0000000000770549

AUTHOR

Francis L. Munier

showing 3 related works from this author

Franceschetti Hereditary Recurrent Corneal Erosion

2011

To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy.Observational case series.Slit-lamp examination of 10 affected individuals was conducted. Biomicroscopic examinations were supplemented by peripheral corneal biopsy in 1 affected patient with corneal haze. Tissue was processed for light and electron microscopy and immunohistochemistry was performed. DNA analysis was carried out in 12 affected and 3 nonaffected family members.All affected individuals suffered from severe ocular pain in the first decade of life, attributable to recurrent corneal erosions. Six adult pat…

AdultMalemedicine.medical_specialtyBiopsyDNA Mutational AnalysisDermatan SulfateCorneal dystrophyCorneal OpacityCorneal erosionAntigens NeoplasmRecurrenceTransforming Growth Factor betaOphthalmologymedicineEye PainHumansChildAgedAged 80 and overCorneal Dystrophies HereditaryExtracellular Matrix Proteinsbusiness.industryCadherinsmedicine.diseaseImmunohistochemistryPedigreeRecurrent corneal erosionOphthalmologyClaudinsFemaleDecorinbusinessCell Adhesion MoleculesChondroitinBiomarkersAmerican Journal of Ophthalmology
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

2005

Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…

AchromatopsiaGenetics and epigenetic pathways of disease [NCMLS 6]genetic structuresGATED CATION CHANNELCNGB3 mutationsNonsense mutationMutantCyclic Nucleotide-Gated Cation ChannelsColor Vision DefectsGenes RecessiveLocus (genetics)Gene mutationBiologyTOTAL COLOURBLINDNESSIon ChannelsCLONINGDogscyclic nucleotide-gated channelGNAT2GeneticsmedicineLOCUSAnimalsHumansMissense mutationNeurosensory disorders [UMCN 3.3]ACHM3 locusDog DiseasesAlleleAllelesGenetics (clinical)Geneticstotal colorblindnessGNAT2PHOTORECEPTORSDYSTROPHYmedicine.diseaseCONE DEGENERATIONGENEeye diseasesPhenotypeEvaluation of complex medical interventions [NCEBP 2]MutationRetinal Cone Photoreceptor Cellssense organsachromatopsiarod monochromacyALPHA-SUBUNIThuman activities
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IC3D Classification of Corneal Dystrophies—Edition 2

2015

To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information.The IC3D reviewed worldwide peer-reviewed articles for new information on corneal dystrophies published between 2008 and 2014. Using this information, corneal dystrophy templates and anatomic classification were updated. New clinical, histopathologic, and confocal photographs were added.On the basis of revisiting the cellular origin of corneal dystrophy, a modified anatomic classification is proposed consisting of (1) epithelial and subepithelial dystrophies, (2) epithelial-stromal TGFBI dystrophies, (3) stromal dystrophies, and (4) endothelial d…

Macular corneal dystrophygenetic structuresEndothelial dystrophiesGenetic diseaseStromaEpitheliumGelatinousdrop-like corneal dystrophyCorneaLisch Epithelial Corneal DystrophyCornea pathologyPosteror polymorphous corneal dystrophyCorneal Dystrophies HereditaryPosterior amorphous corneal dystrophyEpithelial-stromal TGFBI dystrophiesMacular corneal dystrophyFleck corneal dystrophyLattice corneal dystrophyPre-Descemet corneal dystrophyCongenital stromal corneal dystrophySubepithelialmucinous corneal dystrophySchnyder corneal dystrophyThiel-Behnke corneal dystrophyPosterior polymorphous corneal dystrophyEpithelial and subepithelial dystrophiesFuchsendothelial corneal dystrophyFleck corneal dystrophyReis-Bücklers corneal dystrophyCongenital hereditary endothelial dystrophyCentralcloudy dystrophy of FrançoisCongenital stromal corneal dystrophyPosterior amorphous corneal dystrophymedicine.medical_specialtyHistologyeducationHereditary diseaseHistopathologyBiologyKeratoconusLisch epithelial corneal dystrophyMeesmann dystrophyNOBowman membraneDescemetmembraneInternational Classification of DiseasesTerminology as TopicOphthalmologyGeneticsmedicineHumansBowman membrane; Centralcloudy dystrophy of François; Confocal microscopy; Confocal microscopy; Congenital corneal endothelial dystrophy and X-linked endothelialdystrophy; Congenital stromal corneal dystrophy; Cornea; Cornea; Cornea dystrophy; Cornea pathology; Descemetmembrane; Endothelial dystrophies; Endothelium; Epithelial and subepithelial dystrophies; Epithelial basement membranedystrophy; Epithelial recurrent erosion dystrophies; Epithelial-stromal TGFBI dystrophies; Epithelium; Fleck corneal dystrophy; Fuchsendothelial corneal dystrophy; Gelatinousdrop-like corneal dystrophy; Genetic disease; Genetics; Granular corneal dystrophy type 1; Granular corneal dystrophy type 2; Hereditary disease; Histology; Histopathology; Keratoconus; Lattice corneal dystrophy; Lisch epithelial corneal dystrophy; Macular corneal dystrophy; Meesmann dystrophy; Posterior amorphous corneal dystrophy; Posteror polymorphous corneal dystrophy; Pre-Descemet corneal dystrophy; Reis-Bücklers corneal dystrophy; Schnyder corneal dystrophy; Stroma; Stromal dystrophies; Subepithelialmucinous corneal dystrophy; TGFBI; Thiel-Behnke corneal dystrophy; OphthalmologyEndotheliumEpithelial basement membranedystrophyCornea dystrophyCongenital corneal endothelial dystrophy and X-linked endothelialdystrophymedicine.diseaseeye diseasesConfocal microscopyOphthalmologyGranular corneal dystrophy type 2Granular corneal dystrophy type 1Stromal dystrophiesLattice corneal dystrophysense organsTGFBIEpithelial recurrent erosion dystrophiesCornea
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