scholarly journals Progressive Cone Dystrophy Associated with Mutation inCNGB3

2004 ◽  
Vol 45 (6) ◽  
pp. 1975 ◽  
Author(s):  
Michel Michaelides ◽  
Irene A. Aligianis ◽  
John R. Ainsworth ◽  
Peter Good ◽  
John D. Mollon ◽  
...  
Keyword(s):  
Cone Dystrophy

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.

scholarly journals CNGB1 ‐related rod‐cone dystrophy: a mutation review and update

2021 ◽  
Author(s):  
Marco Nassisi ◽  
Vasily Smirnov ◽  
Cyntia Solis Hernandez ◽  
Saddek Mohand‐Saïd ◽  
Christel Condroyer ◽  
...  
Keyword(s):  
Cone Dystrophy

scholarly journals Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

2021 ◽  
Vol 10 (11) ◽  
pp. 2265
Author(s):  
Kei Mizobuchi ◽  
Takaaki Hayashi ◽  
Noriko Oishi ◽  
Daiki Kubota ◽  
Shuhei Kameya ◽  
...  
Keyword(s):  
Age At Onset ◽  
Japanese Patients ◽  
Clinical Findings ◽  
Cone Dystrophy ◽  
Element Insertion ◽  
Retinal Dystrophies ◽  
Whole Exome ◽  
Novel Variants ◽  
Alu Element ◽  
Frequent Variant

Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical findings in Japanese patients. Methods: In total, 607 patients with inherited retinal diseases were examined using whole-exome/whole-genome sequencing (WES/WGS). PCR-based screening for an Alu element insertion (c.4052_4053ins328/p.Tyr1352AlafsTer9) was performed in 18 patients with autosomal-recessive (AR)-retinitis pigmentosa (RP) or AR-cone dystrophy (COD)/cone-rod dystrophy (CORD), including seven patients with heterozygous RP1 variants identified by WES/WGS analysis, and 11 early onset AR-RP patients, in whom no pathogenic variant was identified. We clinically examined 25 patients (23 families) with pathogenic RP1 variants, including five patients (five families) with autosomal-dominant (AD)-RP, 13 patients (11 families) with AR-RP, and seven patients (seven families) with AR-COD/CORD. Results: We identified 18 pathogenic RP1 variants, including seven novel variants. Interestingly, the Alu element insertion was the most frequent variant (32.0%, 16/50 alleles). The clinical findings revealed that the age at onset and disease progression occurred significantly earlier and faster in AR-RP patients compared to AD-RP or AR-COD/CORD patients. Conclusions: Our results suggest a genotype–phenotype correlation between variant types/locations and phenotypes (AD-RP, AR-RP, and AR-COD/CORD), and the Alu element insertion was the most major variant in Japanese patients with RP1-associated retinal dystrophies.

scholarly journals Unilateral focal choroidal excavation in cone dystrophy

2021 ◽  
Vol 14 (2) ◽  
pp. e240665
Author(s):  
Akash Belenje ◽  
Brijesh Takkar ◽  
Raja Narayanan ◽  
Subhadra Jalali
Keyword(s):  
Cone Dystrophy ◽  
Focal Choroidal Excavation

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.

ROD–CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME

2015 ◽  
Vol 9 (4) ◽  
pp. 298-301 ◽  
Author(s):  
Laura Kuehlewein ◽  
SriniVas R. Sadda
Keyword(s):  
Williams Syndrome ◽  
Cone Dystrophy

scholarly journals Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A)

Channels ◽  
2018 ◽  
Vol 12 (1) ◽  
pp. 17-33 ◽  
Author(s):  
D. M. Waldner ◽  
N. C. Giraldo Sierra ◽  
S. Bonfield ◽  
L. Nguyen ◽  
I. S. Dimopoulos ◽  
...  
Keyword(s):  
Night Blindness ◽  
Cone Dystrophy ◽  
Congenital Stationary Night Blindness ◽  
Loss Of Function ◽  
Function Model

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

2018 ◽  
Vol 95 (2) ◽  
pp. 329-333 ◽  
Author(s):  
Cécile Méjécase ◽  
Aurélie Hummel ◽  
Saddek Mohand-Saïd ◽  
Camille Andrieu ◽  
Said El Shamieh ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Cone Dystrophy ◽  
Complex Phenotype ◽  
Whole Exome

scholarly journals Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy?

2016 ◽  
Vol 79 (5) ◽  
Author(s):  
Onder Ayyildiz ◽  
Gokhan Ozge ◽  
Murat Kucukevcilioglu ◽  
Cem Ozgonul ◽  
Tarkan Mumcuoglu ◽  
...  
Keyword(s):  
Cone Dystrophy
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