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1. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Published
2024
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6. Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

Author

Frecer, Vladimir, Iarossi, Giancarlo, Salvetti, Anna Paola, Maltese, Paolo Enrico, Delledonne, Giulia, Oldani, Marta, Staurenghi, Giovanni, Falsini, Benedetto, Minnella, Angelo Maria, Ziccardi, Lucia, Magli, Adriano, Colombo, Leonardo, D’Esposito, Fabiana, Miertus, Jan, Viola, Francesco, Attanasio, Marcella, Maggio, Emilia, and Bertelli, Matteo

Published
2019
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7. Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging

Author

Arrigoni, Filippo, primary, Rombetto, Luca, additional, Redaelli, Daniela, additional, Mancarella, Giorgio, additional, Polenghi, Francesco, additional, Salati, Roberto, additional, Romaniello, Romina, additional, Peruzzo, Denis, additional, Bianchi, Paolo Emilio, additional, Piozzi, Elena, additional, Mazza, Marco, additional, and Magli, Adriano, additional

Published
2022
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10. Postnatal microcephaly and retinal involvement expand the phenotype ofRPL10‐related disorder

Author

Cappuccio, Gerarda, primary, De Bernardi, Margherita Lucia, additional, Morlando, Alessia, additional, Peduto, Cristina, additional, Scala, Iris, additional, Pinelli, Michele, additional, Bellacchio, Emanuele, additional, Gallo, Flavio Gioele, additional, Magli, Adriano, additional, Plaitano, Carmen, additional, Serrano, Mercedes, additional, Pías, Leticia, additional, Català, Jaume, additional, Bolasell, Mercè, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Zanni, Ginevra, additional, and Brunetti‐Pierri, Nicola, additional

Published
2022
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15. Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder.

Author

Cappuccio, Gerarda, De Bernardi, Margherita Lucia, Morlando, Alessia, Peduto, Cristina, Scala, Iris, Pinelli, Michele, Bellacchio, Emanuele, Gallo, Flavio Gioele, Magli, Adriano, Plaitano, Carmen, Serrano, Mercedes, Pías, Leticia, Català, Jaume, Bolasell, Mercè, Torella, Annalaura, Nigro, Vincenzo, Zanni, Ginevra, and Brunetti‐Pierri, Nicola

Abstract

Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X‐linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenital anomalies. Among 15 individuals with RPL10‐related disorder reported so far, only one patient had retinitis pigmentosa and microcephaly was observed in approximately half of the cases. By exome sequencing, three Italian and one Spanish male children, from three independent families, were found to carry the same hemizygous novel missense variant p.(Arg32Leu) in RPL10, inherited by their unaffected mother in all cases. The variant, not reported in gnomAD, is located in the 28S rRNA binding region, affecting an evolutionary conserved residue and predicted to disrupt the salt‐bridge between Arg32 and Asp28. In addition to features consistent with RPL10‐related disorder, all four boys had retinal degeneration and postnatal microcephaly. Pathogenic variants in genes responsible for inherited retinal degenerations were ruled out in all the probands. A novel missense RPL10 variant was detected in four probands with a recurrent phenotype including ID, dysmorphic features, progressive postnatal microcephaly, and retinal anomalies. The presented individuals suggest that retinopathy and postnatal microcephaly are clinical clues of RPL10‐related disorder, and at least the retinal defect might be more specific for the p.(Arg32Leu) RPL10 variant, suggesting a specific genotype/phenotype correlation. [ABSTRACT FROM AUTHOR]

Published
2022
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21. Long-Term Effects of Botulinum Toxin in Large-Angle Infantile Esotropia

Author

Gallo,Flavio Gioele, Plaitano,Carmen, Esposito Veneruso,Paolo, and Magli,Adriano

Subjects
Clinical Ophthalmology
Abstract

Flavio Gioele Gallo,1 Carmen Plaitano,2 Paolo Esposito Veneruso,3 Adriano Magli1 1Department of Medicine and Surgery, University of Salerno, Salerno, Italy; 2Department of Ophthalmology, A.O.U. San Giovanni Di Dio e Ruggi d’Aragona-Scuola Medica Salernitana, Salerno, Italy; 3Division of Ophthalmology, University Hospital “Federico II”, Naples, ItalyCorrespondence: Flavio Gioele GalloDepartment of Medicine and Surgery, University of Salerno, Via Salvador Allende, 43, Baronissi, Salerno 84081, ItalyTel +39 3898535899Email gallo.flavio.gioele@gmail.comPurpose: The purpose of this study is the motor outcome analysis of early Botulinum toxin (BT) treatment in patients affected by large-angle infantile esotropia (IE).Patients and Methods: Retrospective analysis of 130 medical charts of IE patients who underwent BT injections between 2004 and 2019 was performed. All patients underwent BT injections within 13 months of age.Results: Thirty patients, matching the inclusion criteria, were included in the study. Twenty-eight patients showing residual ET ≥ 25 PD (34.3± 6.6 PD ranged from 25 to 50) underwent surgery.Conclusion: Our result after 1 Botulinum toxin injection showed a very low success rate (6.7%) at last follow-up (28.3± 7.2 months). Our data would suggest one Botulinum toxin injection in children affected by large-angle infantile esotropia allows a significant reduction of deviation but does not avoid the need for surgical treatment.Keywords: strabismus, pediatric, congenital

Published
2020

22. Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

Author

Iarossi, Giancarlo, primary, Marino, Valerio, additional, Maltese, Paolo Enrico, additional, Colombo, Leonardo, additional, D’Esposito, Fabiana, additional, Manara, Elena, additional, Dhuli, Kristjana, additional, Modarelli, Antonio Mattia, additional, Cennamo, Gilda, additional, Magli, Adriano, additional, Dell’Orco, Daniele, additional, and Bertelli, Matteo, additional

Published
2020
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28. AUTHORSʼ REPLY

Author

Magli, Adriano and Carelli, Roberta

Published
2010

29. 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

32. MOESM2 of Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

Author

Frecer, Vladimir, Iarossi, Giancarlo, Salvetti, Anna, Maltese, Paolo, Delledonne, Giulia, Oldani, Marta, Staurenghi, Giovanni, Falsini, Benedetto, Minnella, Angelo, Ziccardi, Lucia, Magli, Adriano, Colombo, Leonardo, D’Esposito, Fabiana, Miertus, Jan, Viola, Francesco, Attanasio, Marcella, Maggio, Emilia, and Bertelli, Matteo

Subjects
genetic structures, sense organs, eye diseases
Abstract

Additional file 2. Figure S1-P4: Right eye five-year follow-up in a 22-year-old patient carrying a p.Val9Gly variant in BEST1. SD-OCT scans and corresponding FAF through the fovea and vitelliform deposit at baseline (A, B and C) and 5 years later (D, E and F). After 5 years the patient showed a “vitelliruptive” stage with irregular FAF signal (D), elongation of the outer segments under the fovea (E) and a thin neurosensory retinal detachment surrounding the lipofuscin deposit (E, F). Fundus photograph of the posterior pole at the last follow-up (G). Figure S2-P4: Left eye five-year follow-up of the same patient. At baseline a “pseudohypopyon” stage is clearly visible in FAF (A) and OCT scans (B, C). Serous detachment of the neurosensory retina is visible in the upper macula with decreased FAF levels (Fig. 2B). In the bottom row of images, the yellow vitelliform material is evident by FAF. Five years later, there was reduction of the serous detachment and contraction of the deposit (“vitelliruptive” stage). Irregular FAF signal (D), preserved elongation of photoreceptors (E, F) and fundus photograph of posterior pole in “vitelliruptive” stage (G). Figure S3-P17: FAF images of Best’s maculopathy patient (P17) (A), showing a lesion consisting of a circular hyperautofluorescent parafoveal circle with an annular hypofluorescent ring enclosing a second inner hyperautofluorescent ring and a hypoautofluorescent central spot (tip of the dome). The infrared images show hyperreflective foveal changes more visible in the LE (B bottom). The corresponding SD-OCT scans in both eyes (C) show subfoveal hyperreflective lipofuscin deposits at RPE level, surrounded by thin neurosensory retinal detachment, more prominent in the LE. The photoreceptor layer, partially intact in the RE and with slight disruption in the LE, is displaced on top of the lesion. In the LE tiny microcystic spaces subtending inner-layer retinal splitting can also be observed. Figure S4-P18: FAF (A, C) and OCT scans (B, D) of a 46-year-old patient carrying a p.Asn179Asp variant in BEST1. Idiopathic choroidal folds and central accumulation of hyperautofluorescent lipofuscin is evident in both eyes. The right eye is in “pseudohypopyon” stage, as suggested by the neurosensory retinal detachment, while the left eye is still in “vitelliform” stage. Figure S5-P19: FAF and OCT scans of a 13-year-old girl with a Trp182Arg variant in BEST1, showing bilateral vitelliform lesions at pseudohypopyon stage in both eyes. OCT scans show subfoveal hyperreflective lipofuscin deposits at RPE level, surrounded by thin neurosensory retinal detachment. Figure S6-P31: Patient 31 (P31), a 9-year-old boy, showing fundus ophthalmoscope evidence of bilateral circular yellowish yolk-like lesions in the macular area (D). The lesions are symmetrically hyperautofluorescent with a nasal hypoautofluorescent sickle visible by FAF (A). At the same location in IR images, there is a circular area of hyporeflectivity matching the lipofuscin deposit at sub-RPE level with consequent reorganization of the IS-OS junction layer on top of the dome, as seen also in OCT scans (C). Preservation of the photoreceptor layer is also confirmed by adaptive optical images, showing cone mosaic structure in the RE (E), where the lesion appears elevated but with a normal arrangement of cones on top of it. In fact, intact bright cones can be seen across the central 6 degree eccentricity around the fovea, as well as a circular dark ring of shadow delineating the contour line of the lesion, where faint, still resolvable cones seem mechanically distorted.

Published
2019
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36. 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
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37. Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Author

Paine, Ingrid, primary, Posey, Jennifer E., additional, Grochowski, Christopher M., additional, Jhangiani, Shalini N., additional, Rosenheck, Sarah, additional, Kleyner, Robert, additional, Marmorale, Taylor, additional, Yoon, Margaret, additional, Wang, Kai, additional, Robison, Reid, additional, Cappuccio, Gerarda, additional, Pinelli, Michele, additional, Magli, Adriano, additional, Coban Akdemir, Zeynep, additional, Hui, Joannie, additional, Yeung, Wai Lan, additional, Wong, Bibiana K.Y., additional, Ortega, Lucia, additional, Bekheirnia, Mir Reza, additional, Bierhals, Tatjana, additional, Hempel, Maja, additional, Johannsen, Jessika, additional, Santer, René, additional, Aktas, Dilek, additional, Alikasifoglu, Mehmet, additional, Bozdogan, Sevcan, additional, Aydin, Hatip, additional, Karaca, Ender, additional, Bayram, Yavuz, additional, Ityel, Hadas, additional, Dorschner, Michael, additional, White, Janson J., additional, Wilichowski, Ekkehard, additional, Wortmann, Saskia B., additional, Casella, Erasmo B., additional, Kitajima, Joao Paulo, additional, Kok, Fernando, additional, Monteiro, Fabiola, additional, Muzny, Donna M., additional, Bamshad, Michael, additional, Gibbs, Richard A., additional, Sutton, V. Reid, additional, Van Esch, Hilde, additional, Brunetti-Pierri, Nicola, additional, Hildebrandt, Friedhelm, additional, Brautbar, Ariel, additional, Van den Veyver, Ignatia B., additional, Glass, Ian, additional, Lessel, Davor, additional, Lyon, Gholson J., additional, and Lupski, James R., additional

Published
2019
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38. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

Author

Engle, Elizabeth C, McIntosh, Nathalie, Yamada, Koki, Lee, Bjorn A, Johnson, Roger, O'Keefe, Michael, Letson, Robert, London, Arnold, Ballard, Evan, Ruttum, Mark, Matsumoto, Naomichi, Saito, Nakamichi, Louise Z Collins, Mary, Morris, Lisa, Monte, Del Monte, Magli, Adriano, and de Berardinis, Teresa

Published
2002
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42. Clinical and surgical data of affected members of a classic CFEOM 1 family

Author

D'Esposito Fabiana, de Berardinis Teresa, Magli Adriano, and Gagliardi Vincenzo

Subjects
congenital fibrosis, extraocular muscles, CFEOM, ptosis, Ophthalmology, RE1-994
Abstract

Abstract Background Congenital fibiosis of the extraocular muscles (CFEOM1) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOM1 family. Methods Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in this study. Each affected family member underwent ophthalmologic (corrected visual acuity, pupillary function, anterior segment and fundus examination), orthoptic (cover test, cover-uncover test, prism alternate cover test), and preoperative examinations. Eight of the ten affected members had surgery and underwent postoperative examinations. Surgical procedures are listed. Results All affected members were born with varying degrees of bilateral ptosis and ophthalmoplegia with both eyes fixed in a hypotropic position (classic CFEOM). The affected members clinical data prior to surgery, surgery procedures and postoperative outcomes are presented. On 14 operated eyes to correct ptosis there was an improvement in 12 eyes. In addition, the head position improved in all patients. Conclusions Surgery is effective at improving ptosis in the majority of patients with classic CFEOM. However, the surgical approach should be individualized to each patient, as inherited CFEOM exhibits variable expressivity and the clinical features may differ markedly between affected individuals, even within the same family.

Published
2003
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43. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

Author

Saito Nakamichi, Matsumoto Naomichi, Ruttum Mark, Ballard Evan, London Arnold, Letson Robert, O'Keefe Michael, Johnson Roger, Lee Bjorn A, Yamada Koki, McIntosh Nathalie, Engle Elizabeth C, Collins Mary, Morris Lisa, Monte Monte, Magli Adriano, and de Berardinis Teresa

Subjects
Genetics, QH426-470
Abstract

Abstract Background To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are characterized by congenital restrictive ophthalmoplegia affecting muscles in the oculomotor and trochlear nerve distribution. Individuals with the classic form of CFEOM are born with bilateral ptosis and infraducted globes. When all affected members of a family have classic CFEOM, we classify the family as a CFEOM1 pedigree. We have previously determined that a CFEOM1 gene maps to the FEOM1 locus on chromosome 12cen. We now identify additional pedigrees with CFEOM1 to determine if the disorder is genetically heterogeneous and, if so, if any affected members of CFEOM1 pedigrees or sporadic cases of classic CFEOM harbor mutations in ARIX, the CFEOM2 disease gene. Results Eleven new CFEOM1 pedigrees were identified. All demonstrated autosomal dominant inheritance, and nine were consistent with linkage to FEOM1. Two small CFEOM1 families were not linked to FEOM1, and both were consistent with linkage to FEOM3. We screened two CFEOM1 families consistent with linkage to FEOM2 and 5 sporadic individuals with classic CFEOM and did not detect ARIX mutations. Conclusions The phenotype of two small CFEOM1 families does not map to FEOM1, establishing genetic heterogeneity for this disorder. These two families may harbor mutations in the FEOM3 gene, as their phenotype is consistent with linkage to this locus. Thus far, we have not identified ARIX mutations in any affected members of CFEOM1 pedigrees or in any sporadic cases of classic CFEOM.

Published
2002
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45. A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors

Author

Marino, Valerio, primary, Dal Cortivo, Giuditta, additional, Oppici, Elisa, additional, Maltese, Paolo Enrico, additional, D’Esposito, Fabiana, additional, Manara, Elena, additional, Ziccardi, Lucia, additional, Falsini, Benedetto, additional, Magli, Adriano, additional, Bertelli, Matteo, additional, and Dell’Orco, Daniele, additional

Published
2018
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46. 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
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47. 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
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50. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Abstract

To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).

Published
2024
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