{Reference Type}: Case Reports
{Title}: A new case of osteogenesis imperfecta type VIII and retinal detachment.
{Author}: de Souza LT;Nunes RR;de Azevedo Magalhães O;Maria Félix T;
{Journal}: Am J Med Genet A
{Volume}: 185
{Issue}: 1
{Year}: 01 2021
{Factor}: 2.578
{DOI}: 10.1002/ajmg.a.61934
{Abstract}: Osteogenesis imperfecta (OI) type VIII (OMIM: 610915) is a rare autosomal recessive disorder characterized by white sclerae, severe growth deficiency, and bone fragility. This condition results from pathogenic variants of P3H1, a gene that codes for P3H1, an important protein involved in the prolyl-3-hydroxylation complex required for collagen type I folding. Here, we described a woman with OI type VIII due to a homozygous mutation of c.1914+1G>C (NM_001243246.1) in P3H1 and retinal detachment. We compared our case to five severe OI and retinal detachment cases reported in the literature. The only case previously reported with a molecular diagnosis had a similar mutation in P3H1 c.1914+1G>A and a giant retinal detachment. We suggest that individuals with OI type VIII should be submitted to careful fundoscopic examination.