Osteoporosis-pseudoglioma syndrome

Osteoporosis-pseudoglioma syndrome (OPPG; MIM 259770) is an autosomal recessive disorder characterized by early onset vision loss and osteoporosis. Reported eye findings include pseudoglioma, phthisis bulbi, microphthalmia, cataracts, absent anterior eye chambers and various vitreoretinal abnormalities. Individuals lacking vitreoretinal abnormalities may not have osteoporosis-pseudoglioma syndrome. Most patients are blind by 15 years of age. Bone fragility and severe osteoporosis resulting in spontaneous fractures, long bone deformities, short stature, kyphoscoliosis, pseudoarthrosis and platyspondyly have been described. Most cases of OPPG are caused by loss of function mutations in the low density lipoprotein receptor-related protein-5 gene (LRP5). DNA sequencing of the LRP5 gene will define mutations in more than 70% of cases. The findings in OPPG overlap with features of exudative vitreoretinopathy 4 (MIM 601813).



Disease Group(s)

Ophthalmology Skeletal disorders




81406 x 1,81479 x 1


Test Code

Additional Test Codes
1256 —Next Generation Sequencing Only, 1257 — Deletion / Duplication Only

Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)

Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl) Fibroblasts: 2 confluent T-25 flasks Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.