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Andi Abeshi, Alessandra Zulian, Tommaso Beccari, Munis Dundar, Lucia Ziccardi and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for cone rod dystrophies (CORDs). CORDs are caused by variations in the ABCA4, ADAM9, AIPL1, C8orf37, CACNA1F, CACNA2D4, CDHR1, CNGA3, CRX, DRAM2, GUCA1A, GUCY2D, HRG4, KCNV2, PDE6C, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RIMS1, RPGRIP1, RPGR SEMA4A, TTLL5 genes, with an overall prevalence of 1 per 40 000. Most genes have autosomal recessive inheritance; the others have autosomal dominant or X-linked recessive transmission. Clinical diagnosis is based on clinical findings, color vision testing, ophthalmological examination and electroretinography. 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, 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 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.

Open access

Andi Abeshi, Alessandra Zulian, Tommaso Beccari, Munis Dundar, Lucia Ziccardi and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Mendelian cataract (MC). MC is caused by variations in the AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, EPHA2, EYA1, FYCO1, FOXE3, FTL, GALK1, GCNT2, GJA3, GJA8, HSF4, LEMD2, LIM2, LSS, MAF, MIP, NHS, PITX3, PAX6, SIPA1L3, SLC16A12, TDRD7, UNC45B, VIM, VSX, and WFS1 genes. The overall prevalence of congenital forms is 71 per 100 000, whereas there is insufficient data to determine the prevalence of the juvenile and age-related forms. Clinical diagnosis is based on clinical findings, age of onset, family history, ophthalmological examination and slit-lamp examination. 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, Benedetto Falsini and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations in the CNGB3, CNGA3, GNAT2, PDE6C, ATF6 and PDE6H genes. Clinical diagnosis is by ophthalmological examination, color vision testing and electrophysiological testing. Genetic testing 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, Alessandra Zulian and Matteo Bertelli

Abstract

Large-caliber vessels are those with a diameter of 10 mm or more. Most aneurysms remain asymptomatic until they expand or rupture. Aortic aneurysms are of special interest for physicians and scientists because of their prevalence. Aortic aneurysms and dissections account for 1-2% of all deaths in western countries. Expansion and rupture of vascular aneurysms show a strong correlation with hyperlipidemia, hypertension, smoking, sex and age. Heritability estimates have been as high as 70%. 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.

Open access

Andi Abeshi, Alessandra Zulian, 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 Refsum disease. The disease has autosomal recessive inheritance, unknown prevalence, and is caused by variations in PEX7 and PHYH genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, optical coherence tomography and phytanic acid assay. The genetic test is useful for confirming diagnosis, for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Paolo Enrico Maltese, Yeltay Rakhmanov, Alessandra Zulian, Angelantonio Notarangelo and Matteo Bertelli

Abstract

Cystic hygroma (CH) is characterized by abnormal accumulation of fluid in the region of the fetal neck and is a major anomaly associated with aneuploidy. Morphologically characterized by failure of the lymphatic system to communicate with the venous system in the neck, the clinical manifestations of CH depend on its size and location. Incidence is estimated at one case per 6000-16,000 live births. CH has autosomal dominant or autosomal recessive inheritance. 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.

Open access

Andi Abeshi, Alessandra Zulian, Tommaso Beccari, Munis Dundar, Francesco Viola, Elena Garoli, Leonardo Colombo and Matteo Bertelli

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.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Alessandra Zulian, Tommaso Beccari, Munis Dundar and Matteo Bertelli

Abstract

Coarctation of the aorta (CoA) is an inherited narrowing of the proximal descending thoracic aorta. Histological features include localized medial thickening and infolding with superimposed neointimal tissue. CoA is diagnosed by detection of a murmur or hypertension during routine examination. Typical clinical features are delayed or absent femoral pulses and difference in blood pressure between the arm and legs. These symptoms may appear in the first weeks of life or after the neonatal period. CoA accounts for 4-6% of all congenital heart defects and has a reported prevalence of about 4 per 10,000 live births. It is more common in males than females (59% vs 41%). 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.