[Achromatopsia].
Hereditary cone diseases manifest as progressive or stationary disorders. Among the stationary cone disorders autosomal recessive achromatopsia occurs most frequently and begins within the first months of life with nystagmus and photophobia. Color discrimination is not possible, and visual acuity is severely reduced. In addition to a thorough ophthalmic examination, color vision tests and electrophysiology are prerequisites to establish a diagnosis of achromatopsia. A genetic examination is very helpful to distinguish achromatopsia from other stationary cone disorders like X-linked recessive blue cone monochromatism and from progressive cone and cone-rod dystrophies. It is the correct clinical and genetic diagnosis that eventually will allow an individual prognosis, accurate genetic counseling, and the optimal choice of low vision aids.
Universitäts-Augenklinik, Freiburg, Deutschland. charlotte.poloschek@uniklinik-freiburg.de
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D000293:Adolescent; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X; D003117:Color Vision Defects / Q000175:diagnosis / Q000235:genetics*; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005654:Fundus Oculi; D005808:Genes, Recessive / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D012729:Sex Chromosome Aberrations; D014787:Vision Tests; D014792:Visual Acuity / Q000235:genetics; D058609:Visual Field Tests
C518238:CNGA3 protein, human; C415904:CNGB3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels