Search Results - "Bacci, Giacomo M"

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights by Bacci, Giacomo M., Marziali, Elisa, Bargiacchi, Sara, Paques, Michel, Virgili, Gianni, Fortunato, Pina, Durand, Marine, Rocca, Camilla, Pagliazzi, Angelica, Palazzo, Viviana, Tiberi, Lucia, Vergani, Debora, Landini, Samuela, Peron, Angela, Artuso, Rosangela, Pacini, Bianca, Stabile, Monica, Sodi, Andrea, Caputo, Roberto

“…Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal…”
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Optic nerve involvement in CACNA1F -related disease: observations from a multicentric case series by Marziali, Elisa, Van Den Broeck, Filip, Bargiacchi, Sara, Fortunato, Pina, Caputo, Roberto, Sodi, Andrea, De Zaeytijd, Julie, Murro, Vittoria, Mucciolo, Dario Pasquale, Giorgio, Dario, Passerini, Ilaria, Palazzo, Viviana, Peluso, Francesca, de Baere, Elfride, Zeitz, Christina, Leroy, Bart P, Secci, Jacopo, Bacci, Giacomo M

“…Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or…”
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Long-Term Safety and Efficacy of Tacrolimus 0.1% in Severe Pediatric Vernal Keratoconjunctivitis by Caputo, Roberto, Marziali, Elisa, de Libero, Cinzia, Di Grande, Laura, Danti, Gioia, Virgili, Gianni, Villani, Edoardo, Mori, Francesca, Bacci, Giacomo M., Lucenteforte, Ersilia, Pucci, Neri

“…The aim of this study was to evaluate the safety and efficacy of tacrolimus 0.1% eye drops in a large population of pediatric patients affected by a severe…”
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Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases by Bacci, Giacomo M., Polizzi, Silvio, Mari, Francesco, Conti, Valerio, Caputo, Roberto, Guerrini, Renzo

“…Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by…”
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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations by Dollfus, Hélène, Lilien, Marc R, Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M, Cetiner, Metin, van den Akker, Erica L T, Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F, Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M, Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P, Mosbah, Héléna, Van Eerde, Albertien M, Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana

“…Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl…”
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Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations by Schuart, Claudia, Bassi, Andrea, Kapp, Friedrich, Wieland, Ilse, Pagliazzi, Angelica, Losch, Heike, Mazzatenta, Carlo, Bacci, Giacomo M., Oranges, Teresa, Schanze, Denny, Mohnike, Klaus, Nanda, Arti, Fischer, Judith, Zenker, Martin, Happle, Rudolf

“…Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The…”
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Optical coherence tomography morphology and evolution in cblC disease‐related maculopathy in a case series of very young patients by Bacci, Giacomo M., Donati, Maria A., Pasquini, Elisabetta, Munier, Francis, Cavicchi, Catia, Morrone, Amelia, Sodi, Andrea, Murro, Vittoria, Garcia Segarra, Nuria, Defilippi, Claudio, Bussolin, Leonardo, Caputo, Roberto

“…Purpose To describe the retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused by mutations in the…”
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Interdural cavernous sinus dermoid cyst in a child: case report by Giordano, Flavio, Peri, Giacomo, Bacci, Giacomo M, Basile, Massimo, Guerra, Azzurra, Bergonzini, Patrizia, Buccoliero, Anna Maria, Spacca, Barbara, Iughetti, Lorenzo, Donati, PierArturo, Genitori, Lorenzo

“…Interdural dermoid cysts (DCs) of the cavernous sinus (CS), located between the outer (dural) and inner layer (membranous) of the CS lateral wall, are rare…”
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Long-Term Safety and Efficacy of Tacrolimus 0.1% in Severe Pediatric Vernal Keratoconjunctivitis by Caputo, Roberto, Marziali, Elisa, de Libero, Cinzia, Di Grande, Laura, Danti, Gioia, Virgili, Gianni, Villani, Edoardo, Mori, Francesca, Bacci, Giacomo M., Lucenteforte, Ersilia, Pucci, Neri

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Novel RDH12 sequence variations in Leber congenital amaurosis by Sodi, Andrea, MD, Caputo, Roberto, MD, Passerini, Ilaria, PhD, Maria Bacci, Giacomo, MD, Menchini, Ugo, MD

“…Leber congenital amaurosis (LCA) designates a severe congenital retinal dystrophy generally inherited in an autosomal-recessive manner and accounting for 5% of…”
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Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series by Marziali, Elisa, Van Den Broeck, Filip, Bargiacchi, Sara, Fortunato, Pina, Caputo, Roberto, Sodi, Andrea, De Zaeytijd, Julie, Murro, Vittoria, Mucciolo, Dario Pasquale, Giorgio, Dario, Passerini, Ilaria, Palazzo, Viviana, Peluso, Francesca, de Baere, Elfride, Zeitz, Christina, Leroy, Bart P., Secci, Jacopo, Bacci, Giacomo M.

“…Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or…”
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