Pediatric ophthalmology

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SJD Barcelona Children's Hospital

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The five main lines of research of interest to our group place special emphasis on the clinical, phenotypic and genotypic characteristics of paediatric visual disorders as well as on the progression and treatment of these conditions.

The group conducts patient-oriented research and actively collaborates with various other IRSJD research groups.

Research lines

  1. Retinal dystrophies (Principal investigator: Dr Elisa Carreras):
    1. Creation of a joint interhospital unit for retinal dystrophies (Principal investigator: Dr Jaume Català [SJD Barcelona Children's Hospital] and Dr Estefanía Cobos [HUB]).
    2. Evaluation of the clinical and molecular characteristics of retinal dystrophies in children and adolescents. (Dr Jaume Català, Dr Elisa Carreras, Dr Ana Llorca).
    3. Establishing the most appropriate target period for gene therapy in RP65- and CEP290-associated Leber congenital amaurosis (Dr Elisa Carreras).
    4. Use of animal models of intrauterine gene therapy.
  2. Retinoblastoma (Principal investigators: Dr Jaume Català; Dr Genoveva Corretja, Oncology Department of the SJD Barcelona Children's Hospital):
    1. Gene therapy with oncolytic viruses to treat retinoblastoma: Evaluate Safety and the Oncolitic Adenovirus VCN-01 Activity in Patients with Refractory Retinoblastoma (RTB) NCT03284268.
    2. Long-term follow-up of patients with irradiated retinoblastoma. SPT Screening in Irradiated Hereditary Retinoblastoma Survivors. NCT02329002:
    3. Epigenetics of retinoblastoma (in collaboration).
    4. Cognitive assessment of patients with retinoblastoma treated with intra-arterial chemotherapy.
    5. Evaluation of the effect of relaxation and yoga techniques in retinoblastoma patients and their families before, during and after exploration under general anaesthesia.
  3. Neurofibromatosis type 1 (NF-1). Determine whether the use of new technologies, such as optical coherence tomography (OCT), constitutes a predictive marker of visual function in patients with NF-1 (Principal investigator: Carlos Fresno, Diploma in Optics and Optometry).
  4. Amblyopia: Determine what visual parameters influence the causes of amblyopia and how they affect treatment outcomes. Development of new treatments and early diagnosis techniques (Principal investigator: Ana Díaz, Diploma in Optics and Optometry).
  5. Paediatric uveitis: Establish clinical, follow-up and treatment guidelines for juvenile idiopathic arthritis-associated uveitis (Principal investigator: Dr Ana Llorca) and for pars planitis (Principal investigator: Dr Jesús Díaz-Cascajosa) in collaboration with the rheumatology research group at the SJD Barcelona Children's Hospital.

Scientific objectives

Retinal dystrophy:

  1. To establish normal retinal and choroidal layer patterns in the healthy paediatric population.
  2. To establish parameters for early diagnosis, progression studies, participation in gene therapy groups and child-adult transition in retinal dystrophies.
  3. To develop a preclinical model of intrauterine treatment in animals.

Retinoblastoma:

  1. To complete the phase 1 clinical trial with oncolytic viral therapy.
  2. To participate in multicentre trials on treatments with intracameral chemotherapy.
  3. To develop optical biopsy using mass spectrometry in collaboration with The Institute of Photonic Sciences (ICFO).

NF-1:

  1. To establish the correlation between visual acuity (VA) and the number of ganglion cell layers++ (GCL++) between the inner limiting membrane (ILM) and the nerve fibre layer (NFL) both in macula and in the optic nerve (ON).
  2. To establish the correlation between VA and the number of GCL+ in the layer between the NFL and the internal plexiform layer (IPL) both in macula and in the ON.
  3. To evaluate the quality of life of patients with NF-1 (with or without glioma) using the CVFQ-25 questionnaire for children under 8 years and the IVI-C questionnaire for those from 8 to 18 years.
  4. To establish a consultation protocol for the monitoring of patients diagnosed with NF-1.
  5. To establish normal thickness values for the retinal nerve fibre layer (RNFL) in the paediatric population.

Amblyopia:

  1. To establish a correlation between various visual function parameters (contrast sensitivity, aberrations, retinal fixation, retinal correspondence) and visual acuity / visual quality.
  2. To establish a correlation between physiological aspects (macular thickness and retinal vascularisation) and visual acuity / visual quality.
  3. To establish a correlation between various visual function parameters and physiological aspects with amblyopia prognosis and treatment.
  4. To patent and validate alternatives to current treatments (occlusion and treatment) taking into account previous results and how these affect treatment responses.
  5. To develop and classify treatments according to the type of amblyopia.
  6. To determine possible markers for early amblyopia diagnosis.

Uveitis:

  1. To optimise follow-up and treatment guidelines for anterior and posterior uveitis.
  2. To validate anterior segment optical coherence tomography (OCT) for inflammatory diagnosis and monitoring of the anterior and vitreous chambers.
  3. To participate in clinical trials of new drugs for the management of paediatric uveitis.

Area/Field of expertise

The research carried out by our group falls within the scope of the overall research into the clinical, physiological, psychological and therapeutic aspects of different ophthalmological and optometric diseases in children and adolescents.

We are a group of optometrists, ophthalmologists, oncologists, rheumatologists, neurophysiologists, geneticists and biologists, contributing our knowledge from different perspectives in order to maximise the various aspects of our research. Our group has extensive clinical experience in our five research lines in addition to our experience with other research groups carrying out basic and preclinical research programmes. We have incorporated state-of-the-art technology, some developed here in the department, which includes OCT, autofluorescence, retinography and wide-field angiography, optical biometry, Scheimpflug camera, dynamic pupillometry, video oculography and videonystagmography. This allows us to accurately and thoroughly examine different anatomical features and functional aspects of the eye.

We have been working over the past two years on a bench-to-bedside project for a new treatment for retinoblastoma based on oncolytic viral therapy, from the design stage to the preclinical studies, and now embarking on a phase I trial in humans. We have also characterised a new marker to detect retinoblastoma. We have carried out molecular genetic testing in 200 families of patients with retinal dystrophy.

We are now established as a national reference centre for paediatric ophthalmological diseases and have received patients from all over the country (via RCSU) as well as from other countries.

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