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.
Highlights
The inherited macular dystrophies (MDs) comprise a heterogeneous group of diseases characterized by bilateral visual acuity loss and symmetrical different macular abnormalities
Diagnostics Subjective and objective ophthalmological tests are used for the diagnosis of inherited MDs
Since patients do not present with dramatic abnormalities of visual function, pattern dystrophy is typically diagnosed as age-related macular degeneration
Summary
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. 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 reviewed
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