Italie

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
BCM Blue Cone Monochromacyemail
: renata.sarno@bcmfamilies.org
Acromati Italiani onlus
acromatopsiaemail: elisabettaluchetta@libero.it

 

ophtalmologistes et centres cliniques experts en BCM

Nom Ville Institut Rôle Email/Contact
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, ressources, publications

 

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.

 

Laboratoires de tests ADN pour 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.

TEST ADN
Clinique ou de
Recherche
BCM ACHR Nom du contact
Addresse où espédier
Instructions et formulaires spéciaux Prix Délai de réponse
Tuebingen – DE Recherche oui oui 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 mois
Careggi – Firenze Clinique no oui 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 Clinique oui oui 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 Clinique oui oui 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
Prix pour BCM

Prix pour ACHR

4-6 semaines

Centres experts en basse vision et optométristes

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