Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) (English pronunciation: /ˈfēvər/, US dict: fēvər) 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.

Causes

Genetic types include:

Type	OMIM	Gene	Locus
EVR1	133780	FZD4	11q14-q21
EVR2	305390	NDP	Xp11.4
EVR3	605750	?	11p13-p12
EVR4	601813	LRP5	11q13.4
EVR5	613310	TSPAN12	7q31

References

↑ 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.

External links

Congenital malformations and deformations of eyes (Q10–Q15, 743)

Adnexa

Eyelid	Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon

Lacrimal apparatus	Congenital lacrimal duct obstruction

Globe

Entire eye	Anophthalmia (Cystic eyeball, Cryptophthalmos) Microphthalmia

Lens	Ectopia lentis Aphakia

Iris	Aniridia

Anterior segment	Axenfeld syndrome

Cornea	Keratoglobus Megalocornea

Other	Buphthalmos Coloboma (Coloboma of optic nerve) Hydrophthalmos Norrie disease

Cell surface receptor deficiencies

G protein-coupled receptor
(including hormone)

Class A	TSHR (Congenital hypothyroidism 1) LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty) FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis) GnRHR (Gonadotropin-releasing hormone insensitivity) EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) AVPR2 (Nephrogenic diabetes insipidus 1) PTGER2 (Aspirin-induced asthma)

Class B	PTH1R (Jansen's metaphyseal chondrodysplasia)

Class C	CASR (Familial hypocalciuric hypercalcemia)

Class F	FZD4 (Familial exudative vitreoretinopathy 1)

Enzyme-linked receptor
(including
growth factor)

RTK	ROR2 (Robinow syndrome) FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome) FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome) FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis) KIT (KIT Piebaldism, Gastrointestinal stromal tumor)

STPK	AMHR2 (Persistent Müllerian duct syndrome II) TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) TGFBR1/TGFBR2 (Loeys–Dietz syndrome)

GC	GUCY2D (Leber's congenital amaurosis 1)

JAK-STAT

MPL (Congenital amegakaryocytic thrombocytopenia)

TNF receptor

TNFRSF1A (TNF receptor associated periodic syndrome)
TNFRSF13B (Selective immunoglobulin A deficiency 2)
TNFRSF5 (Hyper-IgM syndrome type 3)
TNFRSF13C (CVID4)
TNFRSF13B (CVID2)
TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)

Lipid receptor

LRP: LRP2 (Donnai–Barrow syndrome)
LRP4 (Cenani–Lenz syndactylism)
LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)

LDLR (LDLR Familial hypercholesterolemia)

Other/ungrouped

Immunoglobulin superfamily: AGM3, 6

EDAR (EDAR hypohidrotic ectodermal dysplasia)

See also: cell surface receptors

Cell membrane protein disorders (other than Cell surface receptor, enzymes, and cytoskeleton)

Arrestin

Oguchi disease 1

Myelin

Pulmonary surfactant

Surfactant metabolism dysfunction 1, 2

Cell adhesion molecule

IgSF CAM:

OFC7

Cadherin:	DSG1 Striate palmoplantar keratoderma 1

DSG2 Arrhythmogenic right ventricular dysplasia 10 DSG4 LAH1 DSC2 Arrhythmogenic right ventricular dysplasia 11

Integrin:

cell surface receptor deficiencies

Tetraspanin

Other

See also other cell membrane proteins

This article is issued from Wikipedia - version of the 10/28/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.