Inherited macular dystrophies and differential diagnostics

• Published in: Medicina (Kaunas, Lithuania) Vol. 48; no. 9; pp. 485 - 495
• Main Authors: Liutkevičienė, Rasa, Lesauskaitė, Vaiva, Ašmonienė, Virginija, Gelžinis, Arvydas, Zaliūnienė, Dalia, Jašinskas, Vytautas
• Format: Journal Article
• Language: English
• Published: Switzerland 01-01-2012
• Subjects: AC133 Antigen; Antigens, CD - genetics; ATP-Binding Cassette Transporters - genetics; Bestrophins; Chloride Channels - genetics; Diagnosis, Differential; Diagnostic Techniques, Ophthalmological; Eye Diseases, Hereditary - classification; Eye Diseases, Hereditary - diagnosis; Eye Proteins - genetics; Female; Glycoproteins - genetics; Humans; Intermediate Filament Proteins - genetics; Macular Degeneration - classification; Macular Degeneration - diagnosis; Male; Membrane Glycoproteins - genetics; Membrane Proteins - genetics; Mutation; Nerve Tissue Proteins - genetics; Peptides - genetics; Peripherins; Tissue Inhibitor of Metalloproteinase-3 - genetics
• ISSN: 1648-9144; 1648-9144
• DOI: 10.3390/medicina48090072

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.