Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration

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Electrophysiological testing as a method of cone-rod and cone dystrophy diagnoses and prediction of disease progression.

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Q39053003-609120CA-6026-4E80-B227-969502FB59AC

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Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 28 August 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration

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Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration.

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Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration

@en

Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration.

@nl

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Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration

@en

Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration.

@nl

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Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration

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Hiroyuki Sakuramoto

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Kazuki Kuniyoshi

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Kazushige Tsunoda

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Masakazu Akahori

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Takeshi Iwata

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Yoshikazu Shimomura

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X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

Dominant cone dystrophy starting with blue cone involvement

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1703-1711

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scholarly article

case report

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10.2147/OPTH.S48723

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English

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2013-08-28T00:00:00Z

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24039390

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sibling

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3770715

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Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration

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P2860

P2860

Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P577

P698

P921

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