Ocular Manifestations Of A Family With Marfan's Syndrome And Osteogenesis Imperfecta

To report a case series of a Filipino family with ocular manifestations of Marfan syndrome and osteogenesis imperfecta.

The cases were seen at the Department of Health Eye Center, a tertiary eye center and the National Referral Center for Eye Care in the Philippines.

A family of five sought consultation at our Eye Center for blurred vision, with the father diagnosed with Marfan syndrome and the mother with osteogenesis imperfecta. The father presented with phacodonesis, pathologic myopia in the right eye, and phthisis in the left eye. The mother exhibited blue sclerae, conjunctivochalasis, and hyperopic astigmatism. All three sons, aged 30, 27, and 22, were found to have blue sclerae, superior ectopia lentis, and lattice degeneration. All underwent 360-degree retinal barrier laser treatment. The second son had lens coloboma in both eyes, pathologic myopia, and lenticular astigmatism. The third son exhibited lenticular astigmatism. Corneal tomography revealed corneal thinning without keratoconus in the second son, and keratoconus in the right eye of the third son. No surgical interventions have been performed to date; however, special considerations are being made regarding the integrity of the bluish sclera for potential scleral-fixated intraocular lens implantation for the sons.

This case series highlights the varied manifestations of ocular symptoms in patients with Marfan Syndrome and Osteogenesis Imperfecta, particularly in a family with multiple affected members. The presence of vision-threatening features underscore the need for early diagnosis and tailored management. Active monitoring is critical for tracking the progression of symptoms, particularly the risk of further lens subluxation and retinal detachment. Attention to the integrity of the sclera is also crucial for planning appropriate surgical interventions, such as scleral-fixated intraocular lens implantation.