Genetics

Genetic diagnosis and counselling at IMO Miranza Group

What is genetic counseling?

Genetic analysis is performed on a blood sample, which is drawn from a patient affected by an inherited eye disease. The objective of this study is to identify the genetic alteration that triggers the pathology.

The objective of genetic analysis is to identify the alteration that causes the disease

What is an inherited disease?

• are transmitted within the same family
• are caused by the alteration of a gene
• can follow different patterns of inheritance

The majority of inherited eye diseases are rare and affect approximately less than 1 in 2,000 people. At IMO Miranza group, we carry out the diagnosis and genetic counseling of more than 45 hereditary diseases that affect vision.

What is genetic diagnosis for?

Genetic diagnosis allows us to:

1. Confirm the clinical diagnosis of the pathology, since some diseases present similar symptoms and / or can be difficult to diagnose.
2. Know how the disease will evolve, since your prognosis may vary depending on the type of genetic alteration.
3. Inform the affected family. To do this, a genetic counseling visit is carried out that aims to identify the most probable inheritance pattern, that is, the way in which the pathology could be transmitted in the family.
4. Alert family members who may be carriers of the disease, as they could transmit it or suffer from it in the future.
5.  Prepare the affected patient for future gene and cell therapies.
6.  Better understand hereditary diseases and identify new responsible genes.

We explain what a genetic diagnosis is for

Should I have a genetic test?

We recommend that you request a genetic study if you meet one of these conditions:

1. In your family medical history there are people with hereditary or recurrent eye diseases.
2. You have been diagnosed with an inherited eye disease.
3. You want to have children and, in your family or in that of your partner, there are cases of hereditary eye diseases.
4. One of your children suffers from a hereditary eye disease

Genetic counseling at IMO Miranza Group

Pioneers in diagnostics and research

IMO Miranza Group Barcelona is the only ophthalmological center in Spain with its own molecular biology laboratory and a pioneer in the genetic diagnosis of hereditary eye diseases. In these facilities we carry out ambitious basic research projects, promoted by the IMO Foundation.

How is a genetic study performed?

Once the ophthalmologist has made the clinical diagnosis, we carry out the genetic study in 5 steps:

1. From  Department of Genetics, we summon the patient to review his family medical history and we draw up a genealogical family tree.
2. We establish the possible inheritance pattern of the disease and determine which genes should be analyzed.
3. We extract a blood or saliva sample from the affected patient:

• We can do it directly at IMO
• The patient can also send us a sample taken at another medical center*

4. We carry out the genetic analysis to identify in which gene the alteration that causes the disease is found.
5.  We inform the patient about the results through a report and a genetic counseling visit.

*In this case, specific steps must be followed because the sample must meet a series of conditions to ensure it arrives in good condition.

More than 30 pathologies, with more than 500 genes involved

These are the hereditary eye diseases for which MOI  Miranza group provides a genetic diagnosis and counseling service:

• Achromatopsia · Ocular albinism · Oculocutaneous albinism · Leber congenital amaurosis · Aniridia · Gyrus atrophy · Autosomal dominant optic atrophy

• Autosomal recessive bestrophinopathy · Blepharophimosis

• Congenital cataract · Congenital stationary night blindness · Choroideremia

• Meesmann's corneal dystrophy · Rod and cone dystrophy · Reticular corneal dystrophy · Cone dystrophy · Sorsby's dystrophy · Fuchs' endothelial dystrophy · Congenital hereditary endothelial dystrophy · AMD (age-related macular degeneration)

• Best's disease · Norrie's disease · Stargardt's disease

• Congenital fibrosis of the extraocular muscles

• Congenital glaucoma · Juvenile glaucoma · Primary open angle glaucoma (familial)

• Microphthalmia

• Nanophthalmia · Leber's hereditary optic neuropathy

• Congenital and acquired ptosis

• Retinoblastoma · Retinitis pigmentosa · Retinoschisis

• Axenfeld-Rieger syndrome · Bardet-Biedl syndrome · Donnai-Barrow syndrome · Joubert syndrome · Marshall syndrome · Rothmund-Thomson syndrome · Senior Loken syndrome · Stickler syndrome · Usher syndrome · Wagner syndrome

• Familial exudative vitreoretinopathy

More information

For more details don´t hesitate to contact us: genetica@imo.es 

Download the Genetic diagnosis and counselling guide.