Rare ophthalmology diseases

Abstract

Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis, and treatment may assist primary care physicians in referring high-risk patients for comprehensive ophthalmological examination and for a more active involvement in their care. Moreover, a significant percentage of these orphan diseases do not have treatment approved by the FDA. The examination and monitoring of patients with rare ophthalmological disorders represents a key component of an ongoing project at the University Emergency Hospital, Bucharest, Romania - Ophthalmology Clinic. Rare disease registries are leading tools for the development of clinical research for rare diseases, improvement of patient access to new diagnostic methods, follow-up and new emerging therapies. As of this moment, the European list of rare diseases includes 53 ophthalmological diseases, which are classified as rare diseases and another 103 systemic diseases with ophthalmological involvement, out of a total of 7000 rare diseases.

Keywords: FDA; disease; ocular; orphan; pathology; rare; registries; systemic; treatment.