Keratomalacia in osteogenesis imperfecta (case report)

Purpose: Osteogenesis imperfecta (OI) is a rare genetic disorder that results in alterations in the quality of type 1 collagen. It represents a heterogeneous group of conditions with a typical disruption of bone metabolism, leading to bone fragility, deformity and frequent fractures, as well as other extraskeletal deformities, including ocular complications. Case: We present a case study of a 3-year-old boy with the most severe form of Type II Osteogenesis Imperfecta. A potential mechanism for the development of keratomalacia in relation to the underlying condition is discussed and specified. Additionally, treatment management from an ophthalmological perspective is described. Conclusion: Keratomalacia represents the thinning, weakening, and deformation of corneal tissue. It can be part of the manifestation of Osteogenesis Imperfecta, posing a risk of Descemet's membrane rupture and corneal ulceration. This results in a significant decline in visual acuity, substantially impacting the quality of life. Given the severity of potential complications, a patient with OI poses a therapeutic challenge and requires a multidisciplinary approach. (author)