Клинические случаи ранней офтальмологической диагностики септо-оптической дисплазии

Abstract

Identification of a genetic variant of a hereditary disease of the visual organ is necessary not only to determine the features of clinical manifestations and course of the disease, but also to carry out preventive measures to prevent the birth of a sick child. Therefore, the identification of ophthalmopathology requires a mandatory assessment of the condition of the patient's body as a whole. The article presents two clinical cases of ophthalmological diagnosis of septo-optic dysplasia. It is a clinically heterogeneous condition representing a combination of hypoplasia of the optic nerves, pituitary hypoplasia and abnormal formation of structures along the midline of the brain. The diagnosis is established in the presence of two or more signs of the classical triad. Hypoplasia of the optic nerves leads to decreased vision, amblyopia. Violation of the hypothalamic-pituitary system requires hormone replacement therapy. The prognosis of mental development depends on central nervous system abnormalities, if any, mental retardation occurs. The first clinical case: a boy R., 11 months old, was directed by a neurologist due to the presence of a pendulum-like nystagmus, hypoplasia of the optic nerves of both eyes, uneven caliber and convoluted course of retinal vessels were also revealed upon examination. The lag in physical and neuropsychic development drew attention to itself. To clarify the diagnosis, the child was recommended to perform an MRI of the head, which revealed aplasia of the septum pellucidum. Septo-optic dysplasia was diagnosed on the basis of the revealed disorders. The second patient, a girl, 2 days old, was referred to an ophthalmologist by a neurologist, the absence of a septum pellucidum was revealed on the neurosonogram, hypoplasia of the optic nerves and tortuosity of the retinal vessels were found on examination of the fundus. Septo-optic dysplasia was diagnosed. Thanks to the early detection of this severe hereditary pathology, timely maintenance and replacement therapy by a neurologist and endocrinologist, and observation by a geneticist, it is possible not only to prevent complications of the disease itself, but also to prevent the re-birth of a sick child in the family. Keyword: septo-optic dysplasia; hypoplasia of the optic nerves; aplasia of the septum pellucidum