Autosomal dominant cone-rod dystrophy with negative electroretinogram.

Autosomal dominant retinitis pigmentosa: a log quotient analysis of the photopic and scotopic b-wave amplitude.

The relationship of the photopic and the scotopic b-wave amplitudes of the electroretinogram was studied in 85 normal subjects and 25 patients with autosomal dominant retinitis pigmentosa, in which one amplitude was at least 20 microvolts. The log quotient of their b-wave amplitudes--that is log of the photopic b-wave amplitude divided by the scotopic b-wave amplitude--was considered to represe...

Cone rod dystrophies

Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies (RCDs) resulting from the primary loss in r...

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

BACKGROUND Cone-rod dystrophy is a retinal dystrophy with early loss of cone photoreceptors and a parallel or subsequent loss of rod photoreceptors. It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance. METHODS AND RESULTS We identified a small consanguineous family with six patients with cone-rod dystrophy from t...

Author's response to reviews Title: A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1 Authors:

Cone and rod function in cone degenerations

Progressive cone dystrophy (CD) is usually marked in the initial stages by reduced visual acuity, color vision deficiency and alterations in the photopic electroretinogram, while morphological alterations can be very mild; in some forms rods are affected in a later stage as well. We examined 40 patients with progressive cone dystrophy to determine the extent of functional losses in the cone sys...