scholarly journals Case Report: Autofluorescence Imaging and Phenotypic Variance in a Sibling Pair with Early-Onset Retinal Dystrophy Due to Defective CRB1 Function

2009 ◽  
Vol 34 (5) ◽  
pp. 395-400 ◽  
Author(s):  
Joaquin Tosi ◽  
Ilene Tsui ◽  
Luiz H. Lima ◽  
Nan-Kai Wang ◽  
Stephen H. Tsang
Keyword(s):  
Case Report ◽  
Early Onset ◽  
Retinal Dystrophy ◽  
Sibling Pair ◽  
Phenotypic Variance ◽  
Autofluorescence Imaging

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 Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

2021 ◽  
Author(s):  
Andreas R. Janecke ◽  
Xiaoqin Liu ◽  
Rüdiger Adam ◽  
Sumanth Punuru ◽  
Arne Viestenz ◽  
...  
Keyword(s):  
Early Onset ◽  
Single Nucleotide Polymorphism Array ◽  
Outer Nuclear Layer ◽  
Retinal Dystrophy ◽  
Geographic Origin ◽  
Retinal Disease ◽  
Homozygosity Mapping ◽  
Rod Photoreceptor ◽  
Loss Of Function ◽  
Knockout Mouse Model

AbstractBiallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report ten individuals of diverse geographic origin with biallelic STX3 loss-of-function variants, identified through exome sequencing, single-nucleotide polymorphism array-based homozygosity mapping, and international collaboration. The evaluated individuals all presented with MVID. Eight individuals also displayed early-onset severe retinal dystrophy, i.e., syndromic—intestinal and retinal—disease. These individuals harbored STX3 variants that affected both the retinal and intestinal STX3 transcripts, whereas STX3 variants affected only the intestinal transcript in individuals with solitary MVID. That STX3 is essential for retinal photoreceptor survival was confirmed by the creation of a rod photoreceptor-specific STX3 knockout mouse model which revealed a time-dependent reduction in the number of rod photoreceptors, thinning of the outer nuclear layer, and the eventual loss of both rod and cone photoreceptors. Together, our results provide a link between STX3 loss-of-function variants and a human retinal dystrophy. Depending on the genomic site of a human loss-of-function STX3 variant, it can cause MVID, the novel intestinal-retinal syndrome reported here or, hypothetically, an isolated retinal dystrophy.

scholarly journals Early onset first-episode psychosis during treatment with thalidomide for refractory ulcerative colitis: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Maria Giuseppina Petruzzelli ◽  
Lucia Margari ◽  
Sara Ivagnes ◽  
Roberto Palumbi ◽  
Francesco Margari
Keyword(s):  
Ulcerative Colitis ◽  
Case Report ◽  
Early Onset ◽  
First Episode Psychosis ◽  
First Episode ◽  
Episode Psychosis

Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report

2017 ◽  
Vol 57 (2) ◽  
pp. 139-146 ◽  
Author(s):  
Laura Denegri ◽  
Giulia Prato ◽  
Maria Margherita Mancardi ◽  
Cristina Schiaffino ◽  
Pasquale Striano ◽  
...  
Keyword(s):  
Case Report ◽  
Early Onset

Post-thymectomy myasthenia gravis: a case report and systematic review of literature

2021 ◽  
Vol 14 (12) ◽  
pp. e246005
Author(s):  
Louise Gurowich ◽  
Gabriel Yiin ◽  
Adam Maxwell ◽  
Alexandra Rice
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Myasthenia Gravis ◽  
Early Onset ◽  
Late Onset ◽  
High Morbidity ◽  
Review Of Literature ◽  
Prompt Treatment ◽  
Autoimmune Condition ◽  
Anti Acetylcholine

Myasthenia gravis (MG) is an autoimmune condition affecting the neuromuscular junction characterised by weakness and fatiguability, carrying a high morbidity if treatment is delayed. A clear association with thymoma has led to management with thymectomy as a common practice, but MG presenting post-thymectomy has rarely been reported. We present a case of an 82- year-old woman developing fatigue, ptosis and dysarthria 3 months after thymectomy. After a clinical diagnosis of MG was made, she responded well to prompt treatment with prednisolone and pyridostigmine. Her anti-acetylcholine receptor antibody (anti-AChR) subsequently came back positive. Our systematic review reveals that post-thymectomy MG can be categorised as early-onset or late-onset form with differing aetiology, and demonstrated correlation between preoperative anti-AChR titres and post-thymectomy MG. The postulated mechanisms for post-thymectomy MG centre around long-lasting peripheral autoantibodies. Clinicians should actively look for MG symptoms in thymoma patients and measure anti-AChR preoperatively to aid prognostication.

scholarly journals Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy

Genes ◽  
2017 ◽  
Vol 8 (12) ◽  
pp. 355 ◽  
Author(s):  
Fernanda Porto ◽  
Evan Jones ◽  
Justin Branch ◽  
Zachry Soens ◽  
Igor Maia ◽  
...  
Keyword(s):  
Early Onset ◽  
Retinal Dystrophy ◽  
Molecular Screening ◽  
Leber Congenital Amaurosis
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