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Cone Dystrophy with Supernormal Rod Response

Cone Dystrophy with Supernormal Scotopic Electroretinogram


Presentation

  • In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3%) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunction, indicating that CDSRR is underdiagnosed and more common[ncbi.nlm.nih.gov]
  • A majority of those who will speak and present posters at the meeting will contribute to this volume.[books.google.com]
  • Clinical data of 13 KCNV2 patients suggested that, although in some cases the classic phenotype of CDSRR was present, others may have dark-adapted electroretinographic responses that are within normal range.[ncbi.nlm.nih.gov]
  • Macular defects ranging from mild pigmentary changes to distinct foveal atrophy were present in nine patients. Progression of the disease was observed in only three of seven patients with follow-up data.[ncbi.nlm.nih.gov]
  • In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3{\%}) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunction, indicating that CDSRR is underdiagnosed and more[research.regionh.dk]
Inflammation
  • These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the[books.google.com]
Pallor
  • There may be some temporal pallor in the optic nerves. Nystagmus and strabismus may be present. Systemic Features: No systemic disease has been reported.[disorders.eyes.arizona.edu]
Surgical Procedure
  • View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com, fully searchable, with regular updates and a downloadable image gallery.[books.google.com]
Night Blindness
  • Involvement in disease Defects in PDE6H are the cause of cone dystrophy retinal type 3A (RCD3A) [MIM:610024]; also known as cone dystrophy with night blindness and supernormal rod responses.[abcam.com]
  • . * (years) VA OD OS Refraction OD OS Nystagmus Color Vision Deficiency Night Blindness Fundus Progression 14588_GD E73X G461R M 4, 5 0.3 3.50 No Yes Yes Normal ND 0.3 3.50 14589_CH E184K G461R F 11, 24 0.3 13.50–3.00 15 Yes Yes Yes Slight foveal RPE[iovs.arvojournals.org]
  • Keywords Stimulus Intensity Implicit Time Night Blindness Central Scotoma High Stimulus Intensity These keywords were added by machine and not by the authors.[link.springer.com]
  • Name Retinal Cone Dystrophy 3B Synonyms CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED, CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; CDSRR Classification eye, genetic Phenotypes Astigmatism ; Autosomal recessive inheritance[dev.mousephenotype.org]
  • The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.[genecards.org]
Strabismus
  • Expert guidance on the complete spectrum of childhood eye disorders and strabismus, including a unique "practical problems" section designed to help you handle difficult patient situations.[books.google.com]
  • Browse the complete contents of Pediatric Ophthalmology and Strabismus online, download all the images, and watch brand-new procedural videos at www.expertconsult.com.[books.google.com]
  • Nystagmus and strabismus may be present. Systemic Features: No systemic disease has been reported. Genetics This is an autosomal recessive disorder resulting from homozygous or compound heterozygous mutations in the KCNV2 gene (9p24.2).[disorders.eyes.arizona.edu]
  • CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; CDSRR Classification eye, genetic Phenotypes Astigmatism ; Autosomal recessive inheritance ; Cone/cone-rod dystrophy ; Horizontal nystagmus ; Macular atrophy ; Myopia ; Nyctalopia ; Photophobia ; Scotoma ; Strabismus[dev.mousephenotype.org]
Retinal Pigmentation
  • Autofluorescence was variable but often showed a ring-like area of high density that in middle-aged individuals, usually surrounded by an area of macular retinal pigment epithelial atrophy.[ndcn.ox.ac.uk]
  • […] dystrophy due to retinol transport defect Reticular dystrophy of the retinal pigment epithelium Retinal degeneration-nanophthalmos-glaucoma syndrome Retinal dystrophy Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Retinal[se-atlas.de]
  • This wave is the most common component of the ERG used in clinical and experimental analysis of human retinal function. c-wave: derived from the retinal pigment epithelium and photoreceptors The c-wave is a reflection of the resulting change in the transepithelial[eyewiki.aao.org]
Photophobia
  • RESULTS: Photophobia and nyctalopia were common. Autofluorescence was variable but often showed a ring-like area of high density that in middle-aged individuals, usually surrounded by an area of macular retinal pigment epithelial atrophy.[ndcn.ox.ac.uk]
  • Photophobia is a prominent symptom. The ERG shows reduced and delayed cone responses.[disorders.eyes.arizona.edu]
  • RESPONSES, KCNV2-RELATED, CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; CDSRR Classification eye, genetic Phenotypes Astigmatism ; Autosomal recessive inheritance ; Cone/cone-rod dystrophy ; Horizontal nystagmus ; Macular atrophy ; Myopia ; Nyctalopia ; Photophobia[dev.mousephenotype.org]
Visual Impairment
  • Apply all the latest clinical advances through updated coverage of strabismus diagnosis, management and complications; retinal dystrophies; imaging & investigation; AIDS in children; developmental biology; cerebral visual impairment; child abuse; severe[books.google.com]
  • Prevalence and progression of visual impairment in patients newly diagnosed with clinical type 2 diabetes: a 6-year follow up study.[kennedy.dk]
Suggestibility
  • In addition, KCNV2 was screened in 4 families in which review of the clinical data suggested CDSRR misdiagnosis. The analysis revealed 2 compound heterozygous mutations in 1 family.[ncbi.nlm.nih.gov]
  • We found that these mutations dramatically reduce or abolish this interaction suggesting a lack of assembly of heteromeric Kv channels as one underlying pathomechanism of CDSRR. 2011 Wiley-Liss, Inc. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]
  • We found that these mutations dramatically reduce or abolish this interaction suggesting a lack of assembly of heteromeric Kv channels as one underlying pathomechanism of CDSRR.[research.regionh.dk]
  • (Gly461Arg) KCNV2_00005 - sporadic - - DNA SEQ - - 1 - 20 Legend: [ KCNV2 full legend ] Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen[grenada.lumc.nl]
  • Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). Eur J Neurosci. 2008 May;27(9):2391-401.[eye-tuebingen.de]
Nystagmus
  • Nystagmus and strabismus may be present. Systemic Features: No systemic disease has been reported. Genetics This is an autosomal recessive disorder resulting from homozygous or compound heterozygous mutations in the KCNV2 gene (9p24.2).[disorders.eyes.arizona.edu]
  • . * (years) VA OD OS Refraction OD OS Nystagmus Color Vision Deficiency Night Blindness Fundus Progression 14588_GD E73X G461R M 4, 5 0.3 3.50 No Yes Yes Normal ND 0.3 3.50 14589_CH E184K G461R F 11, 24 0.3 13.50–3.00 15 Yes Yes Yes Slight foveal RPE[iovs.arvojournals.org]
  • DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED, CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; CDSRR Classification eye, genetic Phenotypes Astigmatism ; Autosomal recessive inheritance ; Cone/cone-rod dystrophy ; Horizontal nystagmus[dev.mousephenotype.org]
  • Annotation: Early ocular phenotype in siblings with a homozygous p.G461R mutation in the KCNV2 gene presented nystagmus increased light sensitivity reduced color discrimination and relative central scotomas. . Source: GeneRIF: 169522 .[uniprot.org]
  • Friedburg, Investigative ophthalmology & visual science 2011 ( PubMed ) GeneRIF : Early ocular phenotype in siblings with a homozygous p.G461R mutation in the KCNV2 gene presented nystagmus, increased light sensitivity, reduced color discrimination, and[papers.genomics.lbl.gov]
Excitement
  • The RD Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them.[books.google.com]

Treatment

  • Treatment Treatment Options: No effective treatment is available for this dystrophy. Low vision aids and tinted lenses may be helpful.[disorders.eyes.arizona.edu]
  • Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.com]
  • State-of-the-art coverage of key areas such as OCT and all of the newest imaging techniques for the eye, orbit and visual pathways; anti-VEGF treatment for retinopathy of prematurity; and minimally invasive strabismus surgery.[books.google.com]
  • The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70.[books.google.com]
  • The long term aim of this research is to develop novel therapies for this group of disorders which are currently not amenable to treatment.[vision-research.eu]

Etiology

  • Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management[books.google.com]
  • Get a balanced view of etiology, diagnosis, and management, and access unique guidance on the practical problems encountered in real-life clinical cases. Impresses the importance of systemic disease in diagnosis and management.[books.google.com]

Epidemiology

  • Relevant External Links for PDE6H Genetic Association Database (GAD) PDE6H Human Genome Epidemiology (HuGE) Navigator PDE6H Atlas of Genetics and Cytogenetics in Oncology and Haematology: PDE6H No data available for Genatlas for PDE6H Gene Isolation and[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.com]

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