Cone and rod retinal dystrophy usually has a strong genetic factor and develops within a few weeks after birth, although the form and age of onset of the first symptoms are highly variable between patients. Symptoms include nystagmus (involuntary eye movement) and photodysphoria (high sensitivity to light).
From an ophthalmic perspective, it is a serious eye disease, as it progressively leads to total blindness, usually in adolescence. However, the symptoms, in many cases systemic, go much further, as most patients develop progressive bilateral neurosensory loss of varying intensity, multiorgan fibrosis, obesity, hyperinsulinemia and risk of heart failure.
There is no curative treatment, so the therapeutic objective is based on improving symptoms. As it is a process that affects many organs, it usually involves different specialists who must work in a coordinated manner, including the paediatrician, family doctor, ophthalmologist, endocrinologist, otolaryngologist and cardiologist.
The facial features of these patients are unmistakable: sunken eyes, round face, pronounced ears, premature frontal balding and thinning hair. Most children have broad, thick, flat feet, with short, thick fingers and toes, without polydactyly or syndactyly. Slowly progressive nephropathies, liver dysfunction, chronic respiratory diseases, hypertriglyceridaemia and hypertension are common. Most patients show normal intelligence, although some reports indicate delays in psychomotor and intellectual development.