Butterfly-Shaped Pattern Dystrophy

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

“…One interesting finding in the Prph2 C213Y mouse model was the observation of a yellow flecking in the fundus of both Prph2 C213Y/+ and Prph2 C213Y/C213Y mice at P180. This phenotype mimics funduscopic anomalies found in patients carrying the C213Y mutation [110].…”

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

“…One interesting finding in the Prph2 C213Y mouse model was the observation of a yellow flecking in the fundus of both Prph2 C213Y/+ and Prph2 C213Y/C213Y mice at P180. This phenotype mimics funduscopic anomalies found in patients carrying the C213Y mutation [110].…”

Progression of Macular Atrophy in Pattern Dystrophies

“…20 However, several studies have shown that the disease can progress with age, and older individuals may exhibit atrophic depigmented lesions and/or choroidal neovas-cularization that can result in severe vision loss. [21][22][23][24] Indeed, a 75-year-old patient with PD in our study had a large atrophy area with a high rate of atrophy progression and a poor visual outcome (Figure 3). Those cases could also be misdiagnosed with atrophic AMD.…”

A Family Affected by Novel C213W Mutation in PRPH2 : Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy

“…This disrupted amino acid residue in the D2 loop of the PRPH2 was likely the underlying cause of their disease, given that other variants affecting this residue have been classified as pathogenic. 13,18,22 Inter-and intrafamilial phenotype variability in PD and the founder effect have been previously described. 2,6,10,11 In our family, the older two siblings have demonstrated similar clinical findings of PD with CNV without significant atrophy or RP.…”

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

“…One interesting finding in the Prph2 C213Y mouse model was the observation of a yellow flecking in the fundus of both Prph2 C213Y/+ and Prph2 C213Y/C213Y mice at P180. This phenotype mimics funduscopic anomalies found in patients carrying the C213Y mutation [110].…”

Progression of Macular Atrophy in Pattern Dystrophies

“…20 However, several studies have shown that the disease can progress with age, and older individuals may exhibit atrophic depigmented lesions and/or choroidal neovas-cularization that can result in severe vision loss. [21][22][23][24] Indeed, a 75-year-old patient with PD in our study had a large atrophy area with a high rate of atrophy progression and a poor visual outcome (Figure 3). Those cases could also be misdiagnosed with atrophic AMD.…”

A Family Affected by Novel C213W Mutation in PRPH2 : Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy

“…This disrupted amino acid residue in the D2 loop of the PRPH2 was likely the underlying cause of their disease, given that other variants affecting this residue have been classified as pathogenic. 13,18,22 Inter-and intrafamilial phenotype variability in PD and the founder effect have been previously described. 2,6,10,11 In our family, the older two siblings have demonstrated similar clinical findings of PD with CNV without significant atrophy or RP.…”

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

“…One interesting finding in the Prph2 C213Y mouse model was the observation of a yellow flecking in the fundus of both Prph2 C213Y/+ and Prph2 C213Y/C213Y mice at P180. This phenotype mimics funduscopic anomalies found in patients carrying the C213Y mutation [110].…”

Progression of Macular Atrophy in Pattern Dystrophies

“…20 However, several studies have shown that the disease can progress with age, and older individuals may exhibit atrophic depigmented lesions and/or choroidal neovas-cularization that can result in severe vision loss. [21][22][23][24] Indeed, a 75-year-old patient with PD in our study had a large atrophy area with a high rate of atrophy progression and a poor visual outcome (Figure 3). Those cases could also be misdiagnosed with atrophic AMD.…”

A Family Affected by Novel C213W Mutation in PRPH2 : Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy

“…This disrupted amino acid residue in the D2 loop of the PRPH2 was likely the underlying cause of their disease, given that other variants affecting this residue have been classified as pathogenic. 13,18,22 Inter-and intrafamilial phenotype variability in PD and the founder effect have been previously described. 2,6,10,11 In our family, the older two siblings have demonstrated similar clinical findings of PD with CNV without significant atrophy or RP.…”