title: Is the lattice dystrophy of the cornea due to developmental anomalies of neural crest cells during embryogenesis (neurocristopathies)?
abstract: With the present paper authors try to give an embryological approach in understanding etiopathogenesis of lattice corneal dystrophy (LCD). The case of a 41-years-old man affected by isolated LCD has been examined at the Ophtalmologic Clinic of the University of Catania, Italy. Sore cornea has been excised during cornea transplantation, and it has been examined by transmission electron microscopy (TEM). Results confirm classic submicroscopic findings described in literature. However these findings offer possibility to consider an embryological interpretation of LCD pathogenesis. Our findings with those of literature put forward hypothesis of a hereditary etiopathogenetical role exerted by keratocytes, direct derivatives of neural crest cells during embryogenesis, probably via an abnormal gene expression in producing proteinaceous precursor of amyloid substance (APP). LCD could be considered a neurocristopathy.
authors.affiliation: Department of Biomedical Science, University of Catania, Italy. pacastro@unict.it
authors.forename: Paola
authors.initials: P
authors.lastname: Castrogiovanni
authors.forename: Rosa
authors.initials: R
authors.lastname: Imbesi
authors.forename: Fabio
authors.initials: F
authors.lastname: D'Amico
authors.forename: Vera
authors.initials: V
authors.lastname: Mazzone
authors.forename: Nicolò
authors.initials: N
authors.lastname: Cavallaro
mesh_terms: D000328:Adult; D016229:Amyloid beta-Peptides / Q000096:biosynthesis; D016564:Amyloid beta-Protein Precursor / Q000235:genetics / Q000378:metabolism; D003315:Cornea / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D003886:Descemet Membrane / Q000378:metabolism / Q000473:pathology; D047108:Embryonic Development / Q000502:physiology; D004728:Endothelium, Corneal / Q000378:metabolism / Q000473:pathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D015603:Keratinocytes / Q000378:metabolism / Q000473:pathology; D008297:Male; D046529:Microscopy, Electron, Transmission; D009432:Neural Crest / Q000166:cytology* / Q000378:metabolism
chemical_list: D016229:Amyloid beta-Peptides; D016564:Amyloid beta-Protein Precursor