Cone Dystrophy with Supernormal Rod Response Is Strictly Associated with Mutations inKCNV2

2008 ◽  
Vol 49 (2) ◽  
pp. 751 ◽  
Author(s):  
Bernd Wissinger ◽  
Susann Dangel ◽  
Herbert Ja¨gle ◽  
Lars Hansen ◽  
Britta Baumann ◽  
...  
Keyword(s):  
Cone Dystrophy ◽  
Rod Response

scholarly journals Novel Compound Heterozygous Mutations Resulting in Cone Dystrophy With Supernormal Rod Response

2013 ◽  
Vol 131 (11) ◽  
pp. 1482 ◽  
Author(s):  
Tamara Lee Lenis ◽  
Elona Dhrami-Gavazi ◽  
Winston Lee ◽  
Sri Krishna Mukkamala ◽  
Mirela Raluca Tabacaru ◽  
...  
Keyword(s):  
Cone Dystrophy ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations ◽  
Rod Response

Cone Dystrophy with Supernormal Rod Response

Ophthalmology ◽  
2013 ◽  
Vol 120 (11) ◽  
pp. 2338-2343 ◽  
Author(s):  
Lina Zelinger ◽  
Bernd Wissinger ◽  
Dalia Eli ◽  
Susanne Kohl ◽  
Dror Sharon ◽  
...  
Keyword(s):  
Cone Dystrophy ◽  
Rod Response

scholarly journals Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

2011 ◽  
Vol 32 (12) ◽  
pp. 1398-1406 ◽  
Author(s):  
Bernd Wissinger ◽  
Simone Schaich ◽  
Britta Baumann ◽  
Michael Bonin ◽  
Herbert Jägle ◽  
...  
Keyword(s):  
Cone Dystrophy ◽  
Large Deletions ◽  
Rod Response

A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response

2021 ◽  
pp. 1-6
Author(s):  
Pei-Kang Liu ◽  
Joseph Ryu ◽  
Lung-Kun Yeh ◽  
Kuan-Jen Chen ◽  
Stephen H. Tsang ◽  
...  
Keyword(s):  
Cone Dystrophy ◽  
Rod Response

‘Cone dystrophy with supranormal rod response’ in children

2011 ◽  
Vol 96 (3) ◽  
pp. 422-426 ◽  
Author(s):  
Arif O Khan ◽  
May Alrashed ◽  
Fowzan S Alkuraya
Keyword(s):  
Cone Dystrophy ◽  
Rod Response

Analysis of retinal structure and function in cone dystrophy with supernormal rod response

2020 ◽  
Vol 141 (1) ◽  
pp. 23-32 ◽  
Author(s):  
Ehab Abdelkader ◽  
Z. H. Yasir ◽  
Abdullah M. Khan ◽  
Osama Raddadi ◽  
Rajiv Khandekar ◽  
...  
Keyword(s):  
Structure And Function ◽  
Cone Dystrophy ◽  
Retinal Structure ◽  
And Function ◽  
Rod Response

scholarly journals Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Noémi Széll ◽  
Tamás Fehér ◽  
Zoltán Maróti ◽  
Tibor Kalmár ◽  
Dóra Latinovics ◽  
...  
Keyword(s):  
Middle Ages ◽  
Early Onset ◽  
Colour Vision ◽  
High Myopia ◽  
Field Testing ◽  
Cone Dystrophy ◽  
Ophthalmological Examination ◽  
Whole Exome ◽  
Caucasian Family ◽  
Cone System

Abstract Background Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis. Results We found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation. Conclusions This is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.

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