OPHTALMOLOGICAL CHANGES IN THE ALGORITHM OF DIAGNOSIS OF RARE (ORPHAN) DISEASE IN CHILDREN

Abstract

About 5% of newborns are diagnosed with congenital anomalies or hereditary developmental disorders. Rare, or orphan, diseases include any disease that occurs with a frequency of less than one case per two thousand people worldwide. The vast majority (about 80%) of rare diseases have monogenic hereditary nature and are characterized by a chronic relapsing course, insensitivity to therapy, the occurrence of irreversible complications, a decrease in the quality of life and a reduction in life expectancy. The lack of attention to syndromic disorders on the part of other organs and systems is the main reason for untimely referral to a geneticist and late diagnosis, which significantly reduces the patient's chances of recovery even if adequate molecular therapy is prescribed. Depending on the leading symptoms of the hereditary syndrome, the patient is under the supervision of a paediatrician, neurologist, ophthalmologist, cardiologist, other specialists, but first of all, a family doctor providing primary care. The problem lies in the predominant concentration of doctors on those manifestations of the disease that are directly related to their specialization, and the diagnosis is then established in the following plane. The conducted research focuses the attention of healthcare professionals to monogenic hereditary diseases, which have a syndromal picture of the impairment of the visual analyzer. Based on the analysis of the International Statistical Classification of Diseases and Related Health Care Problems of the ICD-10 revision, rare diseases with ophthalmological manifestations have been identified that can contribute to the improvement of the diagnostic algorithm. The material, represented in the tables, should speed up the patient's referral to a geneticist. This approach can be helpful for paediatric and adult ophthalmologists, family doctors, paediatricians, geneticists and other specialties. The aim of this study is to determine the presence of ophthalmic pathology as an indicator of directing the diagnostic algorithm towards rare (orphan) diseases. Material and methods. The study included the methods of statistical, informational, and system-functional analysis of basic computer data. Results: Our analysis of six sections of the ICD-10 revealed that the most frequently observed visual system impairments were associated with rare monogenic diseases featuring metabolic disorders. These diseases included phenylketonuria, Gaucher disease, homocystinuria, Niemann-Pick disease, Fabry disease, Fanconi syndrome, galactosemia, as well as mucopolysaccharidoses of types I to VII (such as Gurler, Gaunter, Sanfilippo, Morquio, Scheille, Maroto-Lamy, Slay syndromes), and other hereditary syndromes. Conclusion. Based on our comprehensive analysis of six sections within the 10th revision of the international statistical classification, we have systematically identified and summarized ophthalmological manifestations associated with a range of rare, primarily monogenic hereditary diseases. These findings can serve as valuable diagnostic tools in the practice of syndromal diagnosis across various medical specialties, facilitating expedited referrals for genetic counseling.