%0 Case Reports
%T A new case of osteogenesis imperfecta type VIII and retinal detachment.
%A de Souza LT
%A Nunes RR
%A de Azevedo Magalhães O
%A Maria Félix T
%J Am J Med Genet A
%V 185
%N 1
%D 01 2021
%M 33098264
%F 2.578
%R 10.1002/ajmg.a.61934
%X 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.