Blepharoptosis
Oculomotor Muscles
Myasthenia Gravis, Neonatal
Hallermann's Syndrome
Facial Muscles
Streptococcus constellatus
Ophthalmoplegia
Oculomotor Nerve Diseases
Retarded growth and deficits in the enteric and parasympathetic nervous system in mice lacking GFR alpha2, a functional neurturin receptor. (1/222)
Glial cell line-derived neurotrophic factor (GDNF) and a related protein, neurturin (NTN), require a GPI-linked coreceptor, either GFR alpha1 or GFR alpha2, for signaling via the transmembrane Ret tyrosine kinase. We show that mice lacking functional GFR alpha2 coreceptor (Gfra2-/-) are viable and fertile but have dry eyes and grow poorly after weaning, presumably due to malnutrition. While the sympathetic innervation appeared normal, the parasympathetic cholinergic innervation was almost absent in the lacrimal and salivary glands and severely reduced in the small bowel. Neurite outgrowth and trophic effects of NTN at low concentrations were lacking in Gfra2-/- trigeminal neurons in vitro, whereas responses to GDNF were similar between the genotypes. Thus, GFR alpha2 is a physiological NTN receptor, essential for the development of specific postganglionic parasympathetic neurons. (+info)Congenital myasthenia gravis: clinical and HLA studies in two brothers. (2/222)
Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases. (+info)Results following treatment of third cranial nerve palsy in children. (3/222)
PURPOSE: To investigate the etiology, sensory, motor, and cosmetic results of treatment for oculomotor (CNIII) palsy in children. METHODS: We conducted a retrospective review of the clinical records of children with a diagnosis of CNIII palsy who were followed up in our practice between 1981 and 1996. RESULTS: During the 15-year period, 49 children with 53 affected eyes were followed for a mean of 5.5 years. CNIII palsy was congenital in one third of cases and secondary to postnatal trauma in another third. Thirty-three of the eyes were affected before visual maturation (age 8 years) and 27 eyes developed amblyopia. None of the 6 eyes with amblyopia in which visual acuity could be quantitated had measurable improvement of Snellen acuity after treatment. Overall, visual acuity was between 6/5 and 6/12 at the last follow-up visit in 56% of affected eyes. Ocular alignment was greatly improved after recess-resect procedures on the horizontal rectus muscles, but binocular function was difficult to preserve or restore. Blepharoptosis improved after levator palpebrae muscle resection or eyelid suspension procedures. CONCLUSIONS: CNIII palsy may undergo partial resolution in children, but surgical treatment is frequently necessary. Although surgery can result in cosmetically acceptable alignment of the eyes, it rarely results in restoration or achievement of binocular function. Multiple procedures are often necessary to maintain good ocular alignment. Several surgical procedures may be needed to correct related blepharoptosis and maintain an acceptable eyelid position. Treatment of amblyopia is only effective in maintaining the level of visual acuity present at the onset of the CNIII palsy, and improvement in acuity is difficult to achieve. (+info)CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. (4/222)
PURPOSE: To define the clinical characteristics and determine the gene localization for a previously undescribed form of congenital fibrosis of the extraocular muscles (CFEOM), referred to as CFEOM type 3 (CFEOM3). METHODS: A large family with CFEOM was identified, and participating individuals underwent ophthalmologic examination and donated blood for genetic analysis. The family's disorder was tested for linkage to the known CFEOM loci, followed by a genome-wide search and linkage refinement using polymorphic DNA markers. RESULTS: Thirty-eight members of this Canadian family participated in the study. Affected individuals are born with a nonprogressive eye movement disorder characterized by variable expression of ptosis and restrictive external ophthalmoplegia. Severely affected individuals have ptosis, primary gaze fixed in a hypo- and exotropic position, and marked restriction of eye movement bilaterally. Mildly affected individuals have normally positioned globes with a limitation of vertical gaze. Moderately affected individuals have asymmetrical involvement with one eye severely and one eye mildly affected. The disorder is autosomal dominant with variable expression and probable incomplete penetrance. Genetic analysis reveals linkage to markers on 16q24.2q24.3. A maximum lod score of 5.8 occurs at markers D16S3063 and D16S689, and the CFEOM3 disease gene is located within a 5.6-cM region flanked by D16S486 and D16S671. CONCLUSIONS: These data establish that CFEOM3 is a phenotypically variant and genotypically distinct form of CFEOM with linkage to chromosome 16qter. The authors have previously demonstrated that CFEOM1 results from a developmental absence of the superior division of the oculomotor nerve. The authors hypothesize that CFEOM3 results from a defect analogous to, but distinct from CFEOM1. (+info)Extraocular muscle responses to high dose intravenous methylprednisolone in myasthenia gravis. (5/222)
Three patients with generalised myasthenia gravis and three with ocular myasthenia gravis received two to five courses of high dose intravenous methylprednisolone because of the failure of standard immunomodulating therapies. Changes in myasthenic signs were assessed using a four step system for grading muscle weakness and fatiguability in 10 test items. Although a brief and modest amelioration was found from day 1 to day 2 after the initial infusion in two patients with generalised myasthenia gravis, all three experienced a prolonged phase of worsening followed by improvement before the next course. Conversely, for two of the patients with ocular myasthenia gravis, a transient but dramatic improvement of ptosis and ocular immobility was noted from 90 minutes to 5 hours after initiating the first infusion, followed by mild or no exacerbation. This 3 hour improvement may be related not only to possible differences in the neuromuscular junction, but also to corticosteroids unmasking the central adaptation for the peripheral ocular muscle weakness by increasing the acetylcholine release. (+info)Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region. (6/222)
To clone the goat Polled Intersex Syndrome (PIS) gene(s), a chromosome walk was performed from six entry points at 1q43. This enabled 91 BACs to be recovered from a recently constructed goat BAC library. Six BAC contigs of goat chromosome 1q43 (ICC1-ICC6) were thus constructed covering altogether 4.5 Mb. A total of 37 microsatellite sequences were isolated from this 4.5-Mb region (16 in this study), of which 33 were genotyped and mapped. ICC3 (1500 kb) was shown by genetic analysis to encompass the PIS locus in a approximately 400-kb interval without recombinants detected in the resource families (293 informative meioses). A strong linkage disequilibrium was detected among unrelated animals with the two central markers of the region, suggesting a probable location for PIS in approximately 100 kb. High-resolution comparative mapping with human data shows that this DNA segment is the homolog of the human region associated with Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES) gene located in 3q23. This finding suggests that homologous gene(s) could be responsible for the pathologies observed in humans and goats. (+info)A novel X-linked dominant condition: X-linked congenital isolated ptosis. (7/222)
We present a large family with a previously undescribed condition: X-linked dominant congenital bilateral isolated ptosis. Linkage analysis defined a critical region between Xq24 and Xq27.1, with a maximum single-point LOD score of 2.88 at DXS1047 and DXS984. Male and female family members are equally affected, providing an example of an X-linked, truly dominant condition. (+info)Reoperation in acquired involutional ptosis. (8/222)
Postoperative upper lid asymmetry is a common problem following ptosis surgery. Recently we performed multiple ptosis operative procedures to correct lid asymmetry in the management of a patient with bilateral acquired upper eyelid ptosis. The patient's eyelids were corrected successfully after five procedures. We retrospectively reviewed the treatment of this patient with unsatisfactory results. The medical literature was reviewed for further insight into the common problem of reoperation after ptosis surgery. (+info)Blepharoptosis is a medical term that refers to the drooping or falling of the upper eyelid. It is usually caused by weakness or paralysis of the muscle that raises the eyelid, known as the levator palpebrae superioris. This condition can be present at birth or acquired later in life due to various factors such as aging, nerve damage, eye surgery complications, or certain medical conditions like myasthenia gravis or brain tumors. Blepharoptosis may obstruct vision and cause difficulty with daily activities, and treatment options include eyedrops, eye patches, or surgical correction.
Blepharoplasty is a surgical procedure that involves the removal of excess skin, fat, and muscle from the upper and/or lower eyelids. The primary goal of blepharoplasty is to improve the appearance of the eyes by reducing signs of aging such as drooping eyelids, bags under the eyes, and wrinkles around the eyes.
In an upper blepharoplasty, an incision is made in the natural crease of the upper eyelid, allowing the surgeon to remove excess skin and fat, and sometimes tighten the muscle. In a lower blepharoplasty, an incision may be made just below the lashes or inside the lower lid, depending on whether skin or fat needs to be removed.
Blepharoplasty is typically performed as an outpatient procedure under local anesthesia with sedation or general anesthesia. Recovery time varies but usually includes some swelling and bruising for several days to a week or two. The results of blepharoplasty can be long-lasting, although they may not completely stop the aging process.
Eyelids are the thin folds of skin that cover and protect the front surface (cornea) of the eye when closed. They are composed of several layers, including the skin, muscle, connective tissue, and a mucous membrane called the conjunctiva. The upper and lower eyelids meet at the outer corner of the eye (lateral canthus) and the inner corner of the eye (medial canthus).
The main function of the eyelids is to protect the eye from foreign particles, light, and trauma. They also help to distribute tears evenly over the surface of the eye through blinking, which helps to keep the eye moist and healthy. Additionally, the eyelids play a role in facial expressions and non-verbal communication.
The oculomotor muscles are a group of extraocular muscles that control the movements of the eye. They include:
1. Superior rectus: This muscle is responsible for elevating the eye and helping with inward rotation (intorsion) when looking downwards.
2. Inferior rectus: It depresses the eye and helps with outward rotation (extorsion) when looking upwards.
3. Medial rectus: This muscle adducts, or moves, the eye towards the midline of the face.
4. Inferior oblique: The inferior oblique muscle intorts and elevates the eye.
5. Superior oblique: It extorts and depresses the eye.
These muscles work together to allow for smooth and precise movements of the eyes, enabling tasks such as tracking moving objects, reading, and maintaining visual fixation on a single point in space.
Neonatal Myasthenia Gravis is a condition characterized by muscle weakness in newborn babies, caused by the passive transfer of antibodies from the mother to the fetus. These antibodies target and disrupt the acetylcholine receptors at the neuromuscular junction, which are essential for normal muscle function.
The mother may have myasthenia gravis, an autoimmune disorder that causes muscle weakness due to the production of these harmful antibodies. During pregnancy, these antibodies can cross the placenta and affect the baby's neuromuscular system, leading to symptoms such as weak sucking, poor muscle tone, feeble movements, and respiratory distress.
Neonatal myasthenia gravis is usually temporary and resolves within a few weeks or months as the antibodies are cleared from the baby's circulation. In some cases, treatment with medications that improve neuromuscular transmission, such as anticholinesterase drugs, may be necessary to help manage symptoms until the condition resolves.
Hallermann-Streiff syndrome is a rare genetic disorder characterized by a distinctive combination of skeletal, craniofacial, and skin abnormalities. The main features include a bird-like face with a prominent forehead, small chin, and beaked nose; widely spaced eyes (hypertelorism) with a short eyelid fissure; a thin beak-shaped upper jaw (maxilla); underdeveloped cheekbones (malar hypoplasia); and a small receding lower jaw (micrognathia).
Individuals with Hallermann-Streiff syndrome often have sparse hair, eyebrows, and eyelashes; thin skin; and an increased risk of developing cataracts and other eye abnormalities. They may also have dental anomalies, such as missing or malformed teeth, and a high-arched palate.
Hallermann-Streiff syndrome is caused by mutations in the GJA1 gene, which provides instructions for making a protein called connexin 43. This protein is important for the normal development and function of various tissues, including the bones and skin. The exact role of connexin 43 in the development of Hallermann-Streiff syndrome is not well understood.
Hallermann-Streiff syndrome is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Facial muscles, also known as facial nerves or cranial nerve VII, are a group of muscles responsible for various expressions and movements of the face. These muscles include:
1. Orbicularis oculi: muscle that closes the eyelid and raises the upper eyelid
2. Corrugator supercilii: muscle that pulls the eyebrows down and inward, forming wrinkles on the forehead
3. Frontalis: muscle that raises the eyebrows and forms horizontal wrinkles on the forehead
4. Procerus: muscle that pulls the medial ends of the eyebrows downward, forming vertical wrinkles between the eyebrows
5. Nasalis: muscle that compresses or dilates the nostrils
6. Depressor septi: muscle that pulls down the tip of the nose
7. Levator labii superioris alaeque nasi: muscle that raises the upper lip and flares the nostrils
8. Levator labii superioris: muscle that raises the upper lip
9. Zygomaticus major: muscle that raises the corner of the mouth, producing a smile
10. Zygomaticus minor: muscle that raises the nasolabial fold and corner of the mouth
11. Risorius: muscle that pulls the angle of the mouth laterally, producing a smile
12. Depressor anguli oris: muscle that pulls down the angle of the mouth
13. Mentalis: muscle that raises the lower lip and forms wrinkles on the chin
14. Buccinator: muscle that retracts the cheek and helps with chewing
15. Platysma: muscle that depresses the corner of the mouth and wrinkles the skin of the neck.
These muscles are innervated by the facial nerve, which arises from the brainstem and exits the skull through the stylomastoid foramen. Damage to the facial nerve can result in facial paralysis or weakness on one or both sides of the face.
Ophthalmologic surgical procedures refer to various types of surgeries performed on the eye and its surrounding structures by trained medical professionals called ophthalmologists. These procedures aim to correct or improve vision, diagnose and treat eye diseases or injuries, and enhance the overall health and functionality of the eye. Some common examples of ophthalmologic surgical procedures include:
1. Cataract Surgery: This procedure involves removing a cloudy lens (cataract) from the eye and replacing it with an artificial intraocular lens (IOL).
2. LASIK (Laser-Assisted In Situ Keratomileusis): A type of refractive surgery that uses a laser to reshape the cornea, correcting nearsightedness, farsightedness, and astigmatism.
3. Glaucoma Surgery: Several surgical options are available for treating glaucoma, including laser trabeculoplasty, traditional trabeculectomy, and various drainage device implantations. These procedures aim to reduce intraocular pressure (IOP) and prevent further optic nerve damage.
4. Corneal Transplant: This procedure involves replacing a damaged or diseased cornea with a healthy donor cornea to restore vision and improve the eye's appearance.
5. Vitreoretinal Surgery: These procedures focus on treating issues within the vitreous humor (gel-like substance filling the eye) and the retina, such as retinal detachment, macular holes, or diabetic retinopathy.
6. Strabismus Surgery: This procedure aims to correct misalignment of the eyes (strabismus) by adjusting the muscles responsible for eye movement.
7. Oculoplastic Surgery: These procedures involve reconstructive, cosmetic, and functional surgeries around the eye, such as eyelid repair, removal of tumors, or orbital fracture repairs.
8. Pediatric Ophthalmologic Procedures: Various surgical interventions are performed on children to treat conditions like congenital cataracts, amblyopia (lazy eye), or blocked tear ducts.
These are just a few examples of ophthalmic surgical procedures. The specific treatment plan will depend on the individual's condition and overall health.
Streptococcus constellatus is a type of Gram-positive coccus bacteria that belongs to the Streptococcus anginosus group, also known as the "streptococci of uncertain taxonomic position" or S. milleri group. These bacteria are part of the normal flora in the human mouth, upper respiratory tract, and gastrointestinal tract. However, they can cause opportunistic infections when they enter other parts of the body, particularly in individuals with weakened immune systems.
S. constellatus has been associated with a variety of infections, including abscesses, endocarditis, meningitis, septicemia, and dental and respiratory tract infections. It is important to note that the clinical significance of S. constellatus can vary, as it may sometimes be found as a commensal organism or as part of a polymicrobial infection. Proper identification and antimicrobial susceptibility testing are crucial for appropriate treatment.
Ophthalmoplegia is a medical term that refers to the paralysis or weakness of the eye muscles, which can result in double vision (diplopia) or difficulty moving the eyes. It can be caused by various conditions, including nerve damage, muscle disorders, or neurological diseases such as myasthenia gravis or multiple sclerosis. Ophthalmoplegia can affect one or more eye muscles and can be partial or complete. Depending on the underlying cause, ophthalmoplegia may be treatable with medications, surgery, or other interventions.
The oculomotor nerve, also known as the third cranial nerve (CN III), is responsible for controlling several important eye movements and functions. Oculomotor nerve diseases refer to conditions that affect this nerve and can lead to various symptoms related to eye movement and function. Here's a medical definition of oculomotor nerve diseases:
Oculomotor nerve diseases are a group of medical disorders characterized by the dysfunction or damage to the oculomotor nerve (CN III), resulting in impaired eye movements, abnormalities in pupillary response, and potential effects on eyelid position. These conditions can be congenital, acquired, or traumatic in nature and may lead to partial or complete paralysis of the nerve. Common oculomotor nerve diseases include oculomotor nerve palsy, third nerve ganglionopathies, and compressive oculomotor neuropathies caused by various pathologies such as aneurysms, tumors, or infections.
Blinking is the rapid and repetitive closing and reopening of the eyelids. It is a normal physiological process that helps to keep the eyes moist, protected and comfortable by spreading tears over the surface of the eye and removing any foreign particles or irritants that may have accumulated on the eyelid or the conjunctiva (the mucous membrane that covers the front of the eye and lines the inside of the eyelids).
Blinking is controlled by the facial nerve (cranial nerve VII), which sends signals to the muscles that control the movement of the eyelids. On average, people blink about 15-20 times per minute, but this rate can vary depending on factors such as mood, level of attention, and visual tasks. For example, people tend to blink less frequently when they are concentrating on a visual task or looking at a screen, which can lead to dry eye symptoms.