Oculodentodigital Dysplasia

Mefloquine-associated dizziness, diplopia, and central serous chorioretinopathy: a case report

“…In this case, it is plausible that connexin43 gap junction blockade at the level of the choroidal vasculature and retinal pigment epithelium could have resulted in increased choroidal vascular permeability and extravasation of fluid underneath the retinal pigment epithelium. For example, gap junction dysfunction in congenital oculodentodigital dysplasia arising from an autosomal dominant mutation of the gap junction protein alpha-1 ( GJA1 ) gene coding for connexin43 results in iridociliary cysts, thought to be due to abnormal adhesion of epithelial cells [11]. However, arguing against this possibility in our case is that there were no anterior segment sequelae, implying the absence of similar disruptions elsewhere despite the extensive expression of connexin43 throughout his eye.…”

Mefloquine-associated dizziness, diplopia, and central serous chorioretinopathy: a case report

“…In this case, it is plausible that connexin43 gap junction blockade at the level of the choroidal vasculature and retinal pigment epithelium could have resulted in increased choroidal vascular permeability and extravasation of fluid underneath the retinal pigment epithelium. For example, gap junction dysfunction in congenital oculodentodigital dysplasia arising from an autosomal dominant mutation of the gap junction protein alpha-1 ( GJA1 ) gene coding for connexin43 results in iridociliary cysts, thought to be due to abnormal adhesion of epithelial cells [11]. However, arguing against this possibility in our case is that there were no anterior segment sequelae, implying the absence of similar disruptions elsewhere despite the extensive expression of connexin43 throughout his eye.…”

Context-dependent compensation among phosphatidylserine-recognition receptors

“…5B , Table 1 ). Two genes, Gja1 and Cyp27a1 have a striking monogenic association with oculodentodigital dysplasia and cerebrotendinous xanthomatosis respectively, both of which are associated with retinal abnormalities 50 , 51 . Three genes had SNP associations to retinal disease: Ldlrad3 , Fads2 , and Fbln7 (Table 1 ).…”

Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery

“…Several proteins associated with the cell membrane and/or cytoskeleton were identified. Patients with mutation in the gap junction alpha-1 protein (Gja1) exhibit optic nerve and retinal dysplasia (Gabriel et al 2011). The ankyrin proteins identified here, ankyrin-2 (Ank2) and ankyrin-3 (Ank3), have been shown to be essential for development of rod photoreceptors in mice (Kizhatil et al 2009b, a) (Kizhatil et al, 2009a(Kizhatil et al, , 2009b (Kizhatil et al, 2009a(Kizhatil et al, , 2009b (Kizhatil et al, 2009a).…”

Mefloquine-associated dizziness, diplopia, and central serous chorioretinopathy: a case report

“…In this case, it is plausible that connexin43 gap junction blockade at the level of the choroidal vasculature and retinal pigment epithelium could have resulted in increased choroidal vascular permeability and extravasation of fluid underneath the retinal pigment epithelium. For example, gap junction dysfunction in congenital oculodentodigital dysplasia arising from an autosomal dominant mutation of the gap junction protein alpha-1 ( GJA1 ) gene coding for connexin43 results in iridociliary cysts, thought to be due to abnormal adhesion of epithelial cells [11]. However, arguing against this possibility in our case is that there were no anterior segment sequelae, implying the absence of similar disruptions elsewhere despite the extensive expression of connexin43 throughout his eye.…”

Context-dependent compensation among phosphatidylserine-recognition receptors

“…5B , Table 1 ). Two genes, Gja1 and Cyp27a1 have a striking monogenic association with oculodentodigital dysplasia and cerebrotendinous xanthomatosis respectively, both of which are associated with retinal abnormalities 50 , 51 . Three genes had SNP associations to retinal disease: Ldlrad3 , Fads2 , and Fbln7 (Table 1 ).…”

Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery

“…Several proteins associated with the cell membrane and/or cytoskeleton were identified. Patients with mutation in the gap junction alpha-1 protein (Gja1) exhibit optic nerve and retinal dysplasia (Gabriel et al 2011). The ankyrin proteins identified here, ankyrin-2 (Ank2) and ankyrin-3 (Ank3), have been shown to be essential for development of rod photoreceptors in mice (Kizhatil et al 2009b, a) (Kizhatil et al, 2009a(Kizhatil et al, , 2009b (Kizhatil et al, 2009a(Kizhatil et al, , 2009b (Kizhatil et al, 2009a).…”

Mefloquine-associated dizziness, diplopia, and central serous chorioretinopathy: a case report

“…In this case, it is plausible that connexin43 gap junction blockade at the level of the choroidal vasculature and retinal pigment epithelium could have resulted in increased choroidal vascular permeability and extravasation of fluid underneath the retinal pigment epithelium. For example, gap junction dysfunction in congenital oculodentodigital dysplasia arising from an autosomal dominant mutation of the gap junction protein alpha-1 ( GJA1 ) gene coding for connexin43 results in iridociliary cysts, thought to be due to abnormal adhesion of epithelial cells [11]. However, arguing against this possibility in our case is that there were no anterior segment sequelae, implying the absence of similar disruptions elsewhere despite the extensive expression of connexin43 throughout his eye.…”

Context-dependent compensation among phosphatidylserine-recognition receptors

“…5B , Table 1 ). Two genes, Gja1 and Cyp27a1 have a striking monogenic association with oculodentodigital dysplasia and cerebrotendinous xanthomatosis respectively, both of which are associated with retinal abnormalities 50 , 51 . Three genes had SNP associations to retinal disease: Ldlrad3 , Fads2 , and Fbln7 (Table 1 ).…”

Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery

“…Several proteins associated with the cell membrane and/or cytoskeleton were identified. Patients with mutation in the gap junction alpha-1 protein (Gja1) exhibit optic nerve and retinal dysplasia (Gabriel et al 2011). The ankyrin proteins identified here, ankyrin-2 (Ank2) and ankyrin-3 (Ank3), have been shown to be essential for development of rod photoreceptors in mice (Kizhatil et al 2009b, a) (Kizhatil et al, 2009a(Kizhatil et al, , 2009b (Kizhatil et al, 2009a(Kizhatil et al, , 2009b (Kizhatil et al, 2009a).…”