A New Syndrome of Myelinated Nerve Fibers, Vitreoretinopathy, and Skeletal Malformations

Large Retinal Defect Associated With Myelinated Nerve Fibers

“…3 Other reported associations include retinal vascular abnormalities leading to retinal ischemia and recurrent vitreous hemorrhage and vitreoretinopathy with some skeletal deformities. [4][5][6] However, to the best of our knowledge, a large retinal defect within the region of myelination has not been described in the literature. The pathogenesis of such an atrophic retinal break may be retinal ischemia from a subclinical vascular abnormality.…”

Large Retinal Defect Associated With Myelinated Nerve Fibers

“…3 Other reported associations include retinal vascular abnormalities leading to retinal ischemia and recurrent vitreous hemorrhage and vitreoretinopathy with some skeletal deformities. [4][5][6] However, to the best of our knowledge, a large retinal defect within the region of myelination has not been described in the literature. The pathogenesis of such an atrophic retinal break may be retinal ischemia from a subclinical vascular abnormality.…”

Late Diagnosis of Congenital Optic Disc Abnormalities

“…It corresponds to myelination of the peripapillary optical fibers secondary to a defect of the cribriform plate, allowing the oligodendrocytes to access the retina [4]. Their incidence is estimated at 0.3% to 1% [5]. It is a unilateral condition in 80% of cases, affecting both men and women, and is thought to be of autosomal dominant transmission [1].…”

Congenital Optic Nerve Anomalies

“…Myelinated nerve fibers are present in 0.3 to 1% of individuals. 1,89,90 They are characterized by white striated patches at the upper and lower poles of the optic disc, simulating papilledema by elevating the involved disc and obscuring the disc margin and underlying vessels (►Fig. 4).…”

Large Retinal Defect Associated With Myelinated Nerve Fibers

“…3 Other reported associations include retinal vascular abnormalities leading to retinal ischemia and recurrent vitreous hemorrhage and vitreoretinopathy with some skeletal deformities. [4][5][6] However, to the best of our knowledge, a large retinal defect within the region of myelination has not been described in the literature. The pathogenesis of such an atrophic retinal break may be retinal ischemia from a subclinical vascular abnormality.…”

Late Diagnosis of Congenital Optic Disc Abnormalities

“…It corresponds to myelination of the peripapillary optical fibers secondary to a defect of the cribriform plate, allowing the oligodendrocytes to access the retina [4]. Their incidence is estimated at 0.3% to 1% [5]. It is a unilateral condition in 80% of cases, affecting both men and women, and is thought to be of autosomal dominant transmission [1].…”

Congenital Optic Nerve Anomalies

“…Myelinated nerve fibers are present in 0.3 to 1% of individuals. 1,89,90 They are characterized by white striated patches at the upper and lower poles of the optic disc, simulating papilledema by elevating the involved disc and obscuring the disc margin and underlying vessels (►Fig. 4).…”

Large Retinal Defect Associated With Myelinated Nerve Fibers

“…3 Other reported associations include retinal vascular abnormalities leading to retinal ischemia and recurrent vitreous hemorrhage and vitreoretinopathy with some skeletal deformities. [4][5][6] However, to the best of our knowledge, a large retinal defect within the region of myelination has not been described in the literature. The pathogenesis of such an atrophic retinal break may be retinal ischemia from a subclinical vascular abnormality.…”

Late Diagnosis of Congenital Optic Disc Abnormalities

“…It corresponds to myelination of the peripapillary optical fibers secondary to a defect of the cribriform plate, allowing the oligodendrocytes to access the retina [4]. Their incidence is estimated at 0.3% to 1% [5]. It is a unilateral condition in 80% of cases, affecting both men and women, and is thought to be of autosomal dominant transmission [1].…”

Congenital Optic Nerve Anomalies

“…Myelinated nerve fibers are present in 0.3 to 1% of individuals. 1,89,90 They are characterized by white striated patches at the upper and lower poles of the optic disc, simulating papilledema by elevating the involved disc and obscuring the disc margin and underlying vessels (►Fig. 4).…”