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PubMed2003

Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome.

BACKGROUND: The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset blindness. Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The gene responsible was recently identified to be the low density lipoprotein receptor-related family member LRP5 on chromosome 11q11-12. OBJECTIVE: To measure bone density in two siblings with the OPPG syndrome as well as in their family members (parents and siblings). METHODS: Bone mineral density was determined in the lumbar spine (antero-posterior), femoral neck, two-thirds distal forearm (> 95% cortical bone) and ultradistal forearm (predominantly trabecular bone) by dual-energy X-ray absorptiometry. RESULTS: The studies revealed osteoporotic changes both in the patients and the carriers. CONCLUSION: The findings demonstrate that OPPG carriers have reduced bone mass, which is a risk factor for development of early osteoporotic changes.

Abnormalities, Multiple↗

PubMed1982

Syndrome of osteoporosis with pseudoglioma.

a 12 1/2-year-old boy with the rare autosomal recessive syndrome of osteoporosis with pseudoglioma is reported. Pertinent laboratory findings included osteoporotic lesions of the skeleton and calcification of the left lens. He was hypotonic and presented atrophic globes with opacities of the lenses. His psychomotor development was normal. Parental consanguinity is not excluded.

Brain Diseases↗

PubMed1981

[Hyaloretinal degeneration with osteoporosis and bone fragility. Pseudoglioma with bone fragility (author's transl)].

Three patients from the same family presented hyaloretinal dysplasia (pseudoglioma) associated with osteoporosis and bone fragility. Results of clinical, ophthalmological, and radiological examinations in these three cases are described, together with those reported in the literature concerning 21 other cases of this rare autosomal-recessive affection.

Adolescent↗

PubMed1993

The osteoporosis pseudoglioma syndrome.

The diagnosis of osteoporosis pseudoglioma syndrome was established by radiological study in two children who were previously diagnosed as having osteogenesis imperfecta. The clinical, radiological and biochemical findings are discussed. The important role of radiology in establishing the diagnosis is stressed.

Adolescent↗

PubMed1996

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

Osteoporosis-pseudoglioma syndrome (OPS) is an autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness. The pathogenic mechanism is not known. Clinical, biochemical, and microscopic analyses suggest that OPS may be a disorder of matrix homeostasis rather than a disorder of matrix structure. Consequently, identification of the OPS gene and its protein product could provide insights regarding common osteoporotic conditions, such as postmenopausal and senile osteoporosis. As a first step toward determining the cause of OPS, we utilized a combination of traditional linkage analysis and homozygosity mapping to assign the OPS locus to chromosome region 11q12-13. Mapping was accomplished by analyzing 16 DNA samples (seven affected individuals) from three different consanguineous kindreds. Studies in 10 additional families narrowed the candidate region, supported locus homogeneity, and did not detect founder effects. The OPS locus maps to a 13-cM interval between D11S1298 and D11S971 and most likely lies in a 3-cM region between GSTP1 and D11S1296. At present, no strong candidate genes colocalize with OPS.

Alleles↗

PubMed1997

Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome.

We had the opportunity to investigate the early abnormalities of the eyes in a family with osteoporosis-pseudoglioma syndrome. This syndrome combines severe premature osteoporosis with a bilateral eye disorder, leading to early onset blindness. Using colour doppler imaging in the 4-month-old girl from this affected family we demonstrated persistent hyperplastic primary vitreous in both eyes. Her brother's eyes had developed a partially calcified undefined mass. Our observation supports the hypothesis, that the disease gene may encode a matrix protein expressed in bone and eye.

Abnormalities, Multiple↗

PubMed1950