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Call center 93 253 21 00

Monday to Sunday, from 8 a.m. to 8:30 p.m.

Private Care - International Patients +34 93 600 97 83

Monday to Friday, from 8 a.m. to 7 p.m.

SJD Barcelona Children´s Hospital

Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat

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Un oftalmólogo pediátrico explora la vista de una paciente con distrofia de retina en el Hospital Sant Joan de Déu Barcelona

We are a national reference centre for the diagnosis and treatment of children with these eye diseases of genetic origin.

The Hereditary Retinal Dystrophies Unit is a joint unit made up of the Ophthalmology departments at the SJD Barcelona Children's Hospital and University Hospital of Bellvitge. At the SJD Barcelona Children's Hospital, we focus on the care, diagnosis and treatment of children affected by these eye diseases which are caused by genetic mutations. Once they reach adulthood, they continue their follow-up at Bellvitge University Hospital, a centre of reference for the diagnosis and treatment of retinal dystrophies in adults. 

Our unit is multidisciplinary in nature, with the intervention of professionals from Ophthalmology, Neurophysiology, Genetic and Molecular Medicine, Optometry, Nursing and technical staff from the operating theatre.

We firmly believe in the fundamental role that patients and their families play in managing the disease, which is why we include patient associations as part of the Unit's team. 

What are hereditary retinal dystrophies?

They are a heterogeneous group of diseases of the vitreous, retina or choroid caused by mutations in more than 270 genes. More than 30 types of retinal dystrophies have been described and, in some cases, they can cause progressive loss of sight

Despite their low incidence of 1 per 3,000 inhabitants, and the fact that they are included within minority diseases, they represent the leading cause of sight loss in childhood

These are hereditary diseases that pass from parents to children, the most common being those in which both the father and the mother are carriers of the mutation (autosomal recessive inheritance). For this reason, it is essential to have an experienced Clinical and Molecular Genetics team like the one in our unit to carry out an early diagnosis.

In addition, up to 30% of cases are associated with non-ophthalmological diseases or syndromes, such as Usher syndrome (which is associated with deafness), Bardet-Biedl disease (which presents with polydactyly, mental retardation, obesity and hypogonadism), and Alström syndrome (associated with deafness, obesity, diabetes, mental retardation, cardiac disorders, kidney and liver failure and pulmonary fibrosis). 

Accreditations

The SJD Barcelona Children's Hospital  is a CSUR national reference center for the treatment of hereditary retinal dystrophies.

Why SJD Barcelona Children's Hospital?

We are a centre of reference in Spain

Every year we treat more than 1,000 patients.

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At the forefront of research and innovative treatments

We are pioneers in the use of gene therapy.

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Multidisciplinary care focused on the child and their family

We coordinate the work of professionals from various disciplines

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Coordinated transition to the adult hospital

We have the A10 program, pioneer of transition of the pediatric patient.

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Indicators

+
1.000

Patients with annual follow-up

90
%

 Confirmed clinical diagnoses of our patients

80
%

Confirmed genetic diagnoses

36

New pediatric patients

353

Electrophysiological tests performed

2019 data

Specialities and services

Our professionals

Jesús Díaz Cascajosa
Paediatric ophthalmologist
Marina Barraso Rodrigo
Paediatric ophthalmologist
Elisabet Fuster Galbany
Pediatric nurse
Itziar Alonso Colmenero
Clinical neurophysiologist
Juana Rodríguez Gómez
Neurophysiology

University Hospital of Bellvitge's healthcare team

Equipo asistencial de la Unidad de Distrofias de Retina del Hospital Universitari de Bellvitge

In the picture from left to right:

  • Pere Garcia-Bru, from the Medical Retina and Surgery Department.
  • Rahul Morwani, from the Medical Retina and Surgery Department.
  • Juan Francisco Santamaria, from the Medical Retina and Surgery Department.
  • Daniel Lorenzo, from the Medical Retina and Surgery Department.
  • Estefanía Cobos, Coordinator of the Retinal Dystrophies Unit.
  • Josep Maria Caminal, Head of the Ophthalmology Department.
  • Lluís Arias, Section Head of the Ophthalmology Department.
  • Mercè Badia, Optometrist specialising in electrophysiology.
  • David Megías, Optometrist specialising in reduced vision.

And Anna Esteve Garcia, Genetic Counsellor at the University Hospital of Bellvitge.

Research and clinical trials

New therapeutic options for the diagnosis and treatment of hereditary retinal dystrophies are continually opening up thanks to studies and clinical trials. Our unit's research is patient-oriented, and it is one of the essential lines of the Pediatric Ophthalmology group of the Institut de Recerca Sant Joan de Déu.

Teaching activities

SJD Barcelona Children's Hospital is a university hospital affiliated with the Universitat de Barcelona, and so we share our knowledge and train around 30 national and international residents every year so they can specialise in high-complexity medicine. 

Our unit also welcomes students from the Master's in Pediatric Ophthalmology at the Universitat de Barcelona to the SJD Barcelona Children's Hospital in 3-month rotations.

Finally, our professionals are part of the Ophthalmology faculty of the School of Medicine at the Universitat de Barcelona.

Patient stories

“For Llara it has meant a radical change. Before at night she could only see what was a meter away from a point of light, everything else was black for her. She now she can see even the stars in the sky”

Natividad mother of Llara, patient with hereditary retinal dystrophy