Many colour tests require a visual acuity of at least 0.1, making them unsuitable for low vision patients. To assess colour vision in patients with sub-normal acuity, we re-designed a previously described test so that its spatial details would be coarse enough to be resolvable by subjects with severe visual impairment. The test measures chromatic discrimination along 20 axes evenly spaced in CI...

Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, classic phenotype composed of optic atrophy, diabetes mellitus type 1, insipidus, and deafness. syndrome, however, phenotypically heterogenous with variable clinical manifestations age onset. We describe four cases genetically confirmed presentations, including acute-on-chronic...

Introduction: Optic atrophy results from the disease process that cause irreversible damage to ganglion cells and anterior visual pathway, but may also result posterior pathway involvement. The etiology causing this condition is vast regardless of underlying it carries bad prognosis at times be life threatening. study aims assess patients with optic nerve presenting B.P. Koirala lions centre fo...

AIM Treatment options for idiopathic intracranial hypertension (IIH) are lumbar peritoneal shunt (LP), optic nerve fenestration, ventriculoperitoneal shunt and venous stenting. We report our experience of 24 cases of LP shunt. MATERIAL and METHODS All the patients had preoperative fundus examination, cerebrospinal fluid pressure estimation and examination, visual field charting, C...

A retrospective study of 737 consecutive necropsies yielded 15 cases of drusen of the optic nerve head, an incidence of 20-4 cases per thousand. This represents the highest incidence yet reported. The histopathological features of drusen of the nerve head included elevation of the nerve head, compression of optic nerve fibres, partial optic atrophy, cytoid bodies, disc haemorrhages, juxtapapill...

OBJECTIVE To report a case of a patient diagnosed with Wolfram Syndrome and brachydactyly type E. Wolfram Syndrome is characterized by the presence of diabetes mellitus, diabetes insipidus, atrophy of the optic nerve, alterations of the urinary tract, deafness and neurologic and psychiatric disorders. However, not all manifestations are present at diagnosis, indicating the necessity of long-ter...

OBJECTIVE To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. DESIGN Clinical evaluation with the assessment of visual acuity, color vision, and optic nerve appearance to determine affection status. Linkage analysis using polymorphic DNA markers. RESULTS Visual acuities ranged from 20/20 to 6/200. Although linkage was exclude...

Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known retinal disease genes. However, six exons failed to be sequenced by CNGS in optic atrophy 1 gene (OP...