Shlomo Dotan, MD Department of Ophthalmology, Hebrew University Hadassah Medical Center, Jerusalem, Israel ABSTRACT Purpose: To demonstrate that slow-growing intracranial suprasellar mass lesions can be associated with optic disc cupping, clinically indistinguishable from glaucomatous optic neuropathy. Cases: At a neuro-ophthalmology tertiary clinic, a retrospective chart review identified four...

Aims. To compare optical coherence tomography angiography (OCT-A) retinal vasculature measurements between normal and optic atrophy after nonarteritic anterior ischemic optic neuropathy (NAION) subjects. Design. This prospective observational study was conducted between July 2015 and August 2016 at the ophthalmology outpatient department of a referral center in Taiwan. Peripapillary (4.5 × 4.5 ...

A 51-year-old woman had optic disk cupping from optic nerve compression by an intracranial aneurysm. Slit-lamp stereoscopic examination of the living eye immediately post mortem revealed an optic cup vertically oral, elongated superiorly, and indistinguishable from disk changes seen early in glaucoma. The histopathological changes differed from those in glaucoma by showing no glial atrophy. Ins...

INTRODUCTION Most pituitary adenomas are clinically inactive. In patients with long-standing compression of the optic chiasm, ganglion cells may undergo axonal degeneration. Spectral domain optical coherence tomography (SD-OCT) is able to identify retinal nerve fiber layer (RNFL) and ganglion cell loss in the retina. We present a case in which SD-OCT was used to diagnose an asymptomatic pituita...

Five young men had painless, progressive, bilateral loss of central vision with late optic atrophy. One had a family history of Leber's optic neuropathy. After being functionally blind for four to 21 months, spontaneous improvement began leading to remarkable recovery of vision in all patients. We propose that these are cases of Leber's optic neuropathy in which an unusual capacity for recovery...

PURPOSE To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family. METHODS Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations. RESULTS The proband and his sons had a ...

As is common knowledge, there is an argument as to whether or not the toxic radical cyanide is an important aetiological agent responsible for the development of some of the conditions grouped under the term toxic amblyopia. There are arguments and counterarguments, and it would appear useful at this stage to state the evidence for and against cyanide as a cause of these conditions. The argumen...

Malignant infantile osteopetrosis is a rare inherited disease of bone metabolism, in which osteoclast dysfunction and diminished turnover lead to diffuse sclerosis with obliteration the medullary cavities narrowing skull base neural foramina. We report case malignant marrow failure optic atrophy that co-occurred hypophosphatasia, another disease, 6-year-old boy. Key imaging signs these diseases...

The C12orf65 gene is a nuclear gene that encodes a mitochondrial matrix protein contributing to mitochondrial translation. [1] C12orf65 gene-related diseases are rare and present with large heterophenotypes. Most of the reported patients have had optic atrophy with intellectual disability, encephalomyopathy, spastic paraplegia, and ophthalmoplegia. Peripheral neuropathy has been reported in one...