Familial exudative vitreoretinopathy: Difference between revisions

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{{Infobox medical condition (new)
{{Short description|A genetic disorder affecting the retina}}
| name            = Familial exudative vitreoretinopathy
| synonyms        = FEVR <small>(initialism)</small>, Criswick-Schepens syndrome
| image          = Three Main Layers of the Eye.png
| alt            =
| caption        = Retina (located at top of diagram)
| pronounce      = <small>(initialism)</small> {{IPAc-en|ˈ|f|iː|v|ər}}
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| risks          =
| diagnosis      =
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}}
'''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.<ref name="pmid20738858">{{cite journal |author=Shastry BS |title=Genetic susceptibility to advanced retinopathy of prematurity (ROP) |journal=J. Biomed. Sci. |volume=17 |issue= |pages=69 |year=2010 |pmid=20738858 |pmc=2933676 |doi=10.1186/1423-0127-17-69 |url=}}</ref>  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==
'''Familial exudative vitreoretinopathy''' (FEVR) is a rare genetic disorder that affects the [[retina]], the light-sensitive tissue at the back of the [[eye]]. This condition is characterized by incomplete development of the retinal blood vessels, leading to a range of [[vision]] problems.
Genetic types include:


{| class="wikitable"
==Pathophysiology==
|-
FEVR is caused by mutations in genes that are involved in the development and maintenance of the retinal vasculature. These genes include [[NDP]], [[FZD4]], [[LRP5]], [[TSPAN12]], and others. The mutations lead to abnormal blood vessel growth and can result in [[retinal detachment]], [[vitreous hemorrhage]], and [[neovascularization]].
! Type
! [[OMIM]]
! Gene
! Locus
|-
|  EVR1
| {{OMIM2|133780}}
| ''[[FZD4]]''
| 11q14-q21
|-
|  EVR2
| {{OMIM2|305390}}
| ''[[NDP (gene)|NDP]]''
| Xp11.4
|-
| EVR3
| {{OMIM2|605750}}
|? (exact gene unknown)
| 11p13-p12
|-
| EVR4
| {{OMIM2|601813}}
| ''[[LRP5]]''
| 11q13.4
|-
| EVR5
| {{OMIM2|613310}}
| ''[[TSPAN12]]''
| 7q31
|-
| EVR6
| {{OMIM2|616468}}
| ''[[ZNF408]]''
| 11p11.2
|-
| EVR7
| {{OMIM2|617572}}
| ''[[CTNNB1]]''
| 3p22.1
|}


==References==
==Clinical Features==
{{reflist}}
The clinical presentation of FEVR can vary widely, even among members of the same family. Common symptoms include:
* Reduced [[visual acuity]]
* [[Strabismus]] (misalignment of the eyes)
* [[Leukocoria]] (white pupillary reflex)
* [[Retinal detachment]]
* [[Vitreous hemorrhage]]


== External links ==
Some individuals may be asymptomatic, while others may experience severe vision loss.
{{Medical resources
| ICD10          = H35.0
| ICD9            = <!--{{ICD9|xxx}}-->
| ICDO            =
| OMIM            = 133780
| DiseasesDB      =
| MedlinePlus    =
| eMedicineSubj  =
| eMedicineTopic  =
| MeSH            = C536382
| GeneReviewsNBK  =
| GeneReviewsName =
| Orphanet        = 891
| MeshID          = C580083
}}


==Diagnosis==
Diagnosis of FEVR is based on clinical examination and imaging studies. [[Fluorescein angiography]] is often used to assess the retinal vasculature. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.


==Genetics==
FEVR is inherited in an [[autosomal dominant]], [[autosomal recessive]], or [[X-linked]] manner, depending on the gene involved. The most common form is autosomal dominant, which means a single copy of the mutated gene can cause the disorder.


==Management==
Management of FEVR focuses on monitoring and treating complications. This may include:
* Regular ophthalmologic examinations
* [[Laser photocoagulation]] to prevent retinal detachment
* [[Vitrectomy]] surgery for severe cases
* Genetic counseling for affected families


* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fevr GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant]
==Prognosis==
* [https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=vitreoretinopathy/ NCBI Genetic Testing Registry]
The prognosis for individuals with FEVR varies. Early detection and treatment of complications can help preserve vision. However, some individuals may experience progressive vision loss despite treatment.


==Related pages==
* [[Retina]]
* [[Retinal detachment]]
* [[Genetic disorders]]
* [[Ophthalmology]]


{{Congenital malformations and deformations of eye}}
[[Category:Genetic disorders]]
{{Cell surface receptor deficiencies}}
[[Category:Ophthalmology]]
{{Other cell membrane protein disorders}}
 
[[Category:Blindness]]
[[Category:Disorders of choroid and retina]]
{{dictionary-stub1}}
<gallery>
File:Human_eye_cross_section_detached_retina.svg|Cross section of human eye with detached retina
File:Human_eye_cross-sectional_view_grayscale.png|Grayscale cross-sectional view of human eye
File:Photocoagulation.png|Photocoagulation procedure illustration
</gallery>

Latest revision as of 19:16, 22 March 2025

A genetic disorder affecting the retina


Familial exudative vitreoretinopathy (FEVR) is a rare genetic disorder that affects the retina, the light-sensitive tissue at the back of the eye. This condition is characterized by incomplete development of the retinal blood vessels, leading to a range of vision problems.

Pathophysiology[edit]

FEVR is caused by mutations in genes that are involved in the development and maintenance of the retinal vasculature. These genes include NDP, FZD4, LRP5, TSPAN12, and others. The mutations lead to abnormal blood vessel growth and can result in retinal detachment, vitreous hemorrhage, and neovascularization.

Clinical Features[edit]

The clinical presentation of FEVR can vary widely, even among members of the same family. Common symptoms include:

Some individuals may be asymptomatic, while others may experience severe vision loss.

Diagnosis[edit]

Diagnosis of FEVR is based on clinical examination and imaging studies. Fluorescein angiography is often used to assess the retinal vasculature. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.

Genetics[edit]

FEVR is inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the gene involved. The most common form is autosomal dominant, which means a single copy of the mutated gene can cause the disorder.

Management[edit]

Management of FEVR focuses on monitoring and treating complications. This may include:

  • Regular ophthalmologic examinations
  • Laser photocoagulation to prevent retinal detachment
  • Vitrectomy surgery for severe cases
  • Genetic counseling for affected families

Prognosis[edit]

The prognosis for individuals with FEVR varies. Early detection and treatment of complications can help preserve vision. However, some individuals may experience progressive vision loss despite treatment.

Related pages[edit]

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