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Hereditary Retinal Dystrophies

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). 

Why the SJD Barcelona Children's Hospital?

We are a centre of reference in Spain

The SJD Barcelona Children's Hospital is recognised by the National Health System as a national reference centre (CSUR) for the treatment of hereditary retinal dystrophies. Our Retinal Dystrophies Unit is, therefore, the leading unit in Catalonia specialising in the care of these pathologies in children and adults. Every year we treat more than 1,000 patients. 

At the forefront of research and innovative treatments

We are pioneers in the use of gene therapy for the treatment of certain retinal dystrophies, such as Leber's Congenital Amaurosis and some types of retinitis pigmentosa. Based on the use of non-pathological viruses, these treatments enable the retina to re-encode the protein it needs to restore the correct functioning of the visual cycle. They can be performed on patients with viable retinal cells and they allow a certain percentage of sight to be recovered, which varies in each patient. An example of the application is the recent use of gene therapy with voretigene neparvovec (trade name: Luxturna). 

Multidisciplinary care focused on the child and their family

The diagnosis and treatment of hereditary retinal dystrophies require the coordinated work of professionals from various disciplines, such as Ophthalmology and Optometry, Neurophysiology, Genetics, Nursing and the Surgical wing. In addition, the unit enjoys close collaboration with patient associations, which provide the valuable perspectives of patients and their families. The Ophthalmology Department is responsible for coordinating all these professionals.

Coordinated transition to the adult hospital

The SJD Barcelona Children's Hospital is the centre that cares for patients up to 18 years of age. The transition process to the adult hospital starts from the age of 17, following the centre's A10 programme protocol, thus ensuring the continuity of medical care to patients, their education in managing the disease and the psychosocial and administrative management support that is required.

Annual indicators

More than
1,000
patients with annual follow-up
Confirmed clinical diagnoses
90%
of our patients
Confirmed genetic diagnoses
80%
of our patients
New pediatric patients
36
Electrophysiological tests performed
353
2019 data

Pathologies we treat

Hereditary retinal dystrophies are diseases that can be caused by mutations in various genes and, conversely, mutations in a single gene can be responsible for various pathologies. The principal and most prevalent of these are:

Leber congenital amaurosis

Rod-cone dystrophy that appears from birth, causes reduced vision, and is accompanied by nystagmus (involuntary rhythmic oscillation of the eye). We currently perform gene therapy for those cases caused by the RPE65 mutation.

It is not covered by public health

Retinitis pigmentosa

Rod-cone dystrophy causing poor night vision, peripheral field of vision defects, and blurred vision. In addition to diagnosis and follow-up, we treat macular edema and cataracts that can be associated with the disease.

It is not covered by public health

Congenital stationary night blindness

Non-progressive rod dystrophy causing poor night vision and usually presenting with a normal fundus. We perform clinical, genetic and electrophysiological diagnosis.

It is not covered by public health

Achromatopsia (Colour blindness)

Cone dystrophy since birth that causes photophobia, impaired colour vision, poor vision and nystagmus. In addition to performing the clinical, genetic and electrophysiological diagnosis, we monitor the disease.

It is not covered by public health

Cone dystrophy

It is caused by dysfunction of cone photoreceptors, which are responsible for central fine vision, colour vision, and under light conditions. After the clinical, genetic and electrophysiological diagnosis, we monitor the disease.

It is not covered by public health

Stargardt disease

Cone dystrophy that causes progressive deterioration of central vision and is caused by mutations in the ABCA4 gene. We carry out the clinical, genetic and electrophysiological diagnosis, in addition to its subsequent follow-up.

It is not covered by public health

Stickler syndrome

Genetic disease that can be associated with hearing loss and abnormalities in the palate, vitreous and retina. There is a risk of retinal detachment, so we carry out regular check-ups and, in some cases, preventive laser treatment.

It is not covered by public health

X-linked retinoschisis

A genetic disease of the vitreous and retina that affects boys, not girls, with abnormal separation of the layers of the retina and often with abnormalities in the macula. In the most severe cases we perform laser treatment or vitrectomy.

It is not covered by public health

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, a patient with hereditary retinal dystrophy.

SJD Barcelona Children's Hospital healthcare team

University Hospital of Bellvitge's healthcare team

equip-distrofies-hereditaries-retina-hospital-universitari-bellvitge.jpg

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.

Patients' Associations

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.

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