Search

Your search keyword '"DE CRECCHIO, GIUSEPPE"' showing total 205 results
Start Over Author "DE CRECCHIO, GIUSEPPE"
205 results on '"DE CRECCHIO, GIUSEPPE"'

17. Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant

Author

D'Esposito, Fabiana, Cennamo, Gilda, De Crecchio, Giuseppe, Maltese, Paolo Enrico, Cecchin, Stefano, Bertelli, Matteo, Ziccardi, Lucia, Esposito Veneruso, Paolo, Magli, Adriano, Cennamo, Giovanni, Cordeiro, Maria Francesca, D'Esposito, Fabiana, Cennamo, Gilda, De Crecchio, Giuseppe, Maltese, Paolo Enrico, Cecchin, Stefano, Bertelli, Matteo, Ziccardi, Lucia, Esposito Veneruso, Paolo, Magli, Adriano, Cennamo, Giovanni, and Cordeiro, Maria Francesca

Subjects
Adult, Male, CRX, Visual Acuity, Cyclic Nucleotide-Gated Cation Channels, Multimodal Imaging, Retina, Cellular and Molecular Neuroscience, Retinal Dystrophies, Electroretinography, Humans, Inherited retinal dystrophie, Child, Preschool, Night Vision, Homeodomain Proteins, Inherited retinal dystrophies, Cone-rod dystrophy, Sensory Systems, Optical coherence tomography angiography, Ophthalmology, Phenotype, Child, Preschool, Trans-Activators, Female, Sensory System, Multimodal imaging
Abstract

To characterize by multimodal approach the phenotype of patients from a 3 generations pedigree, affected by autosomal dominant cone-rod dystrophy (CRD), found to carry a novel pathogenic variant in the cone-rod homeobox-containing (CRX) gene.Examination of the adult patients included the following tests: visual acuity, multicolour imaging, spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and OCT angiography (OCT-A) recordings. In a 2.5-year-old child, cycloplegic refraction, fundoscopy, ocular motility evaluation and electrophysiological exams were performed. Next Generation Sequencing of patients' DNA has been carried out.A novel CRX pathogenic variant has been identified in our patients. The 2.5-year-old child in the third generation was found to have inherited the variant, with no clinical signs of the condition, but electroretinographic abnormalities in the scotopic component. In the adult patients, diffuse atrophy of the retinal pigment epithelium/photoreceptor complex in the macular region was evident at the OCT and FAF, while OCT-A showed choriocapillaris density reduction.Multimodal study allowed the characterization of a peculiar form of CRD. The novel pathogenic variant seems to have a different effect on the phenotype if compared with a previously described similar one, giving an insight into the pathogenic mechanism of CRX-related retinal dystrophies and offering valuable information that could lead to the development of possible future therapies.

Published
2018

23. Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

Author

D’Esposito, Fabiana, primary, Randazzo, Viviana, additional, Cennamo, Gilda, additional, Centore, Nicola, additional, Maltese, Paolo Enrico, additional, Malesci, Rita, additional, D’Andrea, Luca, additional, Bertelli, Matteo, additional, Marciano, Elio, additional, de Crecchio, Giuseppe, additional, Pioppo, Antonino, additional, Magli, Adriano, additional, and Cordeiro, Maria Francesca, additional

Published
2019
Full Text
View/download PDF

29. Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant

Author

D’Esposito, Fabiana, primary, Cennamo, Gilda, additional, de Crecchio, Giuseppe, additional, Maltese, Paolo Enrico, additional, Cecchin, Stefano, additional, Bertelli, Matteo, additional, Ziccardi, Lucia, additional, Esposito Veneruso, Paolo, additional, Magli, Adriano, additional, Cennamo, Giovanni, additional, and Cordeiro, Maria Francesca, additional

Published
2018
Full Text
View/download PDF

31. Novel USH1Ghomozygous variant underlying USH2-like phenotype of Usher syndrome

Author

D’Esposito, Fabiana, Randazzo, Viviana, Cennamo, Gilda, Centore, Nicola, Maltese, Paolo Enrico, Malesci, Rita, D’Andrea, Luca, Bertelli, Matteo, Marciano, Elio, de Crecchio, Giuseppe, Pioppo, Antonino, Magli, Adriano, and Cordeiro, Maria Francesca

Abstract

Purpose: Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1Ggene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction.Methods: A 26-year-old female patient with profound congenital sensorineural hearing loss, nyctalopia and retinitis pigmentosa was studied. Audiometric, vestibular and ophthalmologic examination was performed. A panel of 13 genes was tested by next-generation sequencing (NGS).Results: While the hearing loss was confirmed to be profound, the vestibular function resulted normal. Although typical retinitis pigmentosa was present, the age at onset was unusually late for USH1 syndrome. A novel homozygous missense variation (c.1187T>A, p.Leu396Gln) in the USH1Ggene has been identified as causing the disease in our patient.Conclusions: Genetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes.

Published
2021
Full Text
View/download PDF

36. The Relationship between Macular Pigment and Vessel Density in Patients with Type 1 Diabetes Mellitus.

Author

Cennamo, Gilda, Lanni, Vittoria, Abbate, Rosa, Velotti, Nunzio, Fossataro, Federica, Sparnelli, Federica, Romano, Mario R., de Crecchio, Giuseppe, and Cennamo, Giovanni

Subjects
DIABETIC retinopathy, EYE
Abstract

Aim: Macular pigment density and microvascular density on optical coherence tomography angiography (OCTA) were measured in a cohort of type 1 diabetes mellitus (T1DM) patients with retinopathy in the attempt to shed light on the pathophysiology of this condition. Methods: Eighty-two consecutive eyes of 59 patients with diabetic retinopathy examined at the Eye Clinic of the University of Naples Federico II from November 2016 to April 2017 were enrolled in this prospective study. Eighty normal eyes of 40 age-matched subjects without diabetes mellitus, without a history of glaucoma or evidence of intraocular surgery, and without retinal pathologic features constituted the control group. All patients and controls underwent a complete ophthalmic examination, best corrected visual acuity evaluation according to the ETDRS visual logMAR scale, measurement of intraocular pressure, OCTA, and evaluation of macular pigment. Results: There were no significant age differences between patients and controls. Both macular pigment measurements and vessel density measured by OCTA were significantly lower in patients than in controls. A moderate correlation was found between vessel density in all ETDRS sectors and macular pigment parameters. Conclusions: There was a reduction in macular pigment and in OCTA vessel density in T1DM patients with retinopathy, which may have prognostic value in determining disease progression. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

37. La retinopatia miopica

Author

DE CRECCHIO, GIUSEPPE, Bonavolonta, Califano, Cennamo, Iengo, Marciano, and DE CRECCHIO, Giuseppe

Published
2012

38. Semeotica oculare stumentale

Author

DE CRECCHIO, GIUSEPPE, Cennamo Gl, Bonavolonta, Califano, Cennamo, Iengo, Marciano, DE CRECCHIO, Giuseppe, and Cennamo, Gl

Published
2012

40. Semeiotica oculare strumentale

Author

DE CRECCHIO, GIUSEPPE, Gilda Cennamo, BONAVOLONTÀ - CALIFANO - CENNAMO - IENGO - MARCIANO, DE CRECCHIO, Giuseppe, Cennamo, Gilda, and Gilda, Cennamo

Published
2011

41. Reply to Chhablani

Author

Forte, R., Cennamo, G. L., Finelli, M., Farese, E., D'Amico, G., Nicoletti, G., DE CRECCHIO, GIUSEPPE, G. , Cennamo, Forte, R., Cennamo, G. L., Finelli, M., Farese, E., D'Amico, G., Nicoletti, G., DE CRECCHIO, Giuseppe, and Cennamo, G.

Subjects
medicine.medical_specialty, Intravitreal triamcinolone, genetic structures, business.industry, Macular oedema, eye diseases, law.invention, Ophthalmology, Randomized controlled trial, Diabetic macular oedema, law, Correspondence, medicine, sense organs, Macular thickening, Intravitreal bevacizumab, business, After treatment
Abstract

Sir, We thank Dr Chhablani1 for his interest in our article2; we evaluated diffuse diabetic macular oedema and obtained good functional and anatomic results during a follow-up of 12 months after treatment with intravitreal bevacizumab, when compared with the combination of intravitreal triamcinolone and laser photocoagulation. We agree that intravitreal bevacizumab lacks in large randomized controlled trials and could be used in case of gross macular oedema in order to reduce macular thickening, followed by laser photocoagulation. The latter remains indeed the gold standard for diabetic macular oedema.

Published
2010

42. ['Three branches' retinal vein occlusion]

Author

Nicoletti G, Di Leva V, DE CRECCHIO, GIUSEPPE, Nicoletti, G, Di Leva, V, and DE CRECCHIO, Giuseppe

Subjects
Male, Retinal Vein Occlusion, Vision Disorders, Humans, Retinal Hemorrhage, Middle Aged, Follow-Up Studies, Papilledema, Retinoscopy
Published
2010

43. Anatomia e fisiologia del vitreo

Author

DE CRECCHIO, GIUSEPPE, Forte R, Montagnani S, Zeppa L., Balacco Gabrieli Corrado, DE CRECCHIO, Giuseppe, Forte, R, Montagnani, S, and Zeppa, L.

Published
2008

44. Anatomia topografica per il distacco di retina

Author

DE CRECCHIO, GIUSEPPE, MONTAGNANI, STEFANIA, G. Cennamo, L. Zeppa, Marco Borgioli, Antonio Rapisarda, Giovanni Scorcia, Giorgio Tassinari , Lucio Zeppa, DE CRECCHIO, Giuseppe, Cennamo, G., Montagnani, S., Zeppa, L., de Crecchio, G., Cennamo, Gilda, C. Balacco Gabrieli, Montagnani, Stefania, G., Cennamo, and L., Zeppa

Subjects
Retina Distacco di retina Anatomia dell'occhio
Abstract

Si tratta di una descrizione dell'anatomia e della microanatomia retinica alla luce delle più moderne ricerche, con ampio spazio alle recenti possibilità in diagnostica morfofunzionale

Published
2008

47. Congenital retinal macrovessels: a 'low visual acuity' case report with a 14-year follow-up

Author

DE CRECCHIO, GIUSEPPE, Pacente L, Alfieri MC, Pignalosa G, Greco GM, DE CRECCHIO, Giuseppe, Pacente, L, Alfieri, Mc, Pignalosa, G, and Greco, Gm

Subjects
Retinal Diseases, Fundus Oculi, Retinal Artery, Child, Preschool, Visual Acuity, Humans, Female, Fluorescein Angiography, Retinal Vein, Follow-Up Studies
Abstract

We report a rare case of congenital retinal macrovessel with decreased visual acuity, with a 14-year follow-up. Both the clinical findings and the visual acuity remained unchanged throughout the follow-up period.

Published
1999

50. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Author

de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P, Cennamo G, Cesarano I, Vecchio EC, Reibaldi M, DE CRECCHIO, GIUSEPPE, de Crecchio, G, Simonelli, F, Nunziata, G, Mazzeo, S, Greco, Gm, Rinaldi, E, Ventruto, V, Ciccodicola, A, Miano, Mg, Testa, F, Curci, A, D'Urso, M, Rinaldi, Mm, Cavaliere, Ml, Castelluccio, P, Cennamo, G, Cesarano, I, Vecchio, Ec, Reibaldi, M, DE CRECCHIO, Giuseppe, DE CRECCHIO, G, Simonelli, Francesca, Testa, Francesco, and CASTELLUCCIO P., Related

Subjects
Adult, Family Health, Genetics, FZD4, Autosomal recessive inheritance, familial exudative vitreoretinopathy, FEVR, inheritance, Genetic heterogeneity, Vitreoretinopathy, Proliferative, Inheritance (genetic algorithm), Genes, Recessive, Biology, medicine.disease, Genetic determinism, Nuclear Family, Pedigree, Genetic Heterogeneity, Familial exudative vitreoretinopathy, medicine, Humans, Female, Child, Genetics (clinical)
Abstract

Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.

Published
1998

Catalog

Books, media, physical & digital resources
See catalog results