scholarly journals Genetic testing for Norrie disease

2017 ◽  
Vol 1 (s1) ◽  
pp. 77-79
Author(s):  
Andi Abeshi ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Lucia Ziccardi ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Optical Coherence Tomography ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Norrie Disease

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Norrie disease. The disease is caused by variations in the NDP gene. Its prevalence is currently unknown. Inheritance is X-linked recessive. Clinical diagnosis is based on clinical findings, color vision testing, optical coherence tomography, ophthalmological examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for X-linked juvenile retinoschisis

2017 ◽  
Vol 1 (s1) ◽  
pp. 111-113
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Optical Coherence Tomography ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Juvenile Retinoschisis

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to one in 25000 males, and is caused by mutations in the RS1 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for choroideremia

2017 ◽  
Vol 1 (s1) ◽  
pp. 26-28
Author(s):  
Andi Abeshi ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Francesco Viola ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Optical Coherence Tomography ◽  
Differential Diagnosis ◽  
Clinical Utility ◽  
Scientific Literature ◽  
Genetic Test ◽  
Fundus Autofluorescence ◽  
Clinical Findings ◽  
Ophthalmological Examination

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene. The overall prevalence of CHM varies from 1 in 50 000 to 1 in 100 000. Clinical diagnosis is based on clinical findings, ophthalmological examination, visual field, fundus autofluorescence, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for Mendelian myopia

2017 ◽  
Vol 1 (s1) ◽  
pp. 74-76
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian myopia (MM), a large and heterogeneous group of inherited refraction disorders. Variations in the SLC39A5, SCO2 and COL2A1 genes have an autosomal dominant transmission, whereas those in the LRPAP1, P3H2, LRP2 and SLITRK6 genes have autosomal recessive transmission. The prevalence of MM is currently unknown. Clinical diagnosis is based on clinical findings, family history, ophthalmological examination and other tests depending on complications. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for Sorsby’s fundus dystrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 102-104
Author(s):  
Andi Abeshi ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Lucia Ziccardi ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Optical Coherence Tomography ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Dominant Inheritance ◽  
Sorsby's Fundus Dystrophy

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Sorsby’s fundus dystrophy (SFD). SFD is caused by variations in the TIMP3 gene. Prevalence is, currently unknown. SFD has autosomal dominant inheritance. Clinical diagnosis is based on clinical findings, color vision testing, optical coherence tomography, ophthalmological examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for pattern dystrophies

2017 ◽  
Vol 1 (s1) ◽  
pp. 86-88 ◽  
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Maura Di Nicola ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Optical Coherence Tomography ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for pattern dystrophies. Pattern dystrophies are mostly inherited in an autosomal dominant manner (autosomal recessive transmission is rare). The overall prevalence is currently unknown. Pattern dystrophies are caused by variations in the BEST1, IMPG1, IMPG2, OTX2, PRPH2 and CTNNA1 genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, electrooculography and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for color vision deficiency

2017 ◽  
Vol 1 (s1) ◽  
pp. 32-34
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Color Vision ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Color Vision Deficiency ◽  
Dark Adaptometry

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner. It is associated with variations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303900) and OPN1MW (OMIM gene: 300821; OMIM disease: 303800) genes. Tritanopia has a prevalence of 1 in 10 000, is inherited in an autosomal dominant manner, and is related to variations in the OPN1SW (OMIM gene: 613522; OMIM disease: 190900) gene. Blue cone monochromatism has a prevalence of 1 in 100 000, is inherited in an X-linked recessive manner and is related to mutations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303700) and OPN1MW (OMIM gene: 300821; OMIM disease: 303700) genes. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, electroretingraphy, color vision testing and dark adaptometry. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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 Genetic testing for lymphedema-distichiasis syndrome

2018 ◽  
Vol 2 (s1) ◽  
pp. 13-15
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Stefano Paolacci ◽  
Carla Marinelli ◽  
Matteo Bertelli
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Differential Diagnosis ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Double Row ◽  
Primary Lymphedema

AbstractWe studied the scientific literature and disease guidelines to summarize the clinical utility of genetic testing for lymphedema distichiasis (LD) syndrome. LD is inherited in an autosomal dominant manner, and has unknown prevalence. It is caused by variations in the FOXC2 gene. Clinical diagnosis involves clinical examination, targeted at identifying primary lymphedema (chronic swelling of the extremities) and distichiasis (double row of eyelashes). The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for Bietti crystalline dystrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 20-22
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Lucia Ziccardi ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Scientific Literature ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Inheritance ◽  
Bietti Crystalline Dystrophy

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Bietti crystalline dystrophy (BCD). The disease has autosomal recessive inheritance, a prevalence of 1 per 67 000, and is caused by mutations in the CYP4V2 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for Doyne honeycomb retinal dystrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 45-47
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Lucia Ziccardi ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Retinal Dystrophy ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Dominant Inheritance ◽  
Doyne Honeycomb Retinal Dystrophy

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Doyne honeycomb retinal dystrophy (DHRD). The disease has an autosomal dominant inheritance and is caused by variations in the EFEMP1 gene. There is insufficient data to establish the prevalence of DHRD. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, fluorescein angiography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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