Patients with multiple sclerosis commonly describe visual symptoms that result from several eye movement abnormalities that occur from disruption of critical pathways in the brainstem, cerebellum, and cerebral hemispheres. These abnormalities include internuclear ophthalmoplegia, ocular motor palsy, ocular misalignment, pathologic nystagmus, impaired saccades, saccadic intrusions, and impaired ...

AIM/BACKGROUND Alport syndrome is an X linked disease that results in renal failure, deafness, and ocular abnormalities including a dot and fleck retinopathy and anterior lenticonus. The ultrastructural appearance of the glomerular basement membrane in thin basement membrane disease (TBMD) resembles that seen in some patients with Alport syndrome, and in some cases this disease is inherited too...

BACKGROUND Schoolchildren form an important target group for a nation, as any ocular morbidity in this age group has huge physical, psychological and socio-economical implications. Childhood eye disorders can contribute to the burden of blindness in any society. This study aims to highlight the prevalence of ocular morbidity in governmental schools in a sub-urbanised area of Nepal, in relation ...

AIM To describe multiple retinal abnormalities in a patient with Bloom syndrome, including early macular drusen, diabetic retinopathy, and the onset of leukaemic retinopathy. METHODS Clinical data were collected over 1 year of follow up, and ocular abnormalities in Bloom syndrome were reviewed from the literature. RESULTS A 39 year old man with a rare autosomal recessive "chromosome breakag...

The authors describe a 38-year-old woman with stiff person syndrome (SPS) and gaze-holding nystagmus, limited abduction, vertical and horizontal ocular misalignment, deficient smooth pursuit, and impaired saccade initiation. There was no evidence of ocular myasthenia, indicating that abnormalities of ocular motor function can occur as a primary manifestation of SPS, perhaps from depletion of GABA.

Acrofacial dysostosis of Nager is a little known hereditary syndrome in which the findings of mandibulofacial dysostosis are associated with defects of the limbs. The present case showed other abnormalities including the Stilling-Turk-Duane syndrome, conductive deafness and ptosis of the transverse colon.

Are the oculomotor disturbances in myotonic dystrophy (MD), i.e. reduced smooth pursuit (SP) gain and reduced saccadic peak velocity (PV), of muscular or central origin? To answer this question the following two approaches were used. (i) The performance of SP was compared with the patient's ability to suppress the vestibulo-ocular reflex (VOR) visually (VOR suppression; VOR-S). In the latter ta...

Craniofacial and limb abnormalities are characteristic of amniogenic band syndrome. We present the ocular findings of a patient with this syndrome and compare these abnormalities with those in 20 previously reported cases.

Background and objective Aside from direct toxic effects, Sulfur Mustard (SM) induced serum hormone abnormalities may aggravate ocular complaints, including Ocular Surface Discomfort (OSD) (burning, itching, and redness), dry eye sensation, photophobia, blurred vision, foreign body sensation, and pain. The aim of the current study was to investigate the possible associ...

Aim: To describe multiple retinal abnormalities in a patient with Bloom syndrome, including early macular drusen, diabetic retinopathy, and the onset of leukaemic retinopathy. Methods: Clinical data were collected over 1 year of follow up, and ocular abnormalities in Bloom syndrome were reviewed from the literature. Results: A 39 year old man with a rare autosomal recessive ‘‘chromosome breakag...