1. Corneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV

    Corneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV

    Mucolipidosis type IV (MPS-IV, OMIM #252650), a lysosomal storage disorder caused by dysfunctional mucolipin-1, is characterized by neurologic and visual impairment, developmental delay, and achlorhydria. MCOLN1 gene mutation identification is diagnostic but requires clinical suspicion. The latter is challenging, however, because most systemic and ocular findings are nonspecific and rarely evolve simultaneously. 1 Bilateral corneal clouding is the earliest hallmark sign of MPS-IV. Unlike in other metabolic causes of corneal opacification, it is owing to preferential accumulation of abnormal material in the corneal epithelium as opposed to other corneal layers. 1 Slit-lamp recognition of isolated epitheliopathy however is difficult owing ...

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