Congenital Dystrophy of the Epithelial Basement Membrane in a Child. Clinical Case

Corneal dystrophy (CD) is a large group of genetically determined diseases involving one or more corneal layers. It has a progressive course and is not associated with external or systemic factors. However, this definition cannot fully describe all pathologies related to the dystrophic process. For example, epithelial basement membrane dystrophy and François central cloudy dystrophy are degenerative conditions and are not hereditary in most patients. Despite this, epithelial basement membrane dystrophy and François central cloudy dystrophy are included in the modern classification of corneal dystrophies. We present a clinical case of a child with congenital hereditary basement membrane dystrophy (previously known as Kogan microcystic epithelial dystrophy, anterior basement membrane dystrophy, or “fingerprint” dystrophy). The child presented with photophobia and lacrimation from birth. At 5 months of age, the child underwent lacrimal duct probing due to lacrimal duct obstruction, with slight improvement noted. During an anesthetic examination, the biomicroscopic findings were characterized by map-like lines and round intraepithelial microcysts in the optical zone of the right eye and dots in the left eye. In the right eye, the changes were more pronounced, with a delicate cicatricial opacity of the superficial stromal layers resembling a “map” with paralimbal areas of fluorescein staining. Congenital basement membrane dystrophy (CBD) is a condition caused by mutations in the TGFB1 gene on chromosome 5q31 and is one of the most common anterior corneal dystrophies. It occurs in 5 % of the population, typically in the second and third decades of life, and is very rare in children. CBD in children is a slowly progressive, non-inflammatory corneal lesion. It must be differentiated from acute inflammation requiring urgent surgery, lacrimal obstruction, and keratitis. Conservative treatment, including the continued use of keratoprotectors and artificial tears, is sufficient in the initial stage. If conservative therapy is ineffective, therapeutic soft contact lenses, PTK, and lamellar keratoplasty are recommended.

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