Cone dystrophy with supernormal rod response

Orpha code: 209932OMIM code: 610356

Definition

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.

Disease data
Classification

Disease

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

No additional description.

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