Blepharophimosis: Difference between revisions

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{{short description|Congenital anomaly in which the eye openings are small}}
{{Infobox medical condition (new)
| 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]].
{{Infobox medical condition
 
| name            = Blepharophimosis
==Presentation==
| synonyms        = BPES
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.
| field          = [[Ophthalmology]]
 
| symptoms        = Narrowing of the [[palpebral fissure]], [[ptosis]], [[epicanthus inversus]], [[telecanthus]]
==Associated conditions==
| complications  = [[Amblyopia]], [[strabismus]]
 
| onset          = Congenital
=== Blepharophimosis, ptosis, epicanthus inversus syndrome ===
| duration        = Lifelong
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]].
| causes          = Genetic mutation, often in the [[FOXL2]] gene
 
| risks          = Family history of the condition
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>
| diagnosis      = Clinical examination, genetic testing
 
| differential    = [[Ptosis]], [[epicanthus]], other craniofacial syndromes
== History ==
| treatment      = Surgical correction, [[ptosis surgery]], [[strabismus surgery]]
Vignes (1889) probably first described this entity, a dysplasia of the eyelids.<ref name=":0" />
| prognosis      = Generally good with treatment
 
| frequency      = Rare
==References==
{{reflist}}
 
==External links==
{{Medical resources
|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 |
}}
}}
 
{{Short description|A genetic condition affecting the eyelids}}
{{Eye pathology}}
{{Medical condition}}
{{Congenital malformations and deformations of eye, ear, face and neck}}
'''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==
* [[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>

Latest revision as of 22:25, 3 April 2025


Blepharophimosis
Synonyms BPES
Pronounce N/A
Specialty N/A
Symptoms Narrowing of the palpebral fissure, ptosis, epicanthus inversus, telecanthus
Complications Amblyopia, strabismus
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation, often in the FOXL2 gene
Risks Family history of the condition
Diagnosis Clinical examination, genetic testing
Differential diagnosis Ptosis, epicanthus, other craniofacial syndromes
Prevention N/A
Treatment Surgical correction, ptosis surgery, strabismus surgery
Medication N/A
Prognosis Generally good with treatment
Frequency Rare
Deaths N/A


A genetic condition affecting the eyelids




Medical conditions
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Signs and symptoms
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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[edit]

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[edit]

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[edit]

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[edit]

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[edit]

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[edit]

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