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Munis Dundar, Kevan M. A. Gartland and Tommaso Beccari

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Munis Dundar, Kevan M.A. Gartland and Peter B. Gahan

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Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Fabiana D’Esposito and Matteo Bertelli

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.

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Andi Abeshi, Pamela Coppola, Tommaso Beccari, Munis Dundar, Fabiana D’Esposito and Matteo Bertelli

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.

Open access

Andi Abeshi, Carla Marinelli, Tommaso Beccari, Munis Dundar, Fabiana D’Esposito and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for enhanced S-cone syndrome (ESCS). The disease has autosomal recessive inheritance, a prevalence of less than one per million, and is caused by mutations in the NR2E3 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, 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.

Open access

Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Leonardo Colombo and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN genes. Prevalence is estimated to be 1:30,000. Clinical diagnosis is based on audiogram, vestibular tests, visual acuity test, fundus examination, color test, 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.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Stefano Paolacci, Francesca Fanelli, Tommaso Beccari, Munis Dundar and Matteo Bertelli

Abstract

Atrioventricular septal defect (AVSD) is a congenital heart defect characterized by a shared atrioventricular junction coexisting with deficient atrioventricular septation. The main morphological characteristic of AVSD is a common atrioventricular canal. The prevalence of AVSD is estimated at 0.31/1000 live births and is higher among subjects with PTPN11 mutations. ASD may have autosomal dominant or autosomal recessive inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Fabiana D’Esposito and Matteo Bertelli

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.

Open access

Andi Abeshi, Alessandra Zulian, Tommaso Beccari, Munis Dundar, Leonardo Colombo and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Senior- Loken syndrome (SLSN). SLSN is inherited in an autosomal recessive manner, has a prevalence of one in a million, and is caused by variations in CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1 and WDR19 genes. Clinical diagnosis is based on kidney (urine analysis, abdominal ultrasound, kidney function) and eye assessment (visual acuity test, fundus examination, refraction defects, color testing and electroretinography). The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Francesca Fanelli, Tommaso Beccari, Munis Dundar and Matteo Bertelli

Abstract

Ventricular septal defects (VSDs) are the commonest heart malformations and may affect the membranous or the muscular septum. Clinical presentation depends on the amount of interventricular flow, which is determined by the size of the defect and the relative resistances of the pulmonary and systemic vascular beds. The prevalence of VSD is estimated at about 5% among infants. Many small malformations present at birth may later undergo spontaneous closure. VSD may have autosomal dominant or autosomal recessive inheritance and may exist as isolated forms or as part of a syndrome. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.