Features of the ophthalmological phenotype in hereditary orphan kidney diseases in children. Part 2

    Abstract

    Lecture

    Features of the ophthalmological phenotype in hereditary orphan kidney diseases in children. Part 2

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

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

    In the second part of our review, ophthalmological phenotypes in such hereditary orphan syndromes as Cornelia de Lange, Wilson, Goldenhar, Senior-Loken, Alstrom, Alagille, characterized by combined pathology of the visual organ and kidneys, will be analyzed.

    In these syndromes, a severe renal phenotype is observed with a high risk of progression to chronic kidney disease in patients in childhood.

    Literature data indicate heterogeneity of the ophthalmological phenotype in these syndromes: pathology of the eyelids, extraocular muscles, fibrous and vascular membranes of the eyeball, retina, optic nerve, and lens is diagnosed.

    Ophthalmological pathology detected at an early age often allows one to suspect the presence of the abovementioned orphan diseases, which facilitates molecular genetic research with the identification of specific gene mutations.

    Keywords: Cornelia de Lange, Wilson, Goldenhar, SeniorLoken syndrome

    For citation: Romanova E.A., Savenkova N.D., Brzheskii V.V., Baranov A.Yu. Features of the ophthalmological phenotype in hereditary orphan kidney diseases in children. Part 2. Rossiyskaya detskaya oftalmologiya. 2026;1(55): 48–56.

    DOI: 10.25276/2307-6658- 2026-1-48-56

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