Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS Gene

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

“…The variant c.424C>T was found in four families and c.136C>T was found in two families. However, other variants were not found in the present study or in previous studies in Japan [42,44,[50][51][52][53][54][55][56][57][58]. Instead, c.599T>A (p.V200E) reported in a previous study in Japan [51] was found in seven patients from three families in the present study.…”

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

“…The variant c.424C>T was found in four families and c.136C>T was found in two families. However, other variants were not found in the present study or in previous studies in Japan [42,44,[50][51][52][53][54][55][56][57][58]. Instead, c.599T>A (p.V200E) reported in a previous study in Japan [51] was found in seven patients from three families in the present study.…”

The Role of Rds in Outer Segment Morphogenesis and Human Retinal Disease

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A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

“…We identified qualifying genotypes in PRPH2 in 5.06% of cases versus 0.022% of controls (odds ratio [OR] >240; FET p value 7.77 × 10 −8 ). Previously, PRPH2 has been reported to exhibit a dominant effect in PD, 28 RP, 29 MD, 30 CRD, 31 and central areolar choroidal dystrophy. 32 In CRX , we identified qualifying genotypes in 5.06% of cases versus 0.067% of controls (OR >80; FET p value 1.06 × 10 −6 ).…”

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

“…The variant c.424C>T was found in four families and c.136C>T was found in two families. However, other variants were not found in the present study or in previous studies in Japan [42,44,[50][51][52][53][54][55][56][57][58]. Instead, c.599T>A (p.V200E) reported in a previous study in Japan [51] was found in seven patients from three families in the present study.…”

The Role of Rds in Outer Segment Morphogenesis and Human Retinal Disease

“……”

A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

“…We identified qualifying genotypes in PRPH2 in 5.06% of cases versus 0.022% of controls (odds ratio [OR] >240; FET p value 7.77 × 10 −8 ). Previously, PRPH2 has been reported to exhibit a dominant effect in PD, 28 RP, 29 MD, 30 CRD, 31 and central areolar choroidal dystrophy. 32 In CRX , we identified qualifying genotypes in 5.06% of cases versus 0.067% of controls (OR >80; FET p value 1.06 × 10 −6 ).…”

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

“…The variant c.424C>T was found in four families and c.136C>T was found in two families. However, other variants were not found in the present study or in previous studies in Japan [42,44,[50][51][52][53][54][55][56][57][58]. Instead, c.599T>A (p.V200E) reported in a previous study in Japan [51] was found in seven patients from three families in the present study.…”

The Role of Rds in Outer Segment Morphogenesis and Human Retinal Disease

“……”

A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

“…We identified qualifying genotypes in PRPH2 in 5.06% of cases versus 0.022% of controls (odds ratio [OR] >240; FET p value 7.77 × 10 −8 ). Previously, PRPH2 has been reported to exhibit a dominant effect in PD, 28 RP, 29 MD, 30 CRD, 31 and central areolar choroidal dystrophy. 32 In CRX , we identified qualifying genotypes in 5.06% of cases versus 0.067% of controls (OR >80; FET p value 1.06 × 10 −6 ).…”