Osteoporosis Pseudoglioma (OPPG) is characterized by severe juvenile-onset
osteoporosis and ocular abnormalities. It is caused by one of several inactivating mutations in LRP5, a gene importantly involved in bone formation. The objective of this study was to evaluate the efficacy of
teriparatide in a young man with OPPG. The subject of this case report is a 19-year-old man with congenital
blindness and low
trauma fractures because of OPPG. A 2-year course of
teriparatide, 20 µg/day, was initiated after a 6-year course of intravenous
pamidronate infusions, the latter 3 years of which had minimal effects on bone mineral density (BMD). Measurements in serum were made of
C-terminal telopeptide of type I collagen (CTX), N-terminal propeptide of
type I collagen (P1NP), total and ionized
calcium, phosphate,
uric acid, complete blood count, and renal and liver function tests. Urinary
calcium/
creatinine ratio was determined. BMD was measured by DXA yearly. BMD increased by 9.7% in lumbar spine and 10.2% in right femur hip. CTX rose early, peaking in month 3, followed by an increase in P1NP, peaking in month 9. Both indices returned to baseline by month 24. The increase in CTX followed by P1NP is an unusual time course when
teriparatide is used to treat
osteoporosis but may be typical of low bone turnover states. There were no adverse events. In a patient with OPPG,
teriparatide markedly increased BMD in the lumbar spine and femur hip.