title: Inherited macular dystrophies and differential diagnostics.
abstract: The inherited macular dystrophies are characterized by different grade central visual loss and different character macula atrophy, because of retinal pigment epithelium lesion. The cause of photoreceptors degeneration is still not known. In this article, we review subjective and objective ophthalmological examines essential to diagnosis and differential diagnosis of inherited autosomal dominant and autosomal recessive macular dystrophies. It is known seven gene mutations (ABCA4, ELOVL4, PROML1, VMD2, Peripherin/RDS, TIMP3, XLRS), which may cause inherited macular dystrophies development. Inheritance type of inherited macular dystrophies, prevalence, beginning of disease, spread of the disease between female and male, clinic, electroretinography, electrooculography, differential diagnosis, genetic research and prognosis are also reviewed.
authors.affiliation: Department of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, Eivenių 2, 50028 Kaunas, Lithuania. rliutkeviciene@gmail.com
authors.forename: Rasa
authors.initials: R
authors.lastname: Liutkevičienė
authors.forename: Vaiva
authors.initials: V
authors.lastname: Lesauskaitė
authors.forename: Virginija
authors.initials: V
authors.lastname: Ašmonienė
authors.forename: Arvydas
authors.initials: A
authors.lastname: Gelžinis
authors.forename: Dalia
authors.initials: D
authors.lastname: Zaliūnienė
authors.forename: Vytautas
authors.initials: V
authors.lastname: Jašinskas
mesh_terms: D000071916:AC133 Antigen; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D015703:Antigens, CD / Q000235:genetics; D000075002:Bestrophins; D018118:Chloride Channels / Q000235:genetics; D003937:Diagnosis, Differential; D003941:Diagnostic Techniques, Ophthalmological; D015785:Eye Diseases, Hereditary / Q000145:classification / Q000175:diagnosis*; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008268:Macular Degeneration / Q000145:classification / Q000175:diagnosis*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010455:Peptides / Q000235:genetics; D064531:Peripherins; D019717:Tissue Inhibitor of Metalloproteinase-3 / Q000235:genetics
chemical_list: C056475:ABCA4 protein, human; D000071916:AC133 Antigen; D018528:ATP-Binding Cassette Transporters; D015703:Antigens, CD; C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; C418975:ELOVL4 protein, human; D005136:Eye Proteins; D006023:Glycoproteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D010455:Peptides; D064531:Peripherins; C108726:RS1 protein, human; C088390:TIMP3 protein, human; D019717:Tissue Inhibitor of Metalloproteinase-3