Introduction. Laurence-Moon-Biedl (LMB) syndrome is a rare autosomal-recessive ciliopathy with manifold symptomatology. The cardinal clinical features include retinitis pigmentosa, obesity, intellectual delay, polydactyly/syndactyly, and hypogenitalism. In this paper, the authors report on three siblings with Laurence-Moon-Biedl syndrome associated with a probable pseudocycloid form of congenit...

Commonly, when an individual with congenital nystagmus (CN) performs a visually demanding task their nystagmus intensifies and their visual acuity decreases, probably due to poorer foveation. However, the relationship between fixation attempt and nystagmus waveform has never been quantified. In this study 14 CN subjects viewed a Landolt C of varying orientation and size. They indicated its orie...

Manifest latent nystagmus (MLN) was identified in 31 patients by accurate eye movement records. All the patients had horizontal tropias, and the nystagmus fast phases were always in the direction of viewing eye. The slow phases of MLN are decreasing-velocity exponentials while those of the jerk form of congenital nystagmus (CN) are increasing velocity exponentials. Several subjects who were bel...

Matthew J. Thurtell, MBBS Konrad P. Weber, MD G. Michael Halmagyi, MD A 40-year-old female migraineur reported intermittent unsteadiness with headache. On examination, she had gaze-evoked horizontal-torsional nystagmus that was also evident during pursuit (video). Nystagmus recordings showed increasing-velocity slow phases typical for congenital nystagmus (CN) (figure 1). A relative subsequentl...

Toxoplasmosis is a rare disease caused by intracellular protozoan parasite, Toxoplasma gondii. Though most patients with toxoplasmosis are asymptomatic, congenital toxoplasmosis in the fetus can cause ocular involvement such as chorioretinitis and central nervous system disease including intracerebral calcification, nystagmus, hydrocephalus and microcephaly. Also, these brain lesions can cause ...

Nystagmus is a relatively common clinical condition that remains a therapeutic enigma. We present a case in which soft contact lenses were prescribed in a young adult with congenital jerk nystagmus. Immediate and large improvements in both motor and sensory function, as well as cosmesis, were found, with enhancement one week later following constant lens wear. Use of soft contact lenses in thes...

THE cause of congenital nystagmus has been considered to be as obscure as the disorder is resistant to treatment. This paper contains little hint of value regarding the former but it is believed that it does contain some for the latter. Nystagmus may be divided into the following groups: (1) Visual or fixation nystagmus. (2) Oculomotor or gaze nystagmus. (3) Vestibular nystagmus. The movements ...

DEFINITIONS Gaze-evoked Gaze-evoked nystagmus (GEN) is a jerk nystagmus, not present in primary position, elicited by attempted maintenance of eccentric eye position, GEN may have a linear or a decreasing-velocity exponential slow phase; the latter has sometimes been referred to as gaze-paretic nystagmus but, unless it is due to a muscle or nerve paresis, the GEN terminology is preferred. Disti...

We performed a pars plicata lensectomy-vitrectomy on 32 patients (47 eyes) with congenital cataracts. Ocular abnormalities, mainly nystagmus, strabismus, and microphthalmia, were present in 29 patients. No complications occurred intraoperatively or postoperatively in 39 eyes with up to 8 1/2 years' follow-up (average 2.2 years). The pars plicata approach is a good surgical technique for the man...