Hereditary retinal dystrophies
3. Retinal dystrophies diagnosis
The diagnosis of retinal dystrophies begins with a clinical suspicion by the ophthalmologist, that is, certain signs and symptoms make the doctor think that the patient may suffer from retinal dystrophy.
In some cases, the existence of a family history raises suspicion about the presence of the disease.
An interview will be carried out about the symptoms perceived by the patient and the personal and family history, an eye fundus study, a test to evaluate the visual field, an electroretinogram and, eventually, other tests such as an eye fundus autofluorescence study and an optical coherence tomography (OCT).
The aspects related to the diagnosis through these assessments will be discussed in Chapter 3.
In general, the genetic test is the “gold standard” or confirmatory test for the disease. However, to date, and given the genetic heterogeneity in retinal dystrophies, there are still many patients who do not have this study, their diagnosis being a clinical diagnosis.