Hematology researchers are embarking on the world’s first collaborative natural history study on congenital plasminogen deficiency – and ophthalmologists have a critical role to play
Amy Shapiro | | Longer Read
Congenital plasminogen deficiency (C-PLGD) is an ultra-rare genetic disorder characterized by the development of fibrinous pseudomembranes on mucous membranes throughout the body (1). While patients can develop lesions on the skin, respiratory tract, central nervous system, oropharynx and gingiva, middle ear, and renal collecting system, one of the most common presentations of the disease – affecting approximately 80 percent of patients – is ligneous conjunctivitis (LC). When left untreated, LC can result in visual impairment or blindness (2). Presentation of visual symptoms typically results in ophthalmologists being the first clinicians to evaluate and potentially diagnose patients at symptom onset (see Figure 1).
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