OBJECTIVES Although nystagmus has been reported in Down syndrome (DS), it has been poorly characterized, because most investigators have relied on clinical observations rather than on eye movement recordings. This study was conducted to investigate nystagmus in DS, using quantitative measurements of eye movements. METHODS Ocular motility and visual functions were examined in 26 unselected adu...

Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We report electrophysiologic and eye movement...

AIMS To investigate whether ocular anomalies are associated with congenital heart defects in children with Down's syndrome. METHODS 58 children with Down's syndrome were entered into a retrospective observational study. Children were assigned to heart defect groups based on medical records. Optometric tests had previously been carried out at the homes of the children. RESULTS A relation bet...

Visual evoked potential (VEP) asymmetry in which a preponderance of nasal and temporal retina afferents project to the contralateral hemisphere after full-field monocular stimulation is considered specific to albinism. Some reports, however, suggest that patients with congenital nystagmus (CN) share the albino-like visual pathway anomaly. To examine the clinical specificity of albino misrouting...

CASE A 44-year-old woman with congenital nystagmus and myopic astigmatism in both eyes who was submitted to phakic intraocular lens (pIOL) implantation. METHODS Full ophthalmologic examination including refractive status, corrected (CDVA) and uncorrected (UCVA) monocular and binocular visual acuities, ocular motility, slit-lamp evaluation, tonometry and fundoscopy before and after implantatio...

To ensure high acuity vision, eye movements have to be controlled with astonishing precision by the oculomotor system. Many human diseases can lead to abnormal eye movements, typically of the involuntary oscillatory eye movements type called nystagmus. Such nystagmus can be congenital (infantile) or acquired later in life. Although the resulting eye movements are well characterized, there is on...

PURPOSE To screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital nystagmus (ICN). METHODS It has been reported that FRMD7 mutations account for approximately 47% of X-linked nystagmus in Chinese patients. We collected 5 ml of blood samples from members of a family with X-linked ICN and 100 normal controls. Mutations in FRMD7 were...