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Case Reports in Ophthalmology, ISSN 1663-2699, 05/2017, Volume 8, Issue 2, pp. 446 - 451
Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in... 
Familial amyloidosis | Corneal pathology | Gelsolin | Lattice corneal dystrophy | Meretoja syndrome | Finnish type | Pathology | Genetic counseling | Genetic testing | Mutation | Deoxyribonucleic acid--DNA | Familial amyloidosis, Finnish type
Journal Article
JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION, ISSN 0030-9982, 04/2018, Volume 68, Issue 4, pp. 663 - 665
Journal Article
Chinese Medical Journal, ISSN 0366-6999, 09/2004, Volume 117, Issue 9, pp. 1418 - 1421
Journal Article
Japanese Journal of Ophthalmology, ISSN 0021-5155, 1999, Volume 42, Issue 6, pp. 450 - 455
To characterize severe lattice corneal dystrophy, we analyzed the βig- h3 gene, clinical features, histological findings, and genotype-phenotype correlation in... 
lattice corneal dystrophy | high penetrance | point mutation | βig-h3 | lamellar keratoplasty | High penetrance | Lattice corneal dystrophy | Lamellar keratoplasty | Point mutation
Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2016, Volume 53, Issue 5, pp. 762 - 769
IntroductionHereditary gelsolin amyloidosis (GA) is a rare condition caused by the gelsolin gene mutation. The diagnostic triad includes corneal lattice... 
cranial neuropathy | amyloidosis | gelsolin | bilateral facial paresis | facial paresis grading | Facial paresis grading | Amyloidosis | Gelsolin | Cranial neuropathy | Bilateral facial paresis | GSN GENE | NEUROSCIENCES | FINNISH TYPE FAF | POLYNEUROPATHY TYPE-IV | CLINICAL NEUROLOGY | LATTICE CORNEAL-DYSTROPHY | HEARING-LOSS | NEUROPATHY | FAMILIAL AMYLOIDOSIS | MERETOJAS SYNDROME | HEREDITARY AMYLOIDOSIS | MUTATION | Vestibulocochlear Nerve Diseases - physiopathology | Cutis Laxa - etiology | Humans | Middle Aged | Vestibulocochlear Nerve Diseases - etiology | Oculomotor Nerve Diseases - etiology | Male | Amyloid Neuropathies, Familial - physiopathology | Facial Nerve Diseases - etiology | Hypoglossal Nerve Diseases - physiopathology | Corneal Dystrophies, Hereditary - physiopathology | Facial Paralysis - physiopathology | Aged, 80 and over | Adult | Female | Electromyography | Amyloidosis - complications | Cranial Nerve Diseases - physiopathology | Hypoglossal Nerve Diseases - etiology | Trigeminal Nerve Diseases - physiopathology | Trigeminal Nerve Diseases - etiology | Amyloid Neuropathies, Familial - complications | Amyloidosis - physiopathology | Neural Conduction | Facial Nerve Diseases - physiopathology | Oculomotor Nerve Diseases - physiopathology | Facial Muscles - physiopathology | Cranial Nerve Diseases - etiology | Corneal Dystrophies, Hereditary - complications | Aged | Facial Paralysis - etiology | Development and progression | Paralysis, Facial | Gene mutations | Wood products | Workshops | Index Medicus
Journal Article
Journal Article
Experimental Eye Research, ISSN 0014-4835, 06/1998, Volume 66, Issue 6, pp. 739 - 745
Lattice corneal dystrophy type I (LCDI) is an inherited autosomal dominant local amyloidosis, restricted to the corneal stroma. Comparison of electrophoretic... 
SDS-PAGE | βIG-H3 | biochemistry | lattice corneal dystrophy type I | immunohistology | Immunohistology | Biochemistry | SDS- PAGE | Lattice corneal dystrophy type I | TGF BETA-1 | beta IG-H3 | FIBROBLASTS | GELSOLIN | FAMILIAL AMYLOIDOSIS | EPITHELIAL-CELLS | MESSENGER-RNA | BASIC FGF | GENE | OPHTHALMOLOGY | RECURRENCE | CHROMOSOME-5Q
Journal Article
Pakistan Journal of Medical Sciences, ISSN 1682-024X, 01/2015, Volume 31, Issue 1, pp. 116 - 120
Objective: The aim was to compare the corneal topography and tomography parameters of macular corneal dystrophy (MCD), granular corneal dystrophy (GCD) and... 
Scheimpflug imaging | Pentacam corneal densitometry unit | Lattice corneal dystrophy | Granular corneal dystrophy | Macular corneal dystrophy | MEDICINE, GENERAL & INTERNAL | THICKNESS | KERATOCONUS | Bone densitometry | Original
Journal Article
JAPANESE JOURNAL OF OPHTHALMOLOGY, ISSN 0021-5155, 11/1998, Volume 42, Issue 6, pp. 450 - 455
To characterize severe lattice corneal dystrophy, we analyzed the beta ig-h3 gene, clinical features, histological findings, and genotype-phenotype correlation... 
AMYLOIDOSIS | high penetrance | DNA | POLYMERASE | OPHTHALMOLOGY | lattice corneal dystrophy | LINKAGE | beta ig-h3 | point mutation | lamellar keratoplasty | FEATURES
Journal Article