Call for collaborations from academia and industry
This content is not under ERN-EYE responsibility*
Academic and ERN-EYE announcements
RARB Natural History Study
Contacts: Valerie Chu and Dr. Jacques Michaud
Institution: CHU Sainte-Justine, Canada
Description: RARB-related disorder, also known as MCOPS12, is caused by pathogenic variants in the RARB gene. This condition is characterized by developmental eye defects (including microphthalmia and coloboma), other congenital anomalies (including diaphragmatic hernia and heart defects), and global developmental delay with dystonia.
Collaboration Request: The team is recruiting individuals with this condition in their natural history study. Individuals of any age, from any country, carrying pathogenic or likely pathogenic variants in RARB are eligible. Fetal and deceased cases are also eligible. Please see the attached file for more information and please do not hesitate to contact us.
Email: valerie.chu.hsj@ssss.gouv.qc.ca
Association of ABCA4 macular dystrophy and NF1 – disease burden
Contact: Dr Adela Chirita-Emandi
Institution: Emergency Clinical Municipal Hospital Timisoara, Romania
Description: ABCA4 Retinopathies are the most common cause of juvenile macular dystrophy. Furthermore, NF1 is one of the most common autosomal dominant disorders. Both disorders have ophthalmologic implications. People with both ABCA4 Retinopathies and NF1 (3 individuals in Romania) may have increased disease burden.
Study questions: In individuals with both ABCA4 Retinopathies and NF1
• What is the quality of life (general and vision specific)?
• What is the age range at which the visual acuity decreased?
• What are the associated comorbidities?
• Does ophthalmological surveillance in NF1 result in early detection of ABCA4 Retinopathies?
Collaboration Request: Dr Chirita-Emandi seeks to connect with ERN-EYE members who may have people in their care with both diseases (Neurofibromatosis 1 and ABCA4 Retinopathies), as she would like to understand the burden for the patients and their families.
Email: adela.chirita@umft.ro
CNV in BEST disease in pediatric population
Contact: Dr Giacomo Bacci
Institution: AOU Careggi–AOU Meyer Consortium in Florence, Italy
Description: During the last two years, we collected a series of pediatric cases with molecularly confirmed BEST disease where the presenting symptom was unilateral CNV that suddenly decreased central visual function in all patients: we promptly treated it (with off-label procedure, of course) with a single intravitreal injection of Ranibizumab and started a functional and structural follow up to verify the response: we noticed that, although structural OCT seemed to worsen over time, visual function, conversely, raised up progressively following a strict patching rehabilitation protocol on the good eye. After almost two years of follow up, no retreatment was necessary and visual function recovered to the same level of the fellow eye and some cases recovered also a high degree of stereopsis. Since CNV in BEST disease is well known to occur in pediatric population, we would like to underline the importance of rehabilitation and functional follow up together with a structural monitoring that, if used as isolated device, sometimes can mislead to unnecessary retreatment.
Collaboration Request: As members of ERN-EYE network, we would like to share our case series with any of you that noticed a similar course in order to give more strength to our observation in an ERN-EYE perspective. We think a cooperative effort with same or similar approach to this complication and, specifically, rehabilitation in pediatrics will increase the power of the observation and demonstrate usefulness of ERN-EYE cooperation.
Email: giacomo.bacci@meyer.it
Industrial announcements
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Disclaimer
*This page contains announcements on initiatives and activities related to rare eye diseases but not part of the ERN-EYE roadmap. The information shown on this page has been provided by ERN-EYE members or organisations with no professional relationship with ERN-EYE.
ERN-EYE is not responsible or liable in any manner for any content posted on this page. Although all announcement have to be approved for posting by the ERN-EYE Coordinating Committee prior to posting, ERN-EYE declines any responsibility or liability for the accuracy, content, completeness of the information contained.