1. Added value of newer optical coherence tomography technologies in hyperphosphatemic familial tumoural calcinosis

    Added value of newer optical coherence tomography technologies in hyperphosphatemic familial tumoural calcinosis

    In contrast to dystrophic calcification seen in several rare genetic disorders, such as pseudoxanthoma elasticum, generalized arterial calcification of infancy, and Keutel syndrome, hyperphosphatemic familial tumoural calcinosis (HFTC) is a rare disorder of phosphate metabolism characterized by hyperphosphatemia and primary ectopic or metastatic calcifications in various locations. 1 A recently published review reported eye involvement in 16% of cases having this disorder. 2 Ocular involvement includes calcifications on the eyelids, conjunctiva, and peripheral cornea; optic nerve head drusen (ONHD); and angioid streaks (AS). 3 , 4 , 5 The presence of ONHD and AS in HFTC was first described by Ghanchi et ...

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