• Griffin Bryant, Peyton Moore, and Mohanakrishnan Sathyamoorthy.
• Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine, Texas Christian University, Fort Worth, TX 76109, USA.
• Medicina (Kaunas). 2024 Jun 13; 60 (6).

AbstractKeratoconus is a bilateral ocular condition characterized by irregularities and the thinning of the cornea. Decreased central corneal thickness is a hallmark of the condition, and numerous genes have played a role in altering corneal thickness and the subsequent development of keratoconus. Variants in the structural and regulatory genes of the extracellular matrix have been highly associated with keratoconus, as well as with pectus excavatum, a chest wall deformity commonly seen in connective tissue disorders. This report describes a patient with a c.1720-11T>A intronic variant in the collagen-encoding gene, COL5A1, who was diagnosed with early-onset keratoconus and demonstrated a significant pectus excavatum. This report associates a COL5A1 variant with these seemingly unrelated phenotypic associations, further advancing the literature on the topic.

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