Italy

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 email: renata.sarno@bcmfamilies.òorg

Acromati Italiani onlus email: elisabettaluchetta@libero.it

 

Ophthalmologists and clinical centers expert in BCM

 

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) 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

Documents, Resources, Publication

Blue Cone Monochromacy	Achromatopsia
– Clinical utility gene card for: Blue Cone Monochromatism – Dr. C. Marchese, Scheda-Genetica-BCM – Clinical Findings in BCM-patients	– Clinical utility gene card for: Achromatopsia – Dr. C. Marchese, Scheda-Genetica-Acromatopsia – Achromatopsia – Gene Review
Blue Cone Monochromacy – Gene Therapy	Achromatopsia – Gene Therapy
–Human Gene Therapy for BCM – Molecular Genetics Project	-CNGA3 – Tubingen – Germany – Gene Therapy clinical study -CNGB3 Gene Therapy Clinical Trial – AAV Gene Therapy. -NEI National Eye Institute – CNTF Implants for CNGB3 Achromatopsia. A CNTF implant was placed into the eye during a simple surgery. The implant releases CNTF inside the eye, near the retina.

 

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.

DNA TEST	Clinical / Research	BCM	ACHR	Contact Name	Address where to ship	Special instructions and Forms	Price	Time for the Answer
Tuebingen – DE	Research	yes	yes	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 months
Careggi – Firenze	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)	Paid by SSN
MAGI – Rovereto	Clinical	yes	yes	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	Clinical	yes	yes	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	Price for BCM Price for ACHR	4-6 weeks

Expert low vision centers and optometrists

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