Dystrofia stożka z wzmocnioną odpowiedzią pręcików

Kod Orpha: 209932Kod OMIM: 610356

Definicja

Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.

Dane
Klasyfikacja

Choroba

Synonimy
Cone dystrophy with supernormal rod ERG
Dystrofia stożka z ponadnormalnym ERG pręcików
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal scotopic electroretinogram
Kod ORPHA
209932
Kod OMIM
610356
Kod ICD10
H35.5
Kod ICD11
9B7Y

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