Italian Network for the prevalence study of Blue Cone Monochromacy and Acromatopsia
The Network has been promoted by Prof. Francesca Simonelli with the Patient Association:
BCM Families email: renata.sarno@bcmfamilies.org |
Acromati Italiani onlus Email:elisabettaluchetta@libero.it |
Oftalmólogos y centros clínicos expertos en BCM
Nombre | Ciudad | Instituto | Rol | Email/Contacto |
Dr. Maria Pia Manitto | Milano | Dipartimento di Oculistica – Ospedale San Raffaele | Responsabile del Servizio di Oftalmologia Pediatrica e del Servizio di Genetica Oculare presso il Dipartimento di Oculistica dell’ Ospedale San Raffaele di Milano | manitto.mariapia@hsr.it |
Dr. Francesco Parmeggiani | Padova | Ospedale Civile di Camposampiero – Via Pietro Cosma 1 Ambulatorio Ipovisione – Retinite Pigmentosa, Unità Operativa di Oculistica (Area Rossa – 8° Piano) tel. 049 9324536 Email: centrorp.veneto@gmail.com |
Referente Scientifico
Rappresentante ERN-EYE e Professore Associato di malattie dell’apparato visivo dell’Università di Ferrara |
francesco.parmeggiani@unife.it |
Dr. Andrea Sodi | Firenze | Azienda Ospedaliero-Universitaria Careggi CRR Degenerazioni Retiniche Ereditarie
Largo Brambilla, Firenze |
Medico Oculista | asodi@tin.it |
Dr. Francesca Torricelli | Firenze | Azienda Ospedaliero-Universitaria Careggi | Direttore, SOD Diagnostica genetica | genetica@aou-careggi.toscana.it
passerinii@aou-careggi.toscana.it |
Dr. Roberto Caputo | Firenze | Azienda Ospedaliero Universitaria Meyer – Viale Pieraccini 24 50139 Firenze |
Direttore Oftalmologia pediatrica | www.meyer.it Tel 055 5662526 roberto.caputo@meyer.it |
Dr. Giacomo Maria Bacci | Firenze | Azienda Ospedaliero Universitaria Meyer – Viale Pieraccini 24 50139 Firenze |
Oftalmologia Genetica | www.meyer.it Tel 055 5662900 giacomo.bacci@meyer.it |
Prof. Benedetto Falsini | Roma | Università Cattolica del Sacro Cuore | Responsabile dell’ambulatorio di degenerazioni retiniche ereditarie, del laboratorio di Neurofisiologia della visione e del centro di Neuroftalmologia pediatrica | bfalsini@rm.unicatt.it bfalsini@gmail.com benedetto.falsini@nih.gov |
Prof. Luca Buzzonetti | Roma | Ospedale Pediatrico Bambino Gesù | Responsabile U.O.C. di Oculistica Ospedale Pediatrico Bambino Gesù | lucabuzzonetti@yahoo.it |
Dr. Giancarlo Iarossi | Roma | Ospedale Pediatrico Bambino Gesù | Medico Oculista | giancarlo.iarossi@libero.it |
Lucia Ziccardi MD, PhD | Roma | Fondazione G. B. Bietti per l’oftalmologia Via Livenza 3 – 00198 Roma Ph. 06-85356727 |
Medico Oculista | luxzic@hotmail.com |
Prof. Enzo Maria Vingolo | Latina | Università di Terracina – UOC Universitaria AUSL Latina Ospedale Santa Maria Goretti | Responsabile | evingolo@libero.it |
Prof.ssa Francesca Simonelli | Napoli | Dipartimento di Oftalmologia Seconda Università degli Studi di Napoli | Direttore Centro Studi Retinopatie Ereditarie | franctes@tin.it |
Dr. Cristiana Marchese | Torino | Azienda Ospedaliera Ordine Mauriziano Torino | Genetista Dirigente – S.C. Laboratorio Analisi | cmarchese@mauriziano.it cristianaalessandra.marchese@gmail.com |
Dr. Roberto Giorda | Bosisio-Parini LC | Istituto Scientifico «Eugenio Medea» | Biologo | roberto.giorda@bp.lnf.it |
Dr. Roberto Salati | Bosisio-Parini LC | Istituto Scientifico «Eugenio Medea» | Oftalmologo | roberto.salati@bp.lnf.it |
Documentos, Recursos, Publicaciones
Blue Cone Monochromacy | Achromatopsia |
– Clinical utility gene card for: Blue Cone Monochromatism
– Dr. C. Marchese, Scheda-Genetica-BCM |
– Clinical utility gene card for: Achromatopsia
– Dr. C. Marchese, Scheda-Genetica-Acromatopsia |
Blue Cone Monochromacy – Gene Therapy | Achromatopsia – Gene Therapy |
–Human Gene Therapy for BCM | -CNGA3 – Tubingen – Germany – Gene Therapy clinical study
-CNGB3 Gene Therapy Clinical Trial – AAV Gene Therapy. -NEI National Eye Institute – CNTF Implants for CNGB3 Achromatopsia. |
Laboratorios de pruebas de ADN para BCM
Common Instructions:
For the DNA test usually a laboratory needs 2×5 ml of venous blood for each individual, drawn in EDTA containers, that should be shipped by courier. Blood samples can be drawn by a local practitioner. For preservation of the blood samples, it is recommended the shipment under cooled conditions. Easiest way for that is to use a regular foam box with some cool packs. Blood samples should not be frozen, therefore please wrap the blood containers in some tissue before adding them to the foam box. Please refer to ‘Special Instruction’ for each lab, you find in the column ‘Special Instruction and Form’ below.
With the blood samples it is usually requested that the following be sent: signed consent forms for each individual, copy of identity documents for each individual, Family’s Pedigree and to fill and sign other forms reported in the column ‘Special Instruction and Form’ below.
Prueba de ADN | Clínica o de Investigación | BCM | ACHR | Nombre de Contacto | Dirección donde enviar | instrucciones y formularios especiales | Precio | Tiempo de respuesta |
Tuebingen – DE | Investigación | si | si | Dr. Susan Kohl Tel +49-7071-29-80702E-mail: susanne.kohl@uni-tuebingen.de |
Dr.Susanne Kohl Molekulargenetisches Labor Universitätsklinikum Tübingen Elfriede-Aulhorn-Str. 5-7 D-72076 Tübingen – Germany |
–Consent Form | NA | 3 meses |
Careggi – Firenze | Clínica | no | si | Dott.ssa Ilaria Passerini Biologo Genetista Tel. +39-055-7949363 Email: passerinii@aou-careggi.toscana.it |
Dott.ssa Ilaria Passerini SOD Diagnostica Genetica AOU Careggi – Piastra Dei Servizi-Padiglione 15 Largo Brambilla, 3 50134, Firenze |
–Careggi Istructions (IT) –Privacy (IT) –Consent Form (IT) –Patient data (IT) |
Paid by SSN | |
MAGI – Rovereto | Clínica | si | si | Dr. Annalisa Nicoletti
Biologo Genetista Ph: +39 0464/662771 Fax: +39 0464/425634 Email: annalisa.nicoletti@assomagi.org |
Dr. Annalisa Nicoletti
MAGI’S Lab S.r.l. – Diagnostics for Rare Genetic Diseases Via delle Maioliche 57/D, 38068 Rovereto (TN) – Italy |
–Instruction (IT) –Patient Form (IT) –Consent Form (IT) |
Paid by SSN | |
Nijmegen – NL | Clínica | si | si | Erik-Jan Kamsteeg Email: Erik-Jan.Kamsteeg@radboudumc.nl Radboud University Nijmegen Medical Center Department Human Genetics Division Genome Diagnostics Route 848 PO box 9101 6500 HB Nijmegen The Netherlands http://www.genomediagnosticsnijmegen.nl |
Dr. Maartje Pennings Accountmanager, lab. scientist Genome Diagnostics Nijmegen PO Box 9101 Nijmegen 6500 HB Netherlands |
–Instructions –Consent Form |
Precio para BCM
Precio para ACHR |
4-6 semanas |
Centros expertos en baja visión y optometristas
Here we report Italian optical centers for people suffering from Achromatopsia and Blue Cone Monochromacy. These centers have specific products, such as colored contact lenses or lenses for children with high myopia, as well as filters and magnifying tools for hypovision.
Dr. Daniele Petrini | Roma | Vision Optika – via del Gambero 11 – Roma | https://www.visionoptika.it/it-schede-16-progettazione_lenti_a_contatto_specialistiche | |
Dr. Luca Benzoni | Malnate (VA) | Ottica Benzoni – Via Garibaldi 45 – Malnate | https://otticabenzoni.it/ | |
Dr. Francesco Ragna | Perugia | Ottica Ragna – Via Eugubina, 2A, 06122 Perugia | http://otticaeoptometriaragna.it |