Artificial intelligence techniques for automatic screening of amblyogenic factors.

Purpose: To develop a low-cost automated video system to effectively screen children aged 6 months to 6 years for amblyogenic factors.

Methods: In 1994 one of the authors (G.C.

Video vision development assessment in diagnosis and documentation of microtropia.

Background: Microtropia is under diagnosed in treated esotropia and in primary microtropia cases, where patients are young and uncooperative.

Method: Video Vision Development Assessment (VVDA) testing, which we have developed and previously described, captures multiple video frames images (30 per second) of the Breuckner red reflection (from the ocular fundus, a test for strabismus and ocular media abnormalities) combined with eccentric photorefraction. This method allows the highly critical discrimination of minimally off axis fixation (abnormal) to be differentiated from true on axis fixation (normal foveation) by the brightness difference in the images.

Congenital pupillary-iris-lens membrane with goniodysgenesis.

Background: A unilateral congenital pupil-iris-lens membrane with goniodysgenesis syndrome, not benign tunica vasculosa lentis, was first described by Cibis et al. One of three cases developed angle closure. Robb described catastrophic vision loss from angle closure in one of his seven cases.

The negative ERG is not synonymous with nightblindness.

Purpose: To provide electroretinographic differentiation between 4 genetically distinct conditions associated with a negative. Schubert Bornschein type electroretinogram (ERG): Complete congenital stationary night blindness (cCSNB), incomplete CSNB (incCSNB), Duchenne muscular dystrophy, and a family with an autosomal dominantly inherited negative ERG.

Methods: ERGs were recorded in all subjects according to the ISCEV standards.

Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity.

Objectives: To characterize a disease-associated haplotype in 7 families with autosomal dominant Stargardt-like macular dystrophy and to determine whether these families share a common ancestor.

Methods: Twenty-five polymorphic DNA markers spanning known dominant Stargardt-like gene loci were used to determine the haplotype associated with disease. In addition, an extensive genealogical investigation searching for a common ancestor shared by all of the 7 families was performed.

Autosomal dominant inheritance of a negative electroretinogram phenotype in three generations.

Purpose: We report an abnormal electroretinogram with a negative configuration in a child who presented with moderate myopia, nystagmus, and visual developmental delay. We investigated the electroretinogram and explored the possibility of a metabotropic glutamate receptor subtype 6 mutation in six family members spanning four generations.

Methods: Case report and family study: Complete eye examinations and Ganzfeld electroretinograms were recorded from the maternal great-grandmother, maternal grandmother, mother, uncle, and sibling of the 7-month-old female proband.

Electroretinography is necessary for spasmus nutans diagnosis.

The purpose of the present study was to determine whether that which clinically appeared to be spasmus nutans could actually represent retinal sensory deficits diagnosable by electroretinography. Eight patients clinically thought to have spasmus nutans underwent electroretinography according to international standards. Five had normal electroretinograms and represented cases of true spasmus nutans.

Clinical and electroretinographic findings in fetal alcohol syndrome.

Purpose: Fetal exposure to alcohol is a serious public health problem and is associated with anomalies of the eye ground, as well as neurodevelopmental delay, growth delay, and characteristic facial features. Our purpose is to report the incidence of abnormal electroretinogram (ERG) results in children with fetal alcohol syndrome and raise awareness of the diagnosis of fetal alcohol syndrome in ophthalmology.

Methods: A retrospective review was performed on the records of 11 children with the diagnosis of fetal alcohol syndrome.

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations.

The dark-adapted electroretinogram (ERG) of patients with Duchenne and Becker muscular dystrophy (DMD/BMD) shows a marked reduction in b-wave amplitude. Genotype-phenotype studies of mouse models for DMD show position-specific effects of the mutations upon the phenotype: mice with 5' defects of dystrophin have normal ERGs, those with defects in the central region have a normal b-wave amplitude associated with prolonged implicit times for both the b-wave and oscillatory potentials, and mice with 3' defects have a phenotype similar to that seen in DMD/BMD patients. The mouse studies suggest a key role for the carboxyl terminal dystrophin isoform, Dp260, in retinal electrophysiology.

Comitant strabismus.

Proprioceptive receptors have long been known anatomically to be present in extraocular muscles, specifically at the myotendinous junction. Their function in regulating smooth pursuits is experimentally demonstrated. The clinical significance of this for strabismus is still unknown.

ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy.

Purpose: Mutations in the dystrophin gene result in Duchenne muscular dystrophy (DMD). DMD is associated with an abnormal electroretinogram (ERG) if the mutation disrupts the translation of retinal dystrophin (Dp260). Our aim was to determine if incomplete ERG abnormalities would be associated with heterozygous carriers of dystrophin gene mutations.

A deletion polymorphism due to Alu-Alu recombination in intron 2 of the retinoblastoma gene: association with human gliomas.

The retinoblastoma gene (RB) encodes a tumor suppressor that is inactivated in a number of different types of cancer. We searched for gross alterations of this gene in tumors of the central nervous system by using Southern blot hybridization. A common alteration was found in several tumors and was mapped to the region around exon 2.

Discordant Duane's retraction syndrome in monozygotic twins.

Purpose: To evaluate whether differences in the intrauterine environment caused discordant Duane's retraction syndrome in monozygotic twins.

Methods: Pathology records were reviewed to determine monozygosity.

Results: Discordant Duane's retraction syndrome was present in twin boys with identical genetic foundations who had different intrauterine environments.

Abnormal electroretinogram associated with developmental brain anomalies.

Purpose: We have encountered abnormal ERGs associated with optic nerve hypoplasia, macular, optic nerve and chorioretinal colobomata and developmental brain anomalies. Brain anomalies include cortical dysgenesis, lissencephaly, porencephaly, cerebellar and corpus callosum hypoplasia. We describe six exemplar cases.

Surgical removal of congenital pupillary-iris-lens membrane.

A pupillary membrane in a case of congenital pupillary-iris-lens membrane with goniodysgenesis was surgically peeled from the lens without causing cataract formation. Histopathology revealed ectopic iris. The ectopic iris found in this condition differentiates congenital pupillary-iris-lens membrane with goniodysgenesis as an entity from persistent pupillary membrane, hereditary goniodysgenesis, and Rieger's anomaly.

Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway.

There have been reports of abnormal retinal neurotransmission determined by electroretinography in boys with Duchenne and Becker muscular dystrophy. Dystrophin may play a role in transmitting signals between photoreceptors and the excitatory synapse of the ON-bipolar cell. These electroretinographic changes appeared to be limited to the rod ON-pathway but we felt there was also similar abnormality in the cone ON-pathway.

The value of flash visual evoked potentials in albinism.

In albinism, the majority of temporal retinal fibers serving the nasal visual field cross at the chiasm and project to the contralateral hemisphere. This misrouting is seen in hemispheric asymmetries present in the visual evoked potential (VEP). Misrouting of retinal fibers was also thought to occur in dissociated vertical deviation, Prader-Willi syndrome, and perhaps carrier states of albinism.

Optic nerve hypoplasia in association with brain anomalies and an abnormal electroretinogram.

Abnormal electroretinograms (decreased amplitude and prolonged implicit time > 2 standard deviations) in several patients with optic nerve hypoplasia (ONH) and developmental brain anomalies led us to study the electroretinogram (ERG) in 34 consecutive cases of ONH presenting to our practice. Ages of the subjects were between 7 months and 13 years (mean, 4 years). ERGs were recorded from each eye by means of a contact lens electrode and ganzfeld stimuli.