November 30, 2021
Today we talk about hereditary retinal dystrophies and the ophthalmologist José Costa mentions the warning signs in paediatric age:
Hereditary dystrophies are a heterogeneous group of rare inherited diseases that affect the retina, which is the part of the eye fundus responsible for transmitting observed images to our brain.
There are several signs and symptoms of retinal dystrophy that can appear at any age, but they usually appear in paediatric age. Therefore, it is common for children with these diseases to be assessed by doctors of various specialities, including ophthalmologists, to be correctly diagnosed.
In pre-verbal children, the absence of visual behaviour, i.e. the child cannot fixate or follow objects, or the presence of involuntary eye movements, called nystagmus, are important warning signs.
Visual difficulty in low light conditions, also called night blindness, is very characteristic of these diseases. In an infant, this is translated by agitation or crying when in low light environments and with a tendency to fixate on light sources. In older children, teenagers or young adults there are frequent complaints of difficulties in the transition from bright to darker environments and vice versa. These cases may also be associated with a decrease in peripheral vision. The progressive decrease of visual acuity, which is not fully corrected by wearing glasses, is also an important sign of the presence of retinal dystrophies.
Sensitivity and intolerance to light and difficulty in recognising colours may also appear in these cases. These disorders are, in most cases, slowly progressive and difficult to diagnose in the early stages, so it is important that doctors, parents and educators are informed in order to detect them early.
This means not only watching for changes in visual behaviour, but also being aware of extraocular conditions that can arise in some retinal dystrophies, such as deafness, developmental delay, obesity or even kidney disease. The great majority of retinal dystrophies unfortunately have no treatment. But a correct diagnosis allows a more personalised follow-up, allowing affected children to better adapt to a future that will certainly include visual impairment.
This follow-up must be done by differentiated ophthalmologists to include the prescription of glasses or other technical aids that allow the maximisation of the visual function. Genetic testing to confirm the diagnosis and better understand the prognosis, is directed to reference centres where clinical trials or treatments are underway.
Tomorrow we'll talk about training in ophthalmology.
With the support of the Portuguese Society of Ophthalmology.
