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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. 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. Presentation 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 (eyelid), ptosis of the eyelids and telecanthus. Associated conditions Blepharophimosis, ptosis, epicanthus inversus syndrome 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 tel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare medical anomaly characterized by the conditions it is named after: blepharophimosis, Ptosis (eyelid), ptosis and epicanthus inversus. There are two types; type 1 is distinguished from type 2 by including the symptom of premature ovarian insufficiency (POI) in females, which causes menopausal symptoms and infertility in patients as young as 15 years old. Signs and symptoms The most prominent symptoms of BPES are horizontally narrow eyes (blepharophimosis), drooping eyelids (ptosis) and a fold of skin running from the side of the nose to the lower eyelid (epicanthus inversus). Other common symptoms include lack of an eyelid fold, an appearance of widely spaced eyes (telecanthus), low nose bridge and ear malformations (including cupping and incomplete development). Rare symptoms include microphthalmos (abnormally small eyes), tear ducts in the wrong location and a high-arched palate. Type 1 BPES is distinguish ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOXL2
Forkhead box protein L2 is a protein that in humans is encoded by the ''FOXL2'' gene. Function FOXL2 (OMIM 605597) is a transcription factor belonging to the forkhead box (FOX) superfamily, characterized by the forkhead box/winged-helix DNA-binding domain. FOXL2 plays an important role in ovarian development and function. In postnatal ovaries FOXL2 regulates granulosa cell differentiation and supports the growth of the pre-ovulatory follicles during adult life. In addition, the FOXL2 protein will prevent the formation of testes by suppressing expression of SOX9. In mice, FOXL2 is also expressed in pituitary cells where it is required for FSH expression. Regulation FOXL2 has several post-translational modifications that modulate its stability, subcellular localization and pro-apoptotic activity. By a yeast-two-hybrid screening, 10 novel protein partners of FOXL2 were discovered. The interactions were confirmed by co-immunoprecipitation experiments between FOXL2 and CXXC4 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palpebral Fissures
The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open eyelids. In simple terms, it is the opening between the eyelids. In adult humans, this measures about 10 mm vertically and 30 mm horizontally. Variations Congenital dysmorphisms It can be reduced (short, "narrow") in horizontal size by fetal alcohol syndrome and in Williams syndrome. The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral fissures to be upslanted, whereas Marfan syndrome can cause a downslant. An increase in vertical height can be seen in genetic disorders such as cri-du-chat syndrome. Acquired The fissure may be increased in vertical height in Graves' disease, which is manifested as Dalrymple's sign. It is seen in disorders such as cri-du-chat syndrome. In animal studies using four times the therapeutic concentration of the ophthalmic solution latanoprost, the size of the palpebral fissure can be increased. The condition i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Telecanthus
Telecanthus, or dystopia canthorum, refers to increased distance between the inner corners of the eyelids (medial canthi), while the inter-pupillary distance is normal. This is in contrast to hypertelorism, in which the distance between the whole eyes is increased. Telecanthus and hypertelorism are each associated with multiple congenital disorders. The distance between the inner corners of the Eyelid, eyelids is called the intercanthal distance. In most people, the intercanthal distance is equal to the width of each eye (the distance between the inner and outer corners of each eye). The average interpupillary distance is 60–62 millimeters (mm), which corresponds to an intercanthal distance of approximately 30–31 mm. ''Traumatic telecanthus'' refers to telecanthus resulting from traumatic injury to the nasal-Orbit (anatomy), orbital-Ethmoid bone, ethmoid (NOE) complex. The diagnosis of traumatic telecanthus requires a measurement in excess of those normative values. The path ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palpebral Fissure
The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open eyelids. In simple terms, it is the opening between the eyelids. In adult humans, this measures about 10 mm vertically and 30 mm horizontally. Variations Congenital dysmorphisms It can be reduced (short, "narrow") in horizontal size by fetal alcohol syndrome and in Williams syndrome. The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral fissures to be upslanted, whereas Marfan syndrome can cause a downslant. An increase in vertical height can be seen in genetic disorders such as cri-du-chat syndrome. Acquired The fissure may be increased in vertical height in Graves' disease, which is manifested as Dalrymple's sign. It is seen in disorders such as cri-du-chat syndrome. In animal studies using four times the therapeutic concentration of the ophthalmic solution latanoprost, the size of the palpebral fissure can be increased. The condi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ptosis (eyelid)
Ptosis, also known as blepharoptosis, is a drooping or falling of the upper eyelid. This condition is sometimes called "lazy eye", but that term normally refers to the condition amblyopia. If severe enough and left untreated, the drooping eyelid can cause other conditions, such as amblyopia or astigmatism, so it is especially important to treat the disorder in children before it can interfere with vision development. Signs and symptoms Signs and symptoms typically seen in this condition include: * The eyelid(s) may appear to droop. * Droopy eyelids can give the face a false appearance of being fatigued, uninterested or even sinister. * The eyelid may not protect the eye as effectively, allowing it to dry. * Sagging upper eyelids can partially block the field of view. * Obstructed vision may necessitate tilting the head backward to speak. * The areas around the eyes may become tired and achy. * Eyebrows may be constantly lifted to see properly. Some of the risk factors for ptos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Premature Ovarian Insufficiency
Primary ovarian insufficiency (POI), also called premature ovarian insufficiency and premature ovarian failure, is the partial or total loss of reproductive and hormonal function of the ovaries before age 40 because of follicular (egg producing area) dysfunction or early loss of eggs. POI can be seen as part of a continuum of changes leading to menopause that differ from age-appropriate menopause in the age of onset, degree of symptoms, and sporadic return to normal ovarian function. POI affects approximately 1 in 10,000 women under age 20, 1 in 1,000 women under age 30, and 1 in 100 of those under age 40. A medical triad for the diagnosis is amenorrhea, hypergonadotropism, and hypoestrogenism. Physical and emotional symptoms are similar to those seen during menopause and can include hot flashes, night sweats, dry skin, vaginal dryness, irregular or absent menstruation, anxiety, depression, mental fog, irritability, nervousness, decreased libido, and increased autoimmune di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ankyloblepharon
Ankyloblepharon is a medical condition, defined as the adhesion of the edges of the upper eyelid with the lower eyelid. Ankyloblepharon must be differentiated from blepharophimosis, in which palpebral aperture is reduced and there is telecanthus, but the eyelid margins are normal. Another condition similar to ankyloblepharon is symblepharon, in which the palpebral conjunctiva is attached to the bulbar conjunctiva. Recognition of ankyloblepharon necessitates systemic examination to detect associated abnormalities such as genitourinary and cardiac abnormalities and syndactyly. Presentation Complication The main complication of congenital ankyloblepharon is amblyopia. Timely separation of the eyelids is very important to avoid the development of occlusion amblyopia. Etiology Ankyloblepharon may be congenital or acquired. The most common type is congenital. Clinically, ankyloblepharon may be complete, partial, or interrupted. Complete ankyloblepharon is when the eyelids are fused thr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epicanthus Inversus
An epicanthic fold or epicanthus is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. However, variation occurs in the nature of this feature and the presence of "partial epicanthic folds" or "slight epicanthic folds" is noted in the relevant literature. Various factors influence whether epicanthic folds form, including ancestry, age, and certain medical conditions. The primary cause of the epicanthic fold is the hypertrophy of the preseptal portion of the orbicularis oculi muscle. Etymology ''Epicanthus'' means 'above the canthus', with epi-canthus being the Latinized form of the Ancient Greek : 'corner of the eye'. Classification Variation in the shape of the epicanthic fold has led to four types being recognised: * ''Epicanthus supraciliaris'' runs from the brow, curving downwards towards the lachrymal sac. * ''Epicanthus palpebralis'' begins above the upper tarsus and extends to the inferior orbital rim. * ''Epicanthus tarsa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectropion
Ectropion is a medical condition in which the lower eyelid turns outwards. It is one of the notable aspects of newborns exhibiting congenital harlequin-type ichthyosis, but ectropion can occur due to any weakening of tissue of the lower eyelid. The condition can be repaired surgery, surgically. Ectropion is also found in dogs as an inherited, developmental condition. Causes *Congenital *Aging *Scarring *Mechanical *Allergic *Facial nerve paralysis, Facial nerve palsy *Anti-cancer treatments such as erlotinib, cetuximab, and panitumumab, which block the function of EGFR (the epidermal growth factor receptor). In dogs Ectropion in dogs usually involves the lower eyelid. Often the condition has no symptoms, but tearing and conjunctivitis may be seen. Breeds associated with ectropion include the St. Bernard (dog), Saint Bernard, the Bloodhound, the Clumber Spaniel, Newfoundland (dog), Newfoundlands, and the Neapolitan Mastiff. It can also result from Physical trauma, trauma or nerv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
