Fotoreseptorite

Fotoreseptorite is a rare, progressive disorder that affects the photoreceptor cells of the retina. It is characterized by a gradual loss of visual acuity, increased sensitivity to light, and episodes of photopsia, the perception of flashing or flickering lights. In many patients, night vision is impaired, leading to difficulties navigating low‑light environments.

The condition is believed to result from inherited mutations in genes essential for the normal function of rod and cone photoreceptors. Genetic linkage studies have identified four loci, with most cases associated with mutations in the RHO gene, which encodes rhodopsin, a protein crucial for rod photoreceptor function. Environmental factors such as prolonged UV exposure may exacerbate disease progression, although no definitive causal relationship has been established.

Diagnosis of fotoreseptorite is typically made through comprehensive ophthalmologic examination, including visual field testing, optical coherence tomography, and electroretinography, which reveals reduced rod and cone responses. Genetic testing can confirm specific mutations and help differentiate it from other retinal dystrophies.

Current management is largely supportive. Vitamin A supplementation may slow disease progression in early stages, though evidence is limited. Emerging gene‑replacement therapies have shown promise in pre‑clinical studies, offering potential for future disease modification. Regular monitoring for retinal changes and low‑vision rehabilitation support patients’ quality of life.

Epidemiological data indicate that fotoreseptorite affects fewer than one in a million individuals, with a slight predominance in populations carrying the RHO mutation. The disease typically presents during adolescence or early adulthood and progresses over several decades. While no cure exists, research into targeted gene therapies and neuroprotective agents remains active, aiming to preserve photoreceptor function and improve visual outcomes.