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.òorg
Acromati Italiani onlus


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
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
Referente Scientifico

Rappresentante ERN-EYE e Professore Associato di malattie dell’apparato visivo dell’Università di Ferrara
Dr. Andrea Sodi Firenze Azienda Ospedaliero-Universitaria Careggi CRR Degenerazioni Retiniche Ereditarie

Largo Brambilla, Firenze

Medico Oculista
Dr. Francesca Torricelli Firenze Azienda Ospedaliero-Universitaria Careggi Direttore, SOD Diagnostica genetica

Dr. Roberto Caputo Firenze Azienda Ospedaliero Universitaria Meyer –
Viale Pieraccini 24 50139 Firenze
Direttore Oftalmologia pediatrica
Tel 055 5662526
Dr. Giacomo Maria Bacci Firenze Azienda Ospedaliero Universitaria Meyer –
Viale Pieraccini 24 50139 Firenze
Oftalmologia Genetica
Tel 055 5662900
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
Prof. Luca Buzzonetti Roma Ospedale Pediatrico Bambino Gesù Responsabile U.O.C. di Oculistica Ospedale Pediatrico Bambino Gesù
Dr. Giancarlo Iarossi Roma Ospedale Pediatrico Bambino Gesù Medico Oculista
Lucia Ziccardi MD, PhD Roma Fondazione G. B. Bietti per l’oftalmologia
Via Livenza 3 – 00198 Roma
Ph. 06-85356727
Medico Oculista
Prof. Enzo Maria Vingolo Latina Università di Terracina – UOC Universitaria AUSL Latina Ospedale Santa Maria Goretti Responsabile
Prof.ssa Francesca Simonelli Napoli Dipartimento di Oftalmologia Seconda Università degli Studi di Napoli Direttore Centro Studi Retinopatie Ereditarie
Dr. Cristiana Marchese Torino Azienda Ospedaliera Ordine Mauriziano Torino Genetista Dirigente – S.C. Laboratorio Analisi
Dr. Roberto Giorda Bosisio-Parini LC Istituto Scientifico “Eugenio Medea” Biologo
Dr. Roberto Salati Bosisio-Parini LC Istituto Scientifico “Eugenio Medea” Oftalmologo

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 /
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:
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
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


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
Radboud University Nijmegen Medical Center
Department Human Genetics
Division Genome Diagnostics
Route 848
PO box 9101
6500 HB Nijmegen
The Netherlands
Dr. Maartje Pennings
Accountmanager, lab. scientist
Genome Diagnostics Nijmegen
PO Box 9101
Nijmegen 6500 HB
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
Dr. Luca Benzoni Malnate (VA) Ottica Benzoni – Via Garibaldi 45 – Malnate
Dr. Francesco Ragna Perugia Ottica Ragna – Via Eugubina, 2A, 06122 Perugia