Features of the ophthalmological phenotype in hereditary orphan kidney diseases in children. Part 1

    Abstract

    Original article

    Features of the ophthalmological phenotype in hereditary orphan kidney diseases in children. Part 1

    E.A. Romanova, N.D. Savenkova, V.V. Brzheskiy, A.Yu. Baranov

    Saint Petersburg State Pediatric Medical University, Saint Petersburg, Russian Federation

    Pathology of the visual organ is often detected in hereditary kidney diseases. The period of organogenesis of both the visual analyzer and the kidneys covers the fourth to sixth week of gestation.

    Therefore, embryogenesis disorders during this period can cause anatomical and functional abnormalities in both organs at once.

    Ophthalmological examination is an accessible, non-invasive method that can help in the diagnosis of syndromes with combined pathology of the eyes and kidneys. In domestic and foreign literature, published works on the assessment of the frequency and nature of pathology of the visual organ in children with hereditary orphan kidney diseases are rare. In the first part of our review, we will analyze the features of the ophthalmological phenotype in such hereditary syndromes as Renal-Coloboma, Schuurs-Hoeijmakers, Lowe, Dent 2, Pierson, Fraser and CHARGE, characterized by combined pathology of the organ of vision and kidneys.

    Keywords: Renal-Coloboma syndrome, Schuurs-Hoeijmakers syndrome, Lowe syndrome, Dent 2 disease, Pierson syndrome, Fraser syndrome, CHARGE syndrome

    For citation: Romanova E.A, Savenkova N.D., Brzheskiy V.V., Baranov A. Yu. Features of the ophthalmological phenotype in hereditary orphan kidney diseases in children. Part 1. Rossiyskaya detskaya oftalmologiya. 2025;4(54): 49–57. https://doi.org/10.25276/2307-6658-2025-4-49-57

    Corresponding author: Elena A. Romanova elenaromanova19911609@gmail.com