Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy
Other names: FEVR (initialism), Criswick-Schepens syndrome
Retina (located at top of diagram)
Pronunciation
  • (initialism) /ˈfiːvər/
Preventiontreatment = laser surgery

Familial exudative vitreoretinopathy (FEVR, pronounced as fever) 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.

Symptoms and signs

a)Stage 5 familial exudative vitreoretinopathy right eye retinal detachment b) Stage 4B familial exudative vitreoretinopathy left eye c) peripheral avascularity with abnormal vessels -left eye

The clinical presentation of this condition is consistent with:[2]

  • Blindness
  • Strabismus
  • Retinal detachment
  • Leukocoria

Causes

Genetic types include:

Type OMIM Gene Locus
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

Diagnosis

Ophthalmic and general history, make up the bulk of the diagnostic process for this condition, as well as, presence of a avascular zone in peripheral retina. Confirmed by molecular genetic testing is done[2]

Treatment

Currently laser surgery can be performed in order to prevent further retinal detachment. Future treatment is possible with genetically tailored medications, and ultimately with genetic modifications.

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.
  2. 1 2 "Familial exudative vitreoretinopathy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 16 June 2018. Retrieved 20 August 2021.
Classification
External resources



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