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Relevant diseases: - Anophthalmia/microphthalmia Anophthalmia (clinical absence of the eye) and severe microphthalmia (congenital reduction in the overall size of the globe) represent clinically significant inborn errors of early development.
Inclusion Criteria
- Unilateral or bilateral anophthalmia or microphthalmia
Exclusion Criteria
Prior Genetic Testing
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: - Genome-wide copy number variation (e.g. aCGH, SNP array or other genomic microarray) - SOX2, OTX2 (severe, bilateral cases)
Closing Statement
These requirements will be kept under continual review during the main programme and may be subject to change.
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Microphthalmia
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Anophthalmia
Absence of the globe or eyeball.
Visual impairment
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Iris coloboma
A coloboma of the iris.
Retinal coloboma
A notch or cleft of the retina.
Chorioretinal coloboma
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Optic nerve coloboma
A cleft of the optic nerve that extends inferiorly. Comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure.
Abnormality of the anterior segment of the globe
An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). Comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens.
Anterior segment dysgenesis
Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. Comment: In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures.
Aplasia/Hypoplasia of the lens
Absence or underdevelopment of the lens.
Sclerocornea
A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
Central opacification of the cornea
Reduced transparency of the central portion of the corneal stroma.
Cataract
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Comment: Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity).
Total cataract
A Congenital cataract characterized by an opacity of all the fibers of a lens.
Nuclear cataract
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
Cortical cataract
A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
Membranous cataract
A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.
Polar cataract
A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.
Subcapsular cataract
A cataract that affects the region of the lens directly beneath the capsule of the lens.
Lamellar cataract
A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.
Pulverulent cataract
A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. Comment: The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color.
Abnormality of the posterior segment of the globe
The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve.
Abnormality of the fovea
An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.
Aplasia/Hypoplasia of the optic nerve
Optic nerve dysplasia
The presence of developmental dysplasia of the optic nerve.
Retinal dysplasia
The presence of developmental dysplasia of the retina. Comment: This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately.
Remnants of the hyaloid vascular system
Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.
Maternal fever in pregnancy
The occurence of an elevated body temperature of the mother during pregnancy. Comment: There is evidence to suugest that maternal fever during pregnancy may negatively affect offspring healthneural tube defects, congenital heart defects, and oral clefts, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester.
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- Ocular Pressure
- Ocular Malformation Metrics
- General Imaging Diagnostics
General imaging diagnostics report to capture reports that aren't included in the specific subclasses. Inherits all the elements in the abstract Imaging Diagnostics class and the abstract Investigation Class.
- Visual Acuity
A measure of central vision