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GENATLAS PHENOTYPE
last update : 21-12-2009
Symbol MDBS1
Location 6p21.1
Name macular dystrophy, butterfly shaped pigmentary, 1
Other name(s) patterned dystrophy of retinal pigment epithelium
Corresponding gene PRPH2
Main clinical features
  • onset of the disease between the third and fourth decades, starting with mild visual acuity loss and periods of metamorphopsia, subretinal yellowish macular deposits evolving into geographic atrophy and retinal hypopigmentation and hyperpigmentation; at ERG, rod dysfunction, and electro-oculograms mildly to severely disturbed
  • Genetic determination autosomal dominant
    Related entries . including Zermatt macular dystrophy, retinitis pigmentosa with bull's- eye maculopathy and other pattern dystrophies
    Function/system disorder eye
    Type disease
    Gene product
    Name retinal slow degeneration, photoreceptor peripherin (RDS)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   unknown deletion affecting codon 169
    missense   unknown R172W prominent mutation
    Remark(s)