Liu et al. (2007) reported a large 6-generation Chinese family in which 8 affected males had nystagmus. Foveal hypoplasia and decreased visual acuity were also present in 4 affected males. Three of the affected males and 1 carrier ... Liu et al. (2007) reported a large 6-generation Chinese family in which 8 affected males had nystagmus. Foveal hypoplasia and decreased visual acuity were also present in 4 affected males. Three of the affected males and 1 carrier female had mottling of the retinal pigmentation. None of the carrier females had nystagmus, consistent with X-linked recessive inheritance. Pigmentation of the hair and skin was normal in all family members examined. Liu et al. (2007) noted that some of the features were consistent with ocular albinism, and called the disorder a 'variant phenotype of ocular albinism.' Zhou et al. (2008) reported a 4-generation Han Chinese family with X-linked congenital nystagmus. Affected individuals, all of whom were male, had nystagmus and amblyopia, but none had evidence of retinal hypopigmentation. Peng et al. (2009) reported a Chinese family with X-linked congenital nystagmus. All patients were male and had binocular spontaneous horizontal oscillations without head nodding. They all had reduced vision, amblyopia, and mild compound hypermetropic astigmatism. None of the patients had classic features of ocular albinism. Female carriers were unaffected, consistent with X-linked recessive inheritance.
In a large 6-generation Chinese family with a 'variant phenotype of ocular albinism' mapping to Xp22, Liu et al. (2007) analyzed 21 candidate genes and identified a missense mutation in the GPR143 gene (S89F; 300808.0009) in affected males ... In a large 6-generation Chinese family with a 'variant phenotype of ocular albinism' mapping to Xp22, Liu et al. (2007) analyzed 21 candidate genes and identified a missense mutation in the GPR143 gene (S89F; 300808.0009) in affected males and carrier females. Zhou et al. (2008) identified a 37-bp deletion in the GPR143 gene (300808.0011) in affected male members of a 4-generation Chinese family with X-linked congenital nystagmus without evidence of ocular albinism. Obligate mutation carriers did not have nystagmus, consistent with X-linked recessive inheritance. Peng et al. (2009) identified a 14-bp duplication in the GPR143 gene (300808.0012) in a Chinese family with X-linked recessive congenital nystagmus without features of ocular albinism. Female carriers were unaffected.