Osteoporosis-Pseudoglioma Syndrome

Osteoporosis-Pseudoglioma Syndrome (OPPG): Ocular findings range from phthisis bulbi to persistent hyperplasia of the primary vitreous, congenital retinal folds and exudative vitreoretinopathy. The majority of patients are blind by 15 years of age with all probands blind by 25 years of age. The skeletal disease is characterized by severe juvenile-onset osteoporosis leading to bone deformity and recurrent fractures. Some patients may also present with cognitive impairment (Ai et al., 2005).

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Differentiation of FEVR from retinopathy of prematurity (ROP) and Coats disease
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
  • Capillary Sequencing


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 362.13 Changes in vascular appearance, Vascular sheathing of retina
  • 362.12 Exudative retinopathy Coats' syndrome
  • 362.16 Retinal neovascularization NOS, Neovascularization: choroidal subretinal
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  1. Kondo H et al., (2003) Br J Ophthalmol 87:1291–95
  2. Toomes C et al., (2004) Am J Hum Genet 74:721–30
  3. Jiao X et al., (2004) Hum Genet 75:878–884
  4. Nallathambi J et al., (2006) Mol Vis 12:1086–92
  5. Qin M et al., (2005) Hum Mutat 26:104-12
  6. Ai M et al., (2005) Am J Hum Genet 77:741-753
  7. Gong Y et al., (2001) Cell 107:513-523
  8. Janssens K et al., (2002) Hum Mol Genet 11:2385-93
  9. Van Wesenbeek L et al., (2003) Am J Hum Genet 72:763-771
  10. Chung B et al., (2009) Hum Mutat 30:641-648
  11. Balemans W et al., (2007) Endocrinology 148:2622-2629
  12. Hartikka H et al., (2005) J Bone Miner Res 20:783–789
  13. Crabbe P et al., (2005) J Bone Miner Res 20:1951–1959