Generalized retinal dystrophy [237 genes]

Generalized retinal dystrophies are those that can cause extensive damage to the retina. They are a heterogeneous group of diseases, where we find some that exclusively affect the fundus of the eye, compromising different aspects of vision, as well as other syndromic diseases with their extraocular characteristics.

Inheritance patterns are varied and the clinical presentation is highly variable between entities, and even within the same disease, both between families that share the altered gene, and even between individuals in a family who suffer from the same mutation.

Given the suspected diagnosis of retinal dystrophy with non-exclusively macular involvement but with doubts regarding the specific disease, it would be indicated to request the Generalized retinal dystrophies panel, compared to the more global panel of Retinal dystrophies and differential diagnosis because it is more cost-efficient. The more specific the clinical diagnosis, the more likely it will be to reach a conclusive genetic diagnosis in this context.

Service of great clinical use to reach a diagnosis, transfer prognostic information based on the information available in the literature, and even recommend targeted therapies within a clinical trial.

Service indicated when after evaluation by an expert ophthalmologist, there is a high suspicion of hereditary retinal dystrophy, not being possible to make a specific diagnosis based on clinical data.