Familial exudative vitreoretinopathy

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Familial exudative vitreoretinopathy
SynonymsCriswick-Schepens syndrome
Three Main Layers of the Eye.png
Retina(located at top of diagram)
Specialty Ophthalmology   Blue pencil.svg

Familial exudative vitreoretinopathy (FEVR) ( /ˈfvər/ FEE-vər) is a genetic disorder affecting the growth and development of blood vessels in the retina of the eye. [1] This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by exudative leakage and hemorrhage of the blood vessels in the retina, along with incomplete vascularization of the peripheral retina. The disease process can lead to retinal folds, tears, and detachments.

Genetic disorder disease that has material basis in genetic variations in the human genome

A genetic disorder is a genetic problem caused by one or more abnormalities formed in the genome. Most genetic disorders are quite rare and affect one person in every several thousands or millions. The earliest known genetic condition in a hominid was in the fossil species Paranthropus robustus, with over a third of individuals displaying Amelogenesis imperfecta.

Retina light-sensitive organ in the eye

The retina is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which translates that image into electrical neural impulses to the brain to create visual perception, the retina serving a function analogous to that of the film or image sensor in a camera.

Contents

Causes

Genetic types include:

Type OMIM GeneLocus
EVR1 133780 FZD4 11q14-q21
EVR2 305390 NDP Xp11.4
EVR3 605750 ? (exact gene unknown)11p13-p12
EVR4 601813 LRP5 11q13.4
EVR5 613310 TSPAN12 7q31
EVR6 616468 ZNF408 11p11.2
EVR7 617572 CTNNB1 3p22.1

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FEVR may refer to:

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Vitreoretinopathy may refer to:

References

  1. Shastry BS (2010). "Genetic susceptibility to advanced retinopathy of prematurity (ROP)". J. Biomed. Sci. 17: 69. doi:10.1186/1423-0127-17-69. PMC   2933676 . PMID   20738858.
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