DOC, I HAVE BLUE EYES! & BLUE SCLERA: DIFFERENTIAL DIAGNOSIS AND SYSTEMIC ASSOCIATIONS

Introduction. Blue sclera indicates localized or diffuse thinning of the sclera that permits visualization of the underlying bluish choroid. Typically, blue sclera is associated with underlying collagen/skeletal disorders, high urine excretion, or chromosomal disorders. It is essential to differentiate blue sclera from other ocular conditions that present with a blue tint to the sclera. Differential diagnoses include scleromalacia perforans, congenital ocular melanocytosis (naevus of Ota) or sclera thinning secondary to trauma. Case presentation. A twenty nine-year-old black female presents to clinic with a complaint of irritated, burning eyes for the past five years. Clinical examination demonstrated moderate meibomian gland disease, corneal arcus and bilateral blue sclera. Deviation From the Expected. The patient has a positive family history for Osteogenesis Imperfecta. Her younger sister has experienced several bone fractures in the past. However, she reports having no previous bone fractures/injuries and has not been worked up for the condition thus far. Discussion. Osteogenesis Imperfecta has 12 genetic classifications that display either autosomal-dominance or autosomal-recessive patterns of inheritance with a broad spectrum of clinical manifestation from mild to severe. From clinical examination of the patient it is suspected she exhibits the Type I phenotype (mildest form): normal stature, blue sclera, corneal arcus and minimal to no bone deformity. However, the patient was advised to undergo evaluation for the condition to obtain a conclusive diagnosis and classification. Conclusion. It is essential to differentiate true, bilateral blue sclera from separate ocular manifestations of bluish tint to the sclera for appropriate management of the condition. Grants. N/