0000000000650373
AUTHOR
Eberhart Zrenner
Stereotactic fractionated radiotherapy in patients with optic nerve sheath meningioma.
Abstract Purpose: To evaluate the effectiveness of stereotactic fractionated radiotherapy (SFRT) in the treatment of optic nerve sheath meningioma (ONSM). Methods and Materials: Between 1994 and 2000, a total of 39 patients with either primary ( n = 15) or secondary ( n = 24) ONSM were treated with SFRT and received a median total tumor dose of 54 Gy using 1.8 Gy/fraction. Results: The radiographic response to SFRT was documented in all patients as stable disease (no change) except for 1 patient with a partial response. After a median follow-up of 35.5 months, all patients with ONSM were alive without recurrence. The visual fields and visual acuity were improved in 6 of 15 and 1 of 16 exami…
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…
Mutation Analysis Identifies GUCY2D as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration
PURPOSE. Heterozygous mutations in the GUCY2D gene, which encodes the membrane-bound retinal guanylyl cyclase-1 protein (RetGC-1), have been shown to cause autosomal dominant inherited cone degeneration and cone–rod degeneration (adCD, adCRD). The present study was a comprehensive screening of the GUCY2D gene in 27 adCD and adCRD unrelated families of these rare disorders. METHODS. Mutation analysis was performed by direct sequencing as well as PCR and subsequent restriction length polymorphism analysis (PCR/RFLP). Haplotype analysis was performed in selected patients by using microsatellite markers. RESULTS. GUCY2D gene mutations were identified in 11 (40%) of 27 patients, and all mutation…