Genetics in eye diseases: towards a new model of medicine

Medical content revised by - Last revision 15/04/2019
Genetics in eye diseases: towards a new model of medicine

Times change and we are slowly moving towards precision medicine. In the field of diseases that affect vision, knowledge about its genetic basis has grown exponentially in recent years. Genetic diagnostic tests have undergone a revolution with the techniques of massive sequencing and the possibilities of treatment with gene therapy begin to be an emerging reality.

What is a genetic disease?

It is the disease caused, totally or partially, by an alteration in the normal sequence of DNA. Most genetic diseases are multifactorial, which means that they are caused by a combination of alterations in several genes and various environmental factors.

Are there many vision disorders that have a genetic component?

Yes. On the one hand, it has been shown that in very frequent visual diseases, such as glaucoma (which affects around 65 million people worldwide) or age-related macular degeneration (AMD, which affects about 30 million people around the world), there is a high genetic susceptibility. On the other hand, the number of so-called rare diseases (those that affect less than 1 out of 2,000 inhabitants) known at present is approximately 7,000. Although each of these rare diseases affects a small percentage of the general population, if we add them all, we find that, as a whole, they affect more than 300 million people around the world. And 5% of these rare diseases are genetic disorders that affect vision.

Is it easy to make the genetic diagnosis of these diseases?

The genetic diagnosis of these diseases is not easy. On the one hand, more than 500 genes that can cause vision problems have been described. On the other hand, each of these genes can present different variations (mutations). In addition, as we have already said, most diseases are caused by the interaction of different factors, both genetic and environmental. Therefore the finding of a mutation in one of these genes, by itself, usually is not enough to confirm unambiguously that the patient suffers from a certain disease, but that is only one more piece (a key one though) of the puzzle that we must put together to explain the alteration that the patient suffers.

Is it important to make the genetic diagnosis?

Yes, particularly in cases of rare diseases that affect vision, whose diagnosis represents a special challenge for the doctor who treats the patient. This can be due to the rarity of the disease and because, in many cases, when the patient goes to the consultation room the pathology is in a very advanced state and the ophthalmological findings are not specific to one disorder. Sometimes these represent a situation of tissue atrophy that may have been reached from different origins and caused by different diseases. In these cases, the findings of specific mutations may be the key piece that we lacked in order to confirm the diagnosis.

When we have the confirmation that a patient is a carrier of a certain genetic alteration, we can advise him on changes in his diet or habits that may influence the likelihood of a certain disease manifesting or help change a prognosis.

Some people also want genetic counseling because they consider having biological offspring and, in these cases, it is essential to have confirmation of the genetic diagnosis.

Is there any gene therapy at present for these disorders?

In December of 2017 a milestone was marked in the history of Medicine and, in particular, of Ophthalmology, with the approval by the FDA (Food and Drug Administration) of the first gene therapy administered directly. It is an approved medication for patients with retinal dystrophy associated with the RPE65 mutation. There are also several clinical trials in research for other pathologies, some of them in advanced stages, such as those that are being carried out for Leber Hereditary Optic Neuropathy (LHON).

Related articles

Leber Hereditary Optic Neuropathy

What is Leber Hereditary Optic Neuropathy? Leber Hereditary Optic Neuropathy (LHON), also known as Leber Optic Atrophy, was named after Doctor Theodore Leber, who described in 1871 a characteristic pattern of sudden vision loss in young men with family history of blindness. It is the most common hereditary optic neuropathy, it is caused by a […]

ICR Research Department is carrying out a clinical trial lead by Dr. Castillo with patients affected by LHON

ICR, at the forefront of research Dr Castillo, Head of Neuro-Ophthalmology and Teaching Department at Institut Català de Retina, has initiated, alongside the Research Department, a clinical trial developed by Santhera Pharmaceuticals, for which participants affected by Leber Optic Neuropathy (LHON), older than 12 years old and of all genders, are being recruited. The disease must […]

Genetic risks

Eye diseases with a genetic basis are caused by alterations in genetic code that appear throughout life and cause vision problems affecting to a greater or a lesser degree the patient’s quality of life. Due to its genetic basis, most eye diseases with a genetic component are transmitted from parents to children and may affect […]

Dando a conocer la NOHL, que afecta a jóvenes adultos y produce ceguera

La Dra. Castillo, líder europea en LHON (siglas en inglés de Neuropatía Óptica Hereditaria de Leber), ha sido entrevistada por la plataforma digital Pharmaphorum, donde ha explicado qué es esta enfermedad y por qué es importante conocerla.

Dr. Castillo leads a study in Spain to learn more about the natural history of the LHON

GenSight starts a study to better understand the natural history of Leber’s hereditary optic neuropathy (or LHON) – how visual function evolves, what other symptoms can be associated … -, how genetic and environmental factors are related in the development of the disease and the direct or indirect costs for the patient and family. It is […]

La NOHL, única enfermedad mitocondrial que puede estudiarse “únicamente asomándose al ojo”

Más de 150 asistentes participaron en el encuentro científico dedicado a la Neuropatía Óptica Hereditaria de Leber, celebrado entre el 12 y el 14 de mayo pasados. La NOHL (o LHON, por sus siglas en inglés) es una enfermedad poco habitual que reduce la agudeza visual y que se debe a una alteración genética mitocondrial. […]

Do you have any questions?

Contact us or request an appointment with one of our Orbit and oculoplastics specialists.

Visit us at:

ICR Ganduxer Headquarters

C/ Ganduxer,117
08022 Barcelona See map

ICR Pau Alcover

C/ Pau Alcover 67
08017 Barcelona See map

ICR Cerignola

C/ Cerignola, 14
08022 Barcelona See map

ICR Terrassa

C/ Del Nord, 77
08221 Terrassa See map

ICR Service at Clínica Ntra. Sra. del Remei

C/ de l'Escorial,148
08024 Barcelona See map

Clínica Bonanova Surgical Center

Passeig Bonanova, 22
08022 Barcelona See map

Clinica Bonanova Tests and Treatments

C/ Mandri, 63
08022 Barcelona See map

ICR Ganduxer Headquarters

Telephone number +34 93 378 23 19
Emergencies phone number: +34 93 418 72 27

Opening hours:
Monday to Friday 8 a.m. to 9 p.m.
Saturdays 9 a.m. to 2 p.m.

How to get there More information

ICR Pau Alcover

Telephone number (+34) 93 378 23 19

Opening hours:
Monday to Friday from 8 am to 9 pm. Saturday from 8 am to 2 pm.

How to get there More information

ICR Cerignola

Telephone number +34 93 378 23 19

Opening hours:
Monday to Friday 8 a.m. to 9 p.m.

How to get there More information

ICR Terrassa

Telephone number +34 93 736 34 40

Opening hours:
Monday to Friday from 8:30 a.m. to 2 p.m. and 3 p.m. to 8 p.m.

How to get there More information

ICR Service at Clínica Ntra. Sra. del Remei

Telephone number 902 10 10 50

Opening hours:
Monday to Thursday from 3 p.m. to 8 p.m. and Monday mornings from 8 a.m. to 2 p.m.

How to get there More information

Clínica Bonanova Surgical Center

Telephone number 934 34 09 25

Opening hours:
Monday to Friday from 7:30 a.m. to 8:30 p.m.

How to get there More information

Clinica Bonanova Tests and Treatments

Telephone number +34 93 434 27 70

How to get there More information