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

scholarly journals Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

2021 ◽  
Vol 22 (12) ◽  
pp. 6410
Author(s):  
Vasily Smirnov ◽  
Olivier Grunewald ◽  
Jean Muller ◽  
Christina Zeitz ◽  
Carolin D. Obermaier ◽  
...  
Keyword(s):  
Early Onset ◽  
Retinal Dystrophy ◽  
Copy Number Variants ◽  
Cone Dystrophy ◽  
The Novel ◽  
Targeted Next Generation Sequencing ◽  
Large Deletions ◽  
Gene Panels ◽  
Generation Sequencing

Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal dystrophy (EOSRD). Genetic analysis was performed by targeted next generation sequencing of gene panels and assessment of copy number variants (CNV). We identified eight variants, of which six were novel, including two large multiexon deletions in patients with COD or CORD, while the EOSRD patient harboured the novel homozygous p.(Trp640*) variant and three distinct USH2A variants, which might explain the observed rod involvement. Our study highlights the role of TTLL5 in COD/CORD and the importance of large deletions. These findings suggest that COD or CORD patients lacking variants in known genes may harbour CNVs to be discovered in TTLL5, previously undetected by classical sequencing methods. In addition, variable phenotypes in TTLL5-associated patients might be due to the presence of additional gene defects.

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 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

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

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
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