Italian Network for the prevalence study of Blue Cone Monochromacy and Acromatopsia
The Network has been promoted by Prof. Francesca Simonelli with the Patient Associations:
BCM Families Foundation President: Renata Sarnoemail: renata.sarno@bcmfamilies.org | Associazione Acromati Italiani onlus  President: Elisabetta Leonardi Luchettaemail: elisabettaluchetta@libero.it |
| Name | City | Institute | Position | Email/Contacts |
|---|---|---|---|---|
| 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) | Referente Scientifico, Rappresentante ERN-EYE, e Professore Associato di malattie dell’apparato visivo dell’Università di Ferrara | francesco.parmeggiani@unife.it, centrorp.veneto@gmail.com |
| Dr. Andrea Sodi | Firenze | Azienda Ospedaliero-Universitaria Careggi CRR Degenerazioni Retiniche Ereditarie | Medico Oculista, Dirigente Medico di Primo Livello | 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, roberto.caputo@meyer.it, Tel 055 5662526 |
| Dr. Giacomo Maria Bacci | Firenze | Azienda Ospedaliero Universitaria Meyer – Viale Pieraccini 24 50139 Firenze | Oftalmologia Genetica, Dirigente Medico | www.meyer.it, giacomo.bacci@meyer.it, Tel 055 5662900 |
| Prof. Benedetto Falsini | Roma | Università Cattolica del Sacro Cuore – Policlinico Universitario Agostino Gemelli IRCCS | 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, Dirigente Medico | giancarlo.iarossi@libero.it |
| Lucia Ziccardi MD, PhD | Roma | IRCCS Fondazione G. B. Bietti per lo studio e la ricerca in oftalmologia | Medico Oculista | lucia.ziccardi@fondazionebietti.it |
| 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 | francesca.simonelli@unicampania.it |
| Dr. Cristiana Marchese | Torino | Azienda Ospedaliera Ordine Mauriziano Torino | Genetista già 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 |
Documents, Resources, Publication
| 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 |
– CNGA3 – Tubingen – Germany – Gene Therapy clinical study – CNGB3 Gene Therapy Clinical Trial – AAV Gene Therapy. |
DNA testing laboratories for 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.
| Center | Clinical/Research | BCM | ACHR | Contacts | Shipping Address | Special Instructions and Forms | Price | Response Time |
|---|---|---|---|---|---|---|---|---|
| Tuebingen – DE | Research | yes | yes | Dr. Susan Kohl Tel: +49-7071-29-80702 Email: susanne.kohl@uni-tuebingen.de | Dr.Susanne Kohl Molekulargenetisches Labor Universitätsklinikum Tübingen Elfriede-Aulhorn-Str. 5-7 D-72076 Tübingen – Germany | – Consent Form | Free program for BCM | 3 months |
| Careggi – Florence | Clinical | no | yes | 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) | Covered by SSN for Italy | Unknown |
| Nijmegen – NL | Clinical | yes | yes | Erik-Jan Kamsteeg
https://order.radboudumc.nl/en/products/opn1lwopn1mw-blue-cone-monochromacy- https://order.radboudumc.nl/en/products/conditions/vision-impairment-blindness/achromatopsia https://order.radboudumc.nl/en/products/vision-disorders-panel | Dr. Maartje Pennings Accountmanager, lab. scientist Genome Diagnostics Nijmegen PO Box 9101 Nijmegen 6500 HB Netherlands | – Consent Form | Euro 818 for BCM Price for Achromatopsia on the website Price for visual panel on the website | 2 -3 months |
