Abstract
BackgroundTo report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia.Case presentationA 6-year-old Chinese female patient presented with a significant bluish discoloration of the sclera in both eyes and extreme corneal thinning with anterior corneal protrusion. General pediatric physical examination was normal for all systems and no genetic disorders known were observed.ConclusionsWe aim to highlight the importance of diagnosis and treatment of patients suffering from Brittle cornea syndrome. Timely diagnosis and early provision of protective glasses seem to be the most important step in treating BCS. To our knowledge, this is the first case of BCS being reported in the Asia area.
Highlights
To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia
Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disease that characteristically presents with corneal thinning and fragility
As far as we known, this is the first case of BCS reported in the Asia area
Summary
To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia. Diagnosis and early provision of protective glasses seem to be the most important step in treating BCS. To our knowledge, this is the first case of BCS being reported in the Asia area. Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disease that characteristically presents with corneal thinning and fragility. As far as we known, this is the first case of BCS reported in the Asia area. Such molecular analyses were not performed in our case. Nor did present skin or ligament hyperelastic changes as in Ehlers-Danlos syndrome, or changes in stature similar to the Marfan syndrome
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