Blepharophimosis: Difference between revisions

From WikiMD's Medical Encyclopedia

← Older editNewer edit →
CSV import
CSV import
Line 1: Line 1:
{{short description|Congenital anomaly in which the eye openings are small}}
{{Short description|A genetic condition affecting the eyelids}}
{{Infobox medical condition (new)
{{Medical condition}}
| name            = Blepharophimosis
| image          =Blepharophimosis.png 
| caption        =18-year-old female with blepharophimosis as a result of [[blepharophimosis, ptosis, epicanthus inversus syndrome]] (BPES) type 1
| pronounce      = 
| field          = [[Medical genetics]]
| synonyms        = 
| symptoms        =
| complications  =
| onset          =
| duration        =
| types          =
| causes          =
| risks          =
| diagnosis      =
| differential    =
| prevention      =
| treatment      =
| medication      =
| prognosis      =
| frequency      =
| deaths          =
|alt=}}


'''Blepharophimosis''' is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal [[palpebral fissures]] (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as [[telecanthus]].
'''Blepharophimosis''' is a congenital condition characterized by the abnormal development of the eyelids. It is part of a syndrome known as [[Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome]] (BPES), which affects the eyes and sometimes other parts of the body.


==Presentation==
==Signs and Symptoms==
In addition to small [[palpebral fissure]]s, features can include [[epicanthus inversus]] (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, [[Ptosis (eyelid)|ptosis]] of the eyelids and telecanthus.
Blepharophimosis is primarily identified by the following features:


==Associated conditions==
* '''Blepharophimosis''': A horizontal narrowing of the palpebral fissures, resulting in reduced width of the eye openings.
* '''Ptosis''': Drooping of the upper eyelids, which can impair vision if severe.
* '''Epicanthus inversus''': An upward fold of the skin of the lower eyelid near the inner corner of the eye.
* '''Telecanthus''': An increased distance between the inner corners of the eyes.


=== Blepharophimosis, ptosis, epicanthus inversus syndrome ===
These features can vary in severity among individuals with the condition.
Blepharophimosis forms a part of [[blepharophimosis, ptosis, epicanthus inversus syndrome]] (BPES), also called blepharophimosis syndrome, which is an [[autosomal dominant]] condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner corners of the eyelids). The nasal bridge is flat and there is a hypoplastic orbital rim.<ref>{{Cite web|url=http://www.mrcophth.com/ptosis/blepharophimosis.html|title=blepharophimosis|last=|first=|date=|website=www.mrcophth.com|url-status=live|archive-url=|archive-date=|access-date=}}</ref> It may also be associated with lop ears, [[ectropion]] and [[hypertelorism]].


There are two known types, type 1 and type 2. Although research is limited, it is known that type 1 and 2 are expressed with the same symptoms mentioned above, but type 1 also has the characteristic of [[premature ovarian insufficiency]] (POI) in women, which causes [[menopausal]] symptoms in patients as young as 15 years old. This is due to the shortening of the ''[[FOXL2]]'' gene.<ref name=":0">{{Cite web|url=https://omim.org/entry/110100|title=OMIM Entry - # 110100 - BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES|website=omim.org|access-date=2019-12-27}}</ref><ref>{{Cite journal|last=Grzechocińska|first=Barbara|last2=Warzecha|first2=Damian|last3=Wypchło|first3=Maria|last4=Ploski|first4=Rafal|last5=Wielgoś|first5=Mirosław|date=2019-07-31|title=Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report|journal=BMC Medical Genetics|language=en|volume=20|issue=1|pages=132|doi=10.1186/s12881-019-0865-0|issn=1471-2350|pmc=6670140|pmid=31366388}}</ref>
==Genetics==
Blepharophimosis is often inherited in an [[autosomal dominant]] pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. The condition is most commonly associated with mutations in the [[FOXL2]] gene, which plays a crucial role in the development of the eyelids and other facial structures.


== History ==
==Diagnosis==
Vignes (1889) probably first described this entity, a dysplasia of the eyelids.<ref name=":0" />
Diagnosis of blepharophimosis is typically made based on clinical examination and the characteristic features of the eyelids. Genetic testing can confirm the diagnosis by identifying mutations in the FOXL2 gene.


==References==
==Treatment==
{{reflist}}
Management of blepharophimosis often involves surgical intervention to correct the eyelid abnormalities. Surgery may include:


==External links==
* '''Ptosis repair''': To elevate the drooping eyelids and improve vision.
{{Medical resources
* '''Canthoplasty''': To correct the telecanthus and improve the appearance of the eyes.
|DiseasesDB    = 33297 |
|ICD10          = {{ICD10|H|02|5|h|00}}, {{ICD10|Q|10|3|q|10}} |
|ICD9          = {{ICD9|374.46}}, {{ICD9|743.62}} |
|ICDO          = |
|OMIM          = 110100 |
|MedlinePlus    = |
|eMedicineSubj  = |
|eMedicineTopic = |
|MeshID        = D016569 |
}}


{{Eye pathology}}
Surgical treatment is usually tailored to the individual needs of the patient and may require multiple procedures over time.
{{Congenital malformations and deformations of eye, ear, face and neck}}
 
==Prognosis==
With appropriate surgical treatment, individuals with blepharophimosis can achieve improved eyelid function and appearance. However, ongoing monitoring and care may be necessary to address any additional complications or related conditions.
 
==Related Pages==
* [[Ptosis (eyelid)]]
* [[Epicanthus]]
* [[Genetic disorder]]
* [[FOXL2]]


[[Category:Congenital disorders of eyes]]
[[Category:Congenital disorders of eyes]]
[[Category:Disorders of eyelid, lacrimal system and orbit]]
[[Category:Genetic disorders]]
{{stub}}
[[Category:Ophthalmology]]
<gallery>
File:Blepharophimosis.png|Blepharophimosis
</gallery>

Revision as of 19:25, 22 March 2025

A genetic condition affecting the eyelids




Medical conditions
General
By system
Signs and symptoms
Treatments
Related
This medical condition related article is a stub. You can help WikiMD by expanding it.



Blepharophimosis is a congenital condition characterized by the abnormal development of the eyelids. It is part of a syndrome known as Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES), which affects the eyes and sometimes other parts of the body.

Signs and Symptoms

Blepharophimosis is primarily identified by the following features:

  • Blepharophimosis: A horizontal narrowing of the palpebral fissures, resulting in reduced width of the eye openings.
  • Ptosis: Drooping of the upper eyelids, which can impair vision if severe.
  • Epicanthus inversus: An upward fold of the skin of the lower eyelid near the inner corner of the eye.
  • Telecanthus: An increased distance between the inner corners of the eyes.

These features can vary in severity among individuals with the condition.

Genetics

Blepharophimosis is often inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. The condition is most commonly associated with mutations in the FOXL2 gene, which plays a crucial role in the development of the eyelids and other facial structures.

Diagnosis

Diagnosis of blepharophimosis is typically made based on clinical examination and the characteristic features of the eyelids. Genetic testing can confirm the diagnosis by identifying mutations in the FOXL2 gene.

Treatment

Management of blepharophimosis often involves surgical intervention to correct the eyelid abnormalities. Surgery may include:

  • Ptosis repair: To elevate the drooping eyelids and improve vision.
  • Canthoplasty: To correct the telecanthus and improve the appearance of the eyes.

Surgical treatment is usually tailored to the individual needs of the patient and may require multiple procedures over time.

Prognosis

With appropriate surgical treatment, individuals with blepharophimosis can achieve improved eyelid function and appearance. However, ongoing monitoring and care may be necessary to address any additional complications or related conditions.

Related Pages

Retrieved from "https://wikimd.org/index.php?title=Blepharophimosis&oldid=6534415"