scholarly journals Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

2017 ◽  
Vol 2017 ◽  
pp. 1-10 ◽  
Author(s):  
Giancarlo Iarossi ◽  
Matteo Bertelli ◽  
Paolo Enrico Maltese ◽  
Elena Gusson ◽  
Giorgio Marchini ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Dominant ◽  
Pedigree Analysis ◽  
Familial Exudative Vitreoretinopathy ◽  
Complex Disorder ◽  
Novel Variants ◽  
Age Appropriate ◽  
Genetic Evaluations ◽  
Age Range

Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7–19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP. Clinical and genetic evaluations were extended to relatives of probands positive to genetic testing. Six out of eight probands (75%) showed a genetic variation probably related to the phenotype. We identified four novel genetic variants, one variant already described in association with Norrie disease and one previously described linked to autosomal dominant FEVR. Pedigree analysis of patients led to the classification of four autosomal dominant cases of FEVR (caused by FZD4 and TSPAN12 variants) and two X-linked FEVR probands (NDP variants). None of the patients showed variants in the LRP5 gene. This study represents the largest cohort study in Italian FEVR patients. Our findings are in agreement with the previous literature confirming that FEVR is a clinically and genetically heterogeneous retinal disorder, even when it manifests in the same family.

scholarly journals Corrigendum to “Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy”

2017 ◽  
Vol 2017 ◽  
pp. 1-2
Author(s):  
Giancarlo Iarossi ◽  
Matteo Bertelli ◽  
Paolo Enrico Maltese ◽  
Elena Gusson ◽  
Giorgio Marchini ◽  
...  
Keyword(s):  
Familial Exudative Vitreoretinopathy ◽  
Novel Variants ◽  
Phenotype Characterization

scholarly journals Genetic testing for familial exudative vitreoretinopathy

2017 ◽  
Vol 1 (s1) ◽  
pp. 51-53 ◽  
Author(s):  
Andi Abeshi ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Slit Lamp ◽  
Dominant Inheritance ◽  
Familial Exudative Vitreoretinopathy

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for familial exudative vitreoretinopathy (FEVR). There is insufficient data to determine the prevalence of FEVR. Variations in the FZD4 (OMIM gene: 604579; OMIM disease: 133780), TSPAN12 (OMIM gene: 613138; OMIM disease: 613310) and ZNF408 (OMIM gene: 616454; OMIM disease: 616468) genes have autosomal dominant inheritance, whereas variations in LRP5 (OMIM gene: 603506; OMIM disease: 601813) have autosomal dominant or recessive inheritance and variations in NDP (OMIM gene: 300658; OMIM disease: 305390) have X-linked inheritance. Clinical diagnosis is based on clinical findings, family history, ophthalmological examination, fundoscopy, slit-lamp examination and fluorescein angiography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles

2019 ◽  
Vol 21 (6) ◽  
pp. 1034-1052 ◽  
Author(s):  
Andrea Gaedigk ◽  
Amy Turner ◽  
Robin E. Everts ◽  
Stuart A. Scott ◽  
Praful Aggarwal ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Reference Materials

Characterization of Electroencephalographic Findings at an Electrodiagnostic Unit of a Tertiary Hospital, North-central Nigeria

2021 ◽  
Vol 2 (1) ◽  
pp. 49-55
Author(s):  
E U Iwuozo ◽  
J O Enyikwola ◽  
I O Obekpa ◽  
O O Ijachi ◽  
A A Godwin ◽  
...  
Keyword(s):  
Tertiary Hospital ◽  
Seizure Disorder ◽  
Cross Sectional ◽  
North Central ◽  
Younger Age ◽  
High Prevalence ◽  
Diagnosis And Classification ◽  
Age Range

Electroencephalography (EEG) remains an important investigative tool in supporting the diagnosis and classification of various seizure types. We sought to examine and characterize the EEG findings from all patients referred for the procedure. This cross-sectional retrospective study was carried out at an EEG unit in Federal Medical Centre, Makurdi, Benue State, North Central Nigeria from May 2016 to December 2020. Relevant patients' information were extracted and analysed using SPSS version 21. A total of 484 patients were seen over the study period with age range of 1-87 years and median age of 23 years. They comprised of 254 (52.5%) male and 230 (47.5%) female. The psychiatrist and the Physicians/Neurologist referred most of them for EEG, 201 (41.5%) and 124 (25.6%) respectively. The most reported indication for EEG was clinical suspicion of seizure disorder 291 (60.1%), whilst some did not have a clear indication 111 (22.9%). About 417 (86.2%) of our patients had abnormal EEG finding out of which 414 (99.3%) were diagnostic of seizure disorder made up of generalized seizure in 255 (61.6%) and focal seizure in 159 (38.4%). About 237 (48.9%) of them were already on antiepileptic drugs (AEDs) at referral of which 190 (80.2%0 were taking carbamazepine. This study showed a high prevalence of abnormal EEG with most of them diagnostic of seizure disorder especially generalized seizure. They were mostly of younger age group with about half of them already on AEDs at referral, majority of who were sent by the Psychiatrist.

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