Blepharophimosis
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.
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The horizontal palpebral fissure is shortened, causing the eyes to appear spaced more widely apart (telecanthus).
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The horizontal palpebral fissure (eyelid opening) is shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus
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Blepharophimosis forms part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), an autosomal dominant condition.
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Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is an autosomal dominant condition
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There are two known types; type 1 is characterized by premature ovarian insufficiency in women due to shortening of the FOXL2 gene.
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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
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Vignes (1889) probably first described this entity.
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Vignes (1889) probably first described this entity, a dysplasia of the eyelids
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Features include small palpebral fissures, epicanthus inversus, low nasal bridge, ptosis of the eyelids, and telecanthus.
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In addition to small palpebral fissures , features can include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus
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The nasal bridge is flat and there is a hypoplastic orbital rim.
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The nasal bridge is flat and there is a hypoplastic orbital rim
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It may also be associated with lop ears, ectropion, and hypertelorism.
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It may also be associated with lop ears, ectropion and hypertelorism
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Type 1 causes menopausal symptoms in female patients as young as 15 years old.
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which causes menopausal symptoms in patients as young as 15 years old
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Type 1 is associated with premature ovarian insufficiency in women, causing menopausal symptoms as young as 15 years old.
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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
| Blepharophimosis | |
|---|---|
| 18-year-old female with blepharophimosis as a result of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) type 1 | |
| Specialty | Medical genetics |
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. The horizontal palpebral fissure (eyelid opening) is shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.
In addition to small palpebral fissures, features can include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus.[1]
Associated conditions
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.[2] It may also be associated with lop ears, ectropion and hypertelorism.[1]
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.[3][4]
Vignes (1889) probably first described this entity, a dysplasia of the eyelids.[3]
- 1 2 Landau Prat, Daphna; Nguyen, Brian; Strong, Alanna; Katowitz, William; Katowitz, James (July 2021). ""Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis". Clinical & Experimental Ophthalmology. 49 (5): 448–453. doi:10.1111/ceo.13933 – via EBSCO.
- ↑ "blepharophimosis". www.mrcophth.com.
- 1 2 "OMIM Entry - # 110100 - BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES". omim.org. Retrieved 2019-12-27.
- ↑ Grzechocińska, Barbara; Warzecha, Damian; Wypchło, Maria; Ploski, Rafal; Wielgoś, Mirosław (2019-07-31). "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". BMC Medical Genetics. 20 (1): 132. doi:10.1186/s12881-019-0865-0. ISSN 1471-2350. PMC 6670140. PMID 31366388.