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Diagnosis of epiphora is clinical by history presentation and observation of the lids. Fluorescein dye can be used to examine for punctal reflux by pressing on the canaliculi in which the clinician should note resistance of reflux as it irrigates through the punctum into the nose.
If epiphora is caused by ectropion or entropion, lid repair is indicated. Punctal irrigation is also required. In infants with nasolacrimal defects, a nasolacrimal duct probe is used and a tube replacement, either temporary (Crawford) or permanent (Jones), is carried out. A surgical procedure called a dacryocystorhinostomy is done to join the lacrimal sac to the nasal mucosa in order to restore lacrimal drainage.
A surgeon trained to do eyelid surgery, such as a plastic surgeon or ophthalmologist, is required to decide and perform the appropriate surgical procedure. The following procedures have been described for blepharochalasis:
- External levator aponeurosis tuck
- Blepharoplasty
- Lateral canthoplasty
- Dermis fat grafts
These are used to correct atrophic blepharochalasis after the syndrome has run its course.
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 Cocker Spaniel, the Saint Bernard, the Bloodhound, the Clumber Spaniel, and the Basset Hound. It can also result from trauma or nerve damage. Treatment (surgery) is recommended only if there is chronic conjunctivitis or if there is corneal damage. A small part of the affected lid is removed and then the lid is sewn back together.
Due to the different underlying causes, proper diagnosis, treatment, and prognosis can only be determined by an eye care professional. Punctate epithelial erosions may be treated with artificial tears. In some disorders, topical antibiotic is added to the treatment. Patients should discontinue contact lens wear until recovery.
In all forms of blepharitis, Optometrists or Ophthalmologists examine the tear film, which is the most efficient method in determining instability. The most frequently used method is to measure tear production via tear break-up time (TBUT), which calculates the duration interval between complete blinks. This serves as a primary indication of regional dryness in the pre-corneal tear film after fluorescein injections. If TBUT is shorter than 10 seconds, then this suggests instability.
Staphylococcal blepharitis is diagnosed by examining erythema and edema of the eyelid margin. Patients may exhibit alopecia areata of eyelashes and/or growth misdirection, trichiasis. Other signs may include telangiectasia on the anterior eyelid, collarettes encircling the lash base, and corneal changes. Seborrheic blepharitis is distinguished by less erythema, edema, and telangiectasia of the eyelid margins. Posterior blepharitis and Meibomian Gland Dysfunction are frequently associated with rosacea and can be seen during an ocular examination of the posterior eyelid margin. The meibomian glands may appear caked with oil or visibly obstructed.
Diagnosis of the condition is done via a physical examination under a slit lamp. Cultures of debris are occasionally collected for bacterial or fungal testing.
It is encountered more commonly in younger rather than older individuals.
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 surgically. Ectropion is also found in dogs as a genetic disorder in certain breeds.
The diagnosis of harlequin-type ichthyosis relies on both physical examination and certain laboratory tests.
Physical assessment at birth is vital for the initial diagnosis of harlequin ichthyosis. Physical examination reveals characteristic symptoms of the condition especially the abnormalities in the skin surface of newborns. Abnormal findings in physical assessments usually result in employing other diagnostic tests to ascertain the diagnosis.
Genetic testing is the most specific diagnostic test for harlequin ichthyosis. This test reveals a loss of function mutation on the ABCA12 gene. This gene is important in the regulation of protein synthesis for the development of the skin layer. Mutations in the gene may cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development. Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma-like presentation. ABCA12 is an ATP binding cassette (ABC) transporter, and is a member of a large family of proteins that hydrolyze ATP to transport cargo across membranes. ABCA12 is thought to be a lipid transporter in keratinocytes necessary for lipid transport into lamellar granules during the formation of the lipid barrier.
Biopsy of skin may be done to assess the histologic characteristics of the cells. Histological findings usually reveal hyperkeratotic skin cells, which leads to a thick, white and hard skin layer.
Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. It is also part of a syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome, also called blepharophimosis syndrome, which is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim. Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened; the eyes are also spaced more widely apart than usual, also known as telecanthus.
Vignes (1889) probably first described this entity, a dysplasia of the eyelids.
Overheating: The scaling of the skin prevents normal sweating so hot weather and/or vigorous exercise can cause problems.
Eye problems: The eyelids can be pulled down by the tightness of the skin and this can make eyelids (but usually just the lower one) very red and they are prone to drying and irritation.
Constriction bands: Very rarely children with this condition can have tight bands of skin around their fingers or toes (usually at the tips) that can prevent proper blood circulation to the area.
Hair loss: Severe scaling of the skin on the scalp can lead to patchy loss of hair, but this is rarely permanent.
Blepharophimosis syndrome is an autosomal dominant characterized by blepharophimosis (horizontal shortening of the palpebral fissures), ptosis (upper eyelid drooping, usually with the characteristics of congenital ptosis), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid), and telecanthus (widening of the distance between the medial orbital walls). This syndrome is caused by mutations in the FOXL2 gene, either with premature ovarian failure (BPES type I) or without (BPES type II). It may also be associated with lop ears, ectropion, hypoplasia of superior orbital rims, and hypertelorism.
Constant care is required to moisturise and protect the skin. The hard outer layer eventually peels off, leaving the vulnerable inner layers of the dermis exposed. Early complications result from infection due to fissuring of the hyperkeratotic plates and respiratory distress due to physical restriction of chest wall expansion.
Management includes supportive care and treatment of hyperkeratosis and skin barrier dysfunction. A humidified incubator is generally used. Intubation is often required until nares are patent. Nutritional support with tube feeds is essential until eclabium resolves and infants can begin nursing. Ophthalmology consultation is useful for the early management of ectropion, which is initially pronounced and resolves as scale is shed. Liberal application of petrolatum is needed multiple times a day. In addition, careful debridement of constrictive bands of hyperkeratosis should be performed to avoid digital ischemia. Cases of digital autoamputation or necrosis have been reported due to cutaneous constriction bands. Relaxation incisions have been used to prevent this morbid complication.
In the past, the disorder was nearly always fatal, whether due to dehydration, infection (sepsis), restricted breathing due to the plating, or other related causes. The most common cause of death was systemic infection and sufferers rarely survived for more than a few days. However, improved neonatal intensive care and early treatment with oral retinoids, such as the drug Isotretinoin (Isotrex), may improve survival. Early oral retinoid therapy has been shown to soften scales and encourage desquamation. After as little as two weeks of daily oral isotretinoin, fissures in the skin can heal, and plate-like scales can nearly resolve. Improvement in the eclabium and ectropion can also be seen in a matter of weeks. Children who survive the neonatal period usually evolve to a less severe phenotype, resembling a severe congenital ichthyosiform erythroderma. Patients continue to suffer from temperature dysregulation and may have heat and cold intolerance. Patients can also have generalized poor hair growth, scarring alopecia, contractures of digits, arthralgias, failure to thrive, hypothyroidism, and short stature. Some patients develop a rheumatoid factor-positive polyarthritis. Survivors can also develop fish-like scales and retention of a waxy, yellowish material in seborrheic areas, with ear adhered to the scalp.
The oldest known survivor is Nusrit "Nelly" Shaheen, who was born in 1984 and is in relatively good health as of April 2016. Lifespan limitations have not yet been determined with the new treatments.
A study published in 2011 in the Archives of Dermatology concluded, "Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing."
Management of teeth with PFE can include extractions of affected teeth, followed by orthodontic space closure or placement of a prosthetic implant with a bone graft. This option can only be applied to a single tooth that is affected. If multiple teeth are affected then, a segmental osteotomy may be performed to bring the entire segment into occlusion. However, minimal success has been shown following this procedure. These teeth usually are "non-responsive" to the orthodontic force and studies have shown that ankylosis of these teeth can occur if force applied.
Usually no treatment is indicated for clinically asymptomatic cervical ectropions. Hormonal therapy may be indicated for symptomatic erosion. If it becomes troublesome to the patient, it can be treated by discontinuing oral contraceptives, cryotherapy treatment, or by using ablation treatment under local anaesthetic. Ablation involves using a preheated probe (100 °C) to destroy 3–4 mm of the epithelium. In post-partum erosion, observation and re-examination are necessary for 3 months after labour.
Punctate epithelial erosions may be seen with different disorders:
- Rosacea
- Dry-eye syndrome
- Blepharitis
- Acute bacterial conjunctivitis
- Trauma
- Exposure keratopathy from poor eyelide closure
- Ultraviolet or chemical burn
- Contact lens-related disorder such as toxicity or tight lens syndrome
- Trichiasis
- Entropion or ectropion
- Floppy eyelid syndrome
- Chemotherapy i.e. cytosine arabinoside
- Thygeson's Superficial Punctate Keratopathy
As with all types of ichthyosis, there is no cure but the symptoms can be relieved.
- Moisturizers
- Prevention of overheating
- Eye drops (to prevent the eyes from becoming dried out)
- Systemic Retinoids (isotretinoin and acitretin are very effective, but careful monitoring for toxicity is required. Only severe cases may require intermittent therapy.)
Psychological therapy or support may be required as well.
Floppy eyelid syndrome is a disease whose most prominent features often include floppy upper eyelids that can be easily everted, as well as papillary conjunctivitis. It is often associated with patients with high body mass index and obstructive sleep apnea.
Floppy eyelid syndrome is thought to revolve around the upregulation of elastin-degrading enzymes, as well as mechanical factors. These can cause instability of the eyelid scaffold, resulting in the malposition of the eyelid.
Causes of anisocoria range from benign (normal) to life-threatening conditions.
Clinically, it is important to establish whether anisocoria is more apparent in dim or bright light to clarify whether the larger pupil or smaller pupil is the abnormal one.
- Anisocoria which is worsened (greater asymmetry between the pupils) in the dark suggests the small pupil (which should dilate in dark conditions) is the abnormal pupil and suggests Horner's syndrome or mechanical anisocoria. In Horner's syndrome sympathetic nerve fibers have a defect, therefore the pupil of the involved eye will not dilate in darkness. If the smaller pupil dilates in response to instillation of apraclonidine eye drops, this suggests Horner's syndrome is present.
- Anisocoria which is greater in bright light suggests the larger pupil (which should constrict in bright conditions) is the abnormal pupil. This may suggest Adie tonic pupil, pharmacologic dilation, oculomotor nerve palsy, or damaged iris.
A relative afferent pupillary defect (RAPD) also known as a Marcus Gunn pupil does not cause anisocoria.
Some of the causes of anisocoria are life-threatening, including Horner's syndrome (which may be due to carotid artery dissection) and oculomotor nerve palsy (due to a brain aneurysm, uncal herniation, or head trauma).
If the examiner is unsure whether the abnormal pupil is the constricted or dilated one, and if a one-sided drooping of the eyelid is present then the abnormally sized pupil can be presumed to be the one on the side of the ptosis. This is because Horner's syndrome and oculomotor nerve lesions both cause ptosis.
Anisocoria is usually a benign finding, unaccompanied by other symptoms (physiological anisocoria). Old face photographs of patients often help to diagnose and establish the type of anisocoria.
It should be considered an emergency if a patient develops acute onset anisocoria. These cases may be due to brain mass lesions which cause oculomotor nerve palsy. Anisocoria in the presence of confusion, decreased mental status, severe headache, or other neurological symptoms can forewarn a neurosurgical emergency. This is because a hemorrhage, tumor or another intracranial mass can enlarge to a size where the third cranial nerve (CN III) is compressed, which results in uninhibited dilatation of the pupil on the same side as the lesion.
Cervical ectropion can be associated with excessive but non-purulent vaginal discharge due to the increased surface area of columnar epithelium containing mucus-secreting glands. It may also give rise to post-coital bleeding, as fine blood vessels present within the columnar epithelium are easily traumatised.
Exophoria is particularly common in infancy and childhood, and increases with age.
Exophoria can be caused by several factors, which include:
- Refractive errors - distance and near deviation approximately equal.
- Divergence excess - exodeviation is more than 15 dioptres greater for distance than near deviation.
- Convergence insufficiency - near exodeviation greater than distance deviation.
These can be due to nerve, muscle, or congenital problems, or due to mechanical anomalies. Unlike exotropia, fusion is possible in this condition, causing diplopia to be uncommon.
In mechanical anisocoria, this is the result of damage to the iris dilator muscle, which may be caused by trauma, angle-closure glaucoma, surgery such as cataract removal, or uveitis (inflammation of the eye). Slit lamp examination is often used as a diagnostic aid: damage to the dilator muscle is indicated by anisocoria when light intensity is lowered.Anisocoria refers to a common eye condition in which the two pupils differ in size.
This type of failure of eruption takes place when the affected tooth is ankylosed to the bone around it. This is different than primary failure of eruption where the affected tooth/teeth were not ankylosed. In mechanical failure of eruption, affected tooth has partial or complete loss of PDL in a panoramic radiograph and teeth distal to affected tooth do not have this condition. On a percussion test, a tooth with mechanical failure of eruption will have a dull metallic sound.