Link of Video Abstract: https://youtu.be/gC8cCxUUSQc
Background: Scleromalacia perforans is a systemic autoimmune disease such as rheumatoid arthritis, lupus, and Wegener's granulomatosis that may compromise vision and globe integrity. The great challenge to treat disease is determined by the genetic examination. This case report aims to describe a unique case of Scleromalacia perforans in young patient.
Case description: A 19-year-old female with a progressed protrusion of the left eye since she was 1 year old. Six years ago, she had redness, worsen protrusion, photophobia, tearing, and pain, but resolved without treatment. Her cousin had the same condition but refused to continue the examination. Visual acuity of the left eye was no light perception with 4x4 mm of corneal leukoma, and 360 degrees of anterior scleral ectasia covered with conjunctival neovascularization. USG showed posterior vitreous detachment and 28,9 mm axial length. ANA test and HLA B27 were normal, positive hypermobility joint, and Rheumatologists ruled out the possibility of autoimmune disease. Myoconjuctival enucleation was performed with a dermis fatty graft for cosmetics, and histopathological examination showed nonspecific chronic inflammation.
Conclusion: Scleromalacia perforans is a rare case that is strongly believed to have an association with systemic autoimmune disease. Collaboration between ophthalmologists, rheumatologists, and geneticists is essential to manage this case.