scholarly journals Genetic testing for non syndromic retinitis pigmentosa

2017 ◽  
Vol 1 (s1) ◽  
pp. 92-95
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Fundus Autofluorescence ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Corrected Visual Acuity ◽  
Recessive Transmission ◽  
Autosomal Recessive Manner

Abstract We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for non syndromic retinitis pigmentosa (NSRP). NSRP is determined by variations in the ABCA4, AGBL5, ARL2BP, ARL6, BBS2, BEST1, C2orf71, C8orf37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF408 and ZNF513 genes. Its overall prevalence is 1 per 4000. It is mostly inherited in an autosomal recessive manner, fewer genes have autosomal dominant or X-linked recessive transmission. Clinical diagnosis is based on clinical findings, ophthalmological examination, best corrected visual acuity (BCVA), slit lamp biomicroscopy, fundus autofluorescence, electroretinography, color vision testing 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 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 Best vitelliform macular dystrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 17-19
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Francesco Viola ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Macular Dystrophy ◽  
Ophthalmological Examination ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Best vitelliform macular dystrophy (BVMD). BVMD is mostly inherited in an autosomal dominant manner (autosomal recessive transmission is rare). The overall prevalence is currently unknown. BVMD is caused by mutations in the BEST1 gene. 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 retinitis punctata albescens/fundus albipunctatus

2017 ◽  
Vol 1 (s1) ◽  
pp. 96-98
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Field Testing ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Visual Field Testing ◽  
Fundus Albipunctatus ◽  
Retinitis Punctata Albescens

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for retinitis punctata albescens/fundus albipunctatus (RPA/FA). RPA and FA are reported to have autosomal dominant or autosomal recessive inheritance and are associated with variations in the PRPH2, RHO, RLBP1 and RDH5 genes. There is insufficient data to establish their prevalence. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, visual field testing and undetectable or severely reduced electroretinogram amplitudes. 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 ocular coloboma

2017 ◽  
Vol 1 (s1) ◽  
pp. 29-31 ◽  
Author(s):  
Andi Abeshi ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Fundus Examination ◽  
Live Births ◽  
Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner associated with variations in the PAX6, ABCB6 and FZD5 genes and in an autosomal recessive manner associated with variations in the SALL2 gene. Overall prevalence is 1 per 100,000 live births. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, fundus 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 Stargardt macular dystrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 105-107 ◽  
Author(s):  
Andi Abeshi ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Field Testing ◽  
Macular Dystrophy ◽  
Ophthalmological Examination ◽  
Visual Field Testing ◽  
Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited in an autosomal recessive manner and rarely in an autosomal dominant manner, with an overall prevalence of 1-5 per 10 000 live births. It is caused by variations in the ABCA4, CNGB3, ELOVL4, PRPH2 and PROM1 genes. Clinical diagnosis is based on ophthalmological examination, fluorescein angiography, electroretinography, visual field testing, optical coherence tomography and color testing. 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 Leber congenital amaurosis

2017 ◽  
Vol 1 (s1) ◽  
pp. 63-65
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Benedetto Falsini ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Ophthalmological Examination ◽  
Leber Congenital Amaurosis ◽  
Live Births ◽  
Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Leber congenital amaurosis (LCA). LCA is mostly inherited in an autosomal recessive manner, rarely in an autosomal dominant manner, with an overall prevalence of 2-3/100,000 live births, and is caused by mutations in the AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, RD3, RDH12, RPE65, RPGRIP1, SPATA7 and TULP1 genes. Clinical diagnosis involves ophthalmological examination and electrophysiological testing (electroretinography - ERG). The genetic test is useful for confirmation of diagnosis, differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for optic atrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 83-85
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Benedetto Falsini ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Live Births ◽  
Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for optic atrophy (OA). OA is mostly inherited in an autosomal dominant manner, rarely in an autosomal recessive manner, with an overall prevalence of 3/100,000 live births. It is caused by mutations in the OPA1, OPA3 and TMEM126A genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, OCT, visual evoked potentials (VEPs) and electroretinography. The genetic test is useful for confirming diagnosis, 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 congenital stationary night blindness

2017 ◽  
Vol 1 (s1) ◽  
pp. 38-40
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Francesco Viola ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Congenital Stationary Night Blindness ◽  
Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for congenital stationary night blindness (CSNB). CSNB is inherited in an autosomal dominant manner in the case of mutations in the GNAT1, PDE6B and RHO genes, in an autosomal recessive manner in the case of mutations in the CABP4, GNB3, GPR179, GRM6, LRIT3, SAG, SLC24A1, TRPM1 and genes and in an X-linked recessive manner in the case of mutations in the CACNA1F and NYX genes. The overall prevalence of CSNB is not known. Clinical diagnosis is based on clinical findings, ophthalmological examination, visual evoked potentials 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 infantile nystagmus

2017 ◽  
Vol 1 (s1) ◽  
pp. 57-59
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Age Of Onset ◽  
Autosomal Recessive Inheritance ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Inheritance ◽  
Infantile Nystagmus

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for infantile nystagmus (IN). Forms of IN associated with variations in CACNA1F, FRMD7 and GPR143 genes have X-linked recessive inheritance, whereas variations in SLC38A8, TYR and TYRP1 genes have an autosomal recessive inheritance and variations in COL11A1, CRYBA1 and PAX6 genes have an autosomal dominant inheritance. The prevalence of all forms of IN is estimated to be 1 in 5000. Clinical diagnosis is based on clinical findings, age of onset, family history, ophthalmological examination, fundoscopy, electroretinography, optical coherence tomography, slit lamp examination and visual evoked potentials. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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