Publication

Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

,
2011
Journal paper

Abstract

Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.

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,
2011
Journal paper

Abstract

Official source

About this result

Ontological neighbourhood

Health sciences

Ophthalmology: Topics in ophthalmology

Related concepts (14)

Eye tracking is the process of measuring either the point of gaze (where one is looking) or the motion of an eye relative to the head. An eye tracker is a device for measuring eye positions and eye movement. Eye trackers are used in research on the visual system, in psychology, in psycholinguistics, marketing, as an input device for human-computer interaction, and in product design. In addition, eye trackers are increasingly being used for assistive and rehabilitative applications such as controlling wheelchairs, robotic arms, and prostheses.

Eye movement includes the voluntary or involuntary movement of the eyes. Eye movements are used by a number of organisms (e.g. primates, rodents, flies, birds, fish, cats, crabs, octopus) to fixate, inspect and track visual objects of interests. A special type of eye movement, rapid eye movement, occurs during REM sleep. The eyes are the visual organs of the human body, and move using a system of six muscles. The retina, a specialised type of tissue containing photoreceptors, senses light.

Eye movement in reading involves the visual processing of written text. This was described by the French ophthalmologist Louis Émile Javal in the late 19th century. He reported that eyes do not move continuously along a line of text, but make short, rapid movements (saccades) intermingled with short stops (fixations). Javal's observations were characterised by a reliance on naked-eye observation of eye movement in the absence of technology.

Related publications (33)

Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

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Assessing Experiences and Visual Perception in Train Station Environments with a Mobile Application and Eye Tracking

3-Dimensional magnetic resonance imaging of the freely moving human eye

Long-lasting feature integration

Long-lasting feature integration

Assessing Experiences and Visual Perception in Train Station Environments with a Mobile Application and Eye Tracking

3-Dimensional magnetic resonance imaging of the freely moving human eye