Shastry and Trese (1997) reported a family in which the mode of inheritance of FEVR appeared to be autosomal recessive. Affected males and females occurred in 3 separate sibships. The parents were consanguineous in the case of 2 ... Shastry and Trese (1997) reported a family in which the mode of inheritance of FEVR appeared to be autosomal recessive. Affected males and females occurred in 3 separate sibships. The parents were consanguineous in the case of 2 of the sibships. Two unrelated families with FEVR reported by de Crecchio et al. (1998) likewise showed apparent autosomal recessive inheritance. Compared with autosomal dominant and X-linked recessive inheritance, the presumably recessive form showed earlier onset at birth and a more severe and progressive course.
In affected members of 6 unrelated families with FEVR, Toomes et al. (2004) identified 6 different heterozygous mutations in the LRP5 gene (see, e.g., 603506.0020-603506.0021). One of the families had been reported by Price et al. (1996). ... In affected members of 6 unrelated families with FEVR, Toomes et al. (2004) identified 6 different heterozygous mutations in the LRP5 gene (see, e.g., 603506.0020-603506.0021). One of the families had been reported by Price et al. (1996). In affected members of the 3 families with autosomal recessive EVR studied by Shastry and Trese (1997) and de Crecchio et al. (1998), Jiao et al. (2004) identified 3 different homozygous mutations in the LRP5 gene: R570Q (603506.0022), R752G (603506.0023), and E1367K (603506.0024). The findings indicated that mutations in the LRP5 gene can cause both autosomal dominant and autosomal recessive EVR. Qin et al. (2005) identified 9 novel mutations in the LRP5 gene (see, e.g., 603506.0025-602506.0028) in Japanese patients with FEVR. Four families showed autosomal dominant inheritance, and 2 families showed autosomal recessive inheritance. One family was found to have a heterozygous mutation in the LRP5 gene (603506.0026) and a heterozygous mutation in the FZD4 gene (604579.0003) on the same chromosome. Qin et al. (2005) also found that patients with mutations in the LRP5 gene showed reduced bone mineral density and suggested that it is a common feature in patients with EVR4. Qin et al. (2005) proposed that osteoporosis-pseudoglioma syndrome (OPPG; 259770), which is also caused by mutation in the LRP5 gene, and EVR4 are part of a single phenotypic spectrum with both ocular and bone manifestations.