide a better understanding of the putative processes leading to the phenotypic variations linked with their respective codon 124 mutation.
MeSH term(s)	Amino Acid Sequence ; Amyloidosis/genetics ; Amyloidosis/pathology ; Base Sequence ; Codon/genetics ; Corneal Diseases/genetics ; Corneal Diseases/pathology ; Extracellular Matrix Proteins/genetics ; Eye Proteins/genetics ; Humans ; Molecular Sequence Data ; Mutation ; Transforming Growth Factor beta/genetics
Chemical Substances	Codon ; Extracellular Matrix Proteins ; Eye Proteins ; Transforming Growth Factor beta ; betaIG-H3 protein (148710-76-3)
Language	French
Publishing date	2004-05-15
Publishing country	France
Document type	English Abstract ; Journal Article ; Review
ZDB-ID	426662-6
ISSN	1773-0597 ; 0181-5512
ISSN (online)	1773-0597
ISSN	0181-5512
DOI	10.1016/s0181-5512(04)96173-6
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Article: Efficience des critères vidéokératographiques quantitatifs dans l'analyse familiale de patients atteints de kératocône.

Claude, S / Verdier, R / Arnaud, B / Schmitt-Bernard, C-F

Journal francais d'ophtalmologie

2004 Volume 27, Issue 7, Page(s) 773–778

Abstract: Aim: We statistically assessed the videokeratographic data obtained from families with keratoconus in order to determine reliable criteria for detecting keratoconus suspects.: Material and methods: Fourteen keratoconus patients from 12 families were ... ...

Title translation	Accuracy of videokeratographic quantitative criteria for detection of keratoconus suspects in families with keratoconus.
Abstract	Aim: We statistically assessed the videokeratographic data obtained from families with keratoconus in order to determine reliable criteria for detecting keratoconus suspects. Material and methods: Fourteen keratoconus patients from 12 families were enlisted. We investigated 55 relatives (110 eyes). Standard videokeratographic data were obtained by screening 30 individuals (60 eyes) with clinically normal eyes, with no history of ocular disorders, contact lens wear, or keratoconus individuals in their family. Videokeratographic qualitative and quantitative analyses were performed on every subject. The videokeratographic threshold values obtained from the control group were used as a reference. Results: Two criteria based on the Klyce/Maeda indices proved their statistical significance in detecting keratoconus suspects. When considering the significant criteria ascertained by the statistical analysis, building pedigrees favored the autosomal dominant mode of inheritance. Two of the pedigrees corresponded to either a recessive mode of transmission or the potential occurrence of a de novo mutation. Conclusion: We have determined videokeratographic criteria of statistical significance for detecting keratoconus suspects. The knowledge of the status of each member of families with keratoconus is a prerequisite to performing genetic linkage analyses, which may allow a precise locus linked with this disorder to be refined.
MeSH term(s)	Adolescent ; Adult ; Child ; Corneal Topography ; Family Health ; Female ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Humans ; Keratoconus/diagnostic imaging ; Keratoconus/genetics ; Male ; Middle Aged ; Pedigree ; Phenotype ; Radiography
Language	French
Publishing date	2004-09-29
Publishing country	France
Document type	Evaluation Studies ; Journal Article
ZDB-ID	426662-6
ISSN	1773-0597 ; 0181-5512
ISSN (online)	1773-0597
ISSN	0181-5512
DOI	10.1016/s0181-5512(04)96212-2
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Article: Keratectasia induced by laser in situ keratomileusis in keratoconus.

Schmitt-Bernard, C F / Lesage, C / Arnaud, B

Journal of refractive surgery (Thorofare, N.J. : 1995)

2000 Volume 16, Issue 3, Page(s) 368–370

Abstract: Purpose: Corneal thinning disorders weaken the mechanical strength of affected corneas, suggesting that photorefractive procedures may be contraindicated in keratoconus. Few cases have been reported to confirm this hypothesis.: Methods: A 45-year-old ...

Abstract	Purpose: Corneal thinning disorders weaken the mechanical strength of affected corneas, suggesting that photorefractive procedures may be contraindicated in keratoconus. Few cases have been reported to confirm this hypothesis. Methods: A 45-year-old man had two laser in situ keratomileusis (LASIK) procedures and one photorefractive keratectomy (PRK) performed on his left eye, and three LASIK procedures on his right eye. After these surgeries, a dramatic corneal ectasia and grade III haze occurred in both eyes, with a clinical diagnosis of keratoconus. The changes in his corneas were followed with videokeratography and slit-lamp microscopy. Results: Preoperative videokeratograph of both eyes suggested keratoconus. After multiple refractive procedures, the best spectacle-corrected visual acuity was as low as 20/1200 bilaterally. Both eyes displayed dramatic corneal protrusion with corneal scarring. Conclusions: This case emphasizes the need for preoperative corneal thickness measurement and detailed analysis of videokeratographs. Thinning corneal disorders such as keratoconus, keratoconus suspects, or pellucid marginal degeneration are a contraindication for excimer laser ablative refractive procedures.
MeSH term(s)	Cornea/pathology ; Cornea/surgery ; Corneal Diseases/etiology ; Corneal Diseases/pathology ; Corneal Diseases/surgery ; Corneal Topography ; Dilatation, Pathologic/etiology ; Dilatation, Pathologic/pathology ; Humans ; Keratoconus/pathology ; Keratoconus/surgery ; Keratomileusis, Laser In Situ/adverse effects ; Male ; Middle Aged ; Visual Acuity
Language	English
Publishing date	2000-05
Publishing country	United States
Document type	Case Reports ; Journal Article
ISSN	1081-597X
ISSN	1081-597X
DOI	10.3928/1081-597X-20000501-12
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Article: Toxocarose oculaire. Intérêt de l'immunodiagnostic local.

Schneider, C / Arnaud, B / Schmitt-Bernard, C F

Journal francais d'ophtalmologie

2000 Volume 23, Issue 10, Page(s) 1016–1019

Abstract: Toxocara canis is a nematode that may be involved in human ocular toxocariasis. Specific immunotesting is of importance but may be negative as toxocara antigens may localize exclusively in vitreous humor. We report here the case of one patient with optic ...

Title translation	Ocular toxocariasis. Value of local immunodiagnosis.
Abstract	Toxocara canis is a nematode that may be involved in human ocular toxocariasis. Specific immunotesting is of importance but may be negative as toxocara antigens may localize exclusively in vitreous humor. We report here the case of one patient with optic disc toxocariasis granuloma negative for toxocara canis immunodiagnostic on serum. Clinical diagnosis was confirmed by toxocara canis specific enzyme-linked immunosorbent assay (ELISA) on aqueous humor showing elevated titers of antibodies. Systemic steroids associated to specific treatment of toxocariasis were initiated. Follow-up displayed regression of uveitis but development of vitreous bands leading to posterior retinal detachment. Toxocara posterior granuloma is of poor visual prognosis. Moreover, diagnosis may be of late setting, as clinical features are often unrecognized and specific immunodiagnostic on serum negative. Specific immunotesting on aqueous humor is of particular importance to rule out severe clinical differential diagnosis such as retinoblastoma in children. Ultrasound biomicroscopy (UBM) seems to be specific and sensitive in patients with a presumed diagnosis of peripheral toxocariasis. Granuloma surgery appears to yield good clinical results and allows histological confirmation of the diagnosis.
MeSH term(s)	Adult ; Animals ; Antibodies, Helminth/analysis ; Aqueous Humor/immunology ; Diagnosis, Differential ; Enzyme-Linked Immunosorbent Assay ; Eye Infections, Parasitic/diagnosis ; Eye Infections, Parasitic/drug therapy ; Eye Infections, Parasitic/immunology ; Granuloma/parasitology ; Granuloma/surgery ; Humans ; Male ; Prednisone/therapeutic use ; Toxocara canis/immunology ; Toxocariasis/diagnosis ; Toxocariasis/immunology
Chemical Substances	Antibodies, Helminth ; Prednisone (VB0R961HZT)
Language	French
Publishing date	2000-12
Publishing country	France
Document type	Case Reports ; English Abstract ; Journal Article
ZDB-ID	426662-6
ISSN	1773-0597 ; 0181-5512
ISSN (online)	1773-0597
ISSN	0181-5512
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Article: Forme clinique de l'anomalie papillaire en fleur de liseron ou Morning glory syndrome.

Schneider, C / Cayrol, D / Arnaud, B / Schmitt-Bernard, C F

Journal francais d'ophtalmologie

2002 Volume 25, Issue 2, Page(s) 178–181

Abstract: The Morning glory syndrome is an uncommon congenital optic disk anomaly. It is characterized by a funnel-shaped and enlarged dysplasic optic disk with white tissue, and retinal vessels arising from the periphery of the disk and running an abnormally ... ...

Title translation	Clinically isolated Morning glory syndrome.
Abstract	The Morning glory syndrome is an uncommon congenital optic disk anomaly. It is characterized by a funnel-shaped and enlarged dysplasic optic disk with white tissue, and retinal vessels arising from the periphery of the disk and running an abnormally straight course over the peripapillary retina. We report here the case of a 7-year-old girl with a delayed diagnosis of Morning glory syndrome discovered at a regular examination that showed amblyopia. The optic disk anomaly was isolated. The search for other associated morphological and/or functional abnormalities is mandatory (retinal and/or cerebral malformation, frontonasal dysplasia, endocrine irregularities, neurofibromatosis type 2). Periodic ophthalmological examinations are recommended due to the frequency of retinal detachment.
MeSH term(s)	Amblyopia/diagnosis ; Amblyopia/etiology ; Child ; Female ; Fluorescein Angiography ; Humans ; Optic Disk/abnormalities ; Risk Factors ; Syndrome
Language	French
Publishing date	2002-02
Publishing country	France
Document type	Case Reports ; English Abstract ; Journal Article
ZDB-ID	426662-6
ISSN	1773-0597 ; 0181-5512
ISSN (online)	1773-0597
ISSN	0181-5512
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Article: Amiodarone et oedème papillaire: problèmes physiopathogéniques à travers un cas.

Aït Ali, F / Grolleau-Raoux, F / Arnaud, B / Schmitt-Bernard, C-F

Journal francais d'ophtalmologie

2003 Volume 26, Issue 2, Page(s) 182–186

Abstract: We describe the case of a patient showing bilateral disk edema linked to amiodarone intake and discuss the controversial physiopathology of this condition. The clinical investigation as well as the follow-up of this case established the diagnosis of ... ...

Title translation	Amiodarone and disk edema: physiopathological debate based on a case report.
Abstract	We describe the case of a patient showing bilateral disk edema linked to amiodarone intake and discuss the controversial physiopathology of this condition. The clinical investigation as well as the follow-up of this case established the diagnosis of amiodarone-induced papillary disease. Pseudotumor cerebri and alteration of optic disk vascularization were also involved in the optic neuropathy displayed by this patient. This case illustrates the multifactorial character of this entity whose heterogeneous clinical expression is linked both to the direct toxic effect of amiodarone and the likely occurrence of pseudotumor cerebri, as well as to the disorders for which this type of medication is frequently used. Amiodarone is widely used and its implication as a cause of disk swelling should be systematically investigated.
MeSH term(s)	Aged ; Aged, 80 and over ; Amiodarone/adverse effects ; Anti-Arrhythmia Agents/adverse effects ; Humans ; Male ; Papilledema/chemically induced
Chemical Substances	Anti-Arrhythmia Agents ; Amiodarone (N3RQ532IUT)
Language	French
Publishing date	2003-02
Publishing country	France
Document type	Case Reports ; English Abstract ; Journal Article
ZDB-ID	426662-6
ISSN	1773-0597 ; 0181-5512
ISSN (online)	1773-0597
ISSN	0181-5512
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Article: Traumatisme oculaire et brûlure caustique par airbag.

Schmitt-Bernard, C F / Arnaud, B

Journal francais d'ophtalmologie

1998 Volume 21, Issue 3, Page(s) 220–222

Abstract: We report two cases of ocular injuries caused by airbag inflation. These cases illustrate two main types of airbag-induced eye injuries: chemical and traumatic. In the first case, chemical keratitis was caused by the aerosol spray of alkaline particles ... ...

Title translation	Ocular trauma and caustic burns by air bags.
Abstract	We report two cases of ocular injuries caused by airbag inflation. These cases illustrate two main types of airbag-induced eye injuries: chemical and traumatic. In the first case, chemical keratitis was caused by the aerosol spray of alkaline particles produced by the airbag deployment system. In the second case, the high-speed deployment system caused mechanical injury to the anterior and posterior segments demonstrating the effect of the sudden deceleration when the individual hits the airbag. These two cases as well as others reported in the literature suggest that ocular injury should always be suspected because of the inherent traumatic effect of the airbag protection system.
MeSH term(s)	Acceleration ; Adult ; Aerosols/adverse effects ; Air Bags/adverse effects ; Biomechanical Phenomena ; Burns, Chemical/etiology ; Cataract/etiology ; Eye Injuries/etiology ; Humans ; Keratitis/etiology ; Male ; Middle Aged
Chemical Substances	Aerosols
Language	French
Publishing date	1998-03
Publishing country	France
Document type	English Abstract ; Journal Article
ZDB-ID	426662-6
ISSN	1773-0597 ; 0181-5512
ISSN (online)	1773-0597
ISSN	0181-5512
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Article: Facteurs de perte cellulaire endothéliale au cours de la phacoémulsification. Mise au point.

Schmitt-Bernard, C F / Arnaud, B

Journal francais d'ophtalmologie

1997 Volume 20, Issue 8, Page(s) 628–639

Title translation	Factors of endothelial cell loss during phacoemulsification. Update.
MeSH term(s)	Cell Death ; Endothelium, Corneal/pathology ; Humans ; Phacoemulsification/adverse effects
Language	French
Publishing date	1997
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	426662-6
ISSN	1773-0597 ; 0181-5512
ISSN (online)	1773-0597
ISSN	0181-5512
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Article: Hyphéma spontané provoqué par l'extrait de Ginkgo biloba.

Schneider, C / Bord, C / Misse, P / Arnaud, B / Schmitt-Bernard, C F

Journal francais d'ophtalmologie

2002 Volume 25, Issue 7, Page(s) 731–732

Abstract: We report the first case of a patient in whom Ginkgo biloba extract proved to be the unique cause of spontaneous hyphema. Extensive ophthalmological and biological investigations were undertaken in order to assess the role of Ginkgo biloba: platelet ... ...

Title translation	Spontaneous hyphema caused by Ginkgo biloba extract.
Abstract	We report the first case of a patient in whom Ginkgo biloba extract proved to be the unique cause of spontaneous hyphema. Extensive ophthalmological and biological investigations were undertaken in order to assess the role of Ginkgo biloba: platelet numbering, hemostasis factors, Willebrand antigen, ristocetin cofactor, platelet glycoprotein immunophenotyping, glycoprotein expression after activation by thrombin, inflammatory markers, B-scan ultrasonography, and fluorescent iridography. No putative causes of hyphema were recorded other than Gingko biloba intake. The bleeding originated from the 12-o'clock position of the iris margin. Anamnesis identified Ginkgo biloba extract ingestion from 2 weeks before the appearance of the patient's visual trouble. Ginkgo biloba intake was stopped and the hemorrhage resolved with no recurrence during the 18 months of follow-up. Ginkgo biloba is known for platelet inhibition and is extensively used in the elderly because of its beneficial effects as a vascular protector. The clinical progression of the present case strongly suggests that Ginkgo biloba may cause hemorrhage and hyphema, even in the absence of any other predisposing factor.
MeSH term(s)	Aged ; Ginkgo biloba/adverse effects ; Humans ; Hyphema/chemically induced ; Male ; Phytotherapy/adverse effects ; Plant Extracts/adverse effects ; Platelet Aggregation Inhibitors
Chemical Substances	Plant Extracts ; Platelet Aggregation Inhibitors
Language	French
Publishing date	2002-09
Publishing country	France
Document type	Case Reports ; English Abstract ; Journal Article
ZDB-ID	426662-6
ISSN	1773-0597 ; 0181-5512
ISSN (online)	1773-0597
ISSN	0181-5512
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Article: Trauma after radial keratotomy and photorefractive keratectomy.

Schmitt-Bernard, C F / Villain, M / Beaufrere, L / Arnaud, B

Journal of cataract and refractive surgery

1997 Volume 23, Issue 5, Page(s) 803–804

Abstract: A 25-year-old man sustained bilateral ocular trauma from an explosion, which resulted in ocular injuries from the blast, mineral projections, and heat. Before the accident, the patient had eight-incision radial keratotomy in the left eye followed 1 week ... ...

Abstract	A 25-year-old man sustained bilateral ocular trauma from an explosion, which resulted in ocular injuries from the blast, mineral projections, and heat. Before the accident, the patient had eight-incision radial keratotomy in the left eye followed 1 week later by photorefractive keratectomy in the right eye. After the accident, the left cornea had a full-thickness rupture of four incisions; the fellow cornea had a full-thickness laceration from a mineral projection. Five months after the accident, the left eye had an uncorrected visual acuity of 20/25; the right eye did not achieve an acuity of 20/200 until 20 months after the accident.
MeSH term(s)	Adult ; Blast Injuries/etiology ; Blast Injuries/physiopathology ; Blast Injuries/surgery ; Cataract Extraction ; Conjunctiva/injuries ; Cornea/surgery ; Corneal Injuries ; Eye Injuries, Penetrating/etiology ; Eye Injuries, Penetrating/physiopathology ; Eye Injuries, Penetrating/surgery ; Follow-Up Studies ; Humans ; Keratotomy, Radial ; Lasers, Excimer ; Lens, Crystalline/injuries ; Lenses, Intraocular ; Male ; Myopia/surgery ; Photorefractive Keratectomy ; Rupture ; Surgical Wound Dehiscence/etiology ; Surgical Wound Dehiscence/physiopathology ; Surgical Wound Dehiscence/surgery ; Visual Acuity/physiology
Language	English
Publishing date	1997-06
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	632744-8
ISSN	1873-4502 ; 0886-3350
ISSN (online)	1873-4502
ISSN	0886-3350
DOI	10.1016/s0886-3350(97)80295-7
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