Etiology of optic atrophy: a prospective observational study from Saudi Arabia.

Background: Optic atrophy (OA) represents permanent retinal ganglion cell loss warranting study to establish etiology.

Objectives: To describe neurogenic causes of OA.

Design: Prospective, observational.

Chronic Myelogenous Leukemia Relapse Presenting With Central Nervous System Blast Crisis and Bilateral Optic Nerve Infiltration.

Bilateral, simultaneous optic nerve sheath infiltration as a manifestation of leukemia relapse is very rare. A 45-year-old woman with chronic myelogenous leukemia was successfully treated to cytogenetic bone marrow remission 1 year previously and maintained on imatinib. She developed total bilateral blindness with marked, bilateral optic disc edema and evidence of bilateral optic nerve infiltration on magnetic resonance imaging.

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

Donnai-Barrow syndrome (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major hypertelorism with bulging eyes), high grade myopia, deafness and low molecular weight proteinuria. The disorder results from mutations in the low density lipoprotein receptor-related protein 2 gene LRP2 that maps to chromosome 2q31.1.