Evaluation of ocular and genetic findings in patients with Neurofibromatosis Type 1

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disease affecting multiple organ systems and showing many different clinical symptoms. The severity of the disease varies from person to person and progresses gradually over the years. In this study, 17 NF1 patients who had a definite diagnosis were evaluated in terms of genetic, ophthalmological, and nervous system investigations. Approximately 5000 patients who visited medical genetics clinic between 2012 and 2022 are recorded in our archive. In 17 of these patients, a definitive genetic diagnosis was made. In the course of the study, the researchers collected some clinical parameters such as antenatal, intrapartum, and postpartum history and family history. In the family history, the researchers did a detailed pedigree with at least 3 generations of analysis, questioned parental kinship, looked for similar members in families, and identified inheritance patterns of the disorder. Peripheral venous blood samples were taken from the patients and sent to a commercial laboratory for gene panels or WES while the karyotyping was carried out in our laboratory. After obtaining the definitive genetic diagnosis of all patients, we compiled a table with the other parameters we questioned. This study presented the genotype and phenotype findings of NF1 patients. Ophthalmological symptoms in patients were also examined. These new-generation genetic disease diagnosis methods can be routinely used in clinical practice by medical geneticists. The diagnosis of a disease is one step ahead of its treatment. Because if the necessary diagnosis is not made, treatment of the disease is not possible. While this situation was more difficult in the past, nowadays, with the developing technology, diseases can be diagnosed more easily. In NF1 disease, more information can be obtained as a result of genetics, imaging, and examinations of other branches.