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The number of cases is around 0.5 to 0.7 per 10,000 births, making it a relatively rare condition.
Colobomas can be associated with a mutation in the "PAX2" gene.
Eye abnormalities have been shown to occur in over 90% of children with fetal alcohol syndrome.
Use of high doses of opioid drugs such as morphine, oxycodone, heroin, or hydrocodone can cause ptosis. Pregabalin (Lyrica), an anticonvulsant drug, has also been known to cause mild ptosis.
Ptosis occurs due to dysfunction of the muscles that raise the eyelid or their nerve supply (oculomotor nerve for levator palpebrae superioris and sympathetic nerves for superior tarsal muscle). It can affect one eye or both eyes and is more common in the elderly, as muscles in the eyelids may begin to deteriorate. One can, however, be born with ptosis. Congenital ptosis is hereditary in three main forms. Causes of congenital ptosis remain unknown. Ptosis may be caused by damage/trauma to the muscle which raises the eyelid, damage to the superior cervical sympathetic ganglion or damage to the nerve (3rd cranial nerve (oculomotor nerve)) which controls this muscle. Such damage could be a sign or symptom of an underlying disease such as diabetes mellitus, a brain tumor, a pancoast tumor (apex of lung) and diseases which may cause weakness in muscles or nerve damage, such as myasthenia gravis or Oculopharyngeal muscular dystrophy. Exposure to the toxins in some snake venoms, such as that of the black mamba, may also cause this effect.
Ptosis can be caused by the aponeurosis of the levator muscle, nerve abnormalities, trauma, inflammation or lesions of the lid or orbit. Dysfunctions of the levators may occur as a result of autoimmune antibodies attacking and eliminating the neurotransmitter.
Ptosis may be due to a myogenic, neurogenic, aponeurotic, mechanical or traumatic cause and it usually occurs isolated, but may be associated with various other conditions, like immunological, degenerative, or hereditary disorders, tumors, or infections
Acquired ptosis is most commonly caused by aponeurotic ptosis. This can occur as a result of senescence, dehiscence or disinsertion of the levator aponeurosis. Moreover, chronic inflammation or intraocular surgery can lead to the same effect. Also, wearing contact lenses for long periods of time is thought to have a certain impact on the development of this condition.
Congenital neurogenic ptosis is believed to be caused by the Horner syndrome. In this case, a mild ptosis may be associated with ipsilateral ptosis, iris and areola hypopigmentation and anhidrosis due to the paresis of the Mueller muscle. Acquired Horner syndrome may result after trauma, neoplastic insult, or even vascular disease.
Ptosis due to trauma can ensue after an eyelid laceration with transection of the upper eyelid elevators or disruption of the neural input.
Other causes of ptosis include eyelid neoplasms, neurofibromas or the cicatrization after inflammation or surgery. Mild ptosis may occur with aging.
A drooping eyelid can be one of the first signals of a third nerve palsy due to a cerebral aneurysm, that otherwise is asymptomatic and referred to as an oculomotor nerve palsy.
Cherry eye is a disorder of the nictitating membrane (NM), also called the third eyelid, present in the eyes of dogs and cats. Cherry eye is most often seen in young dogs under the age of two. Common misnomers include adenitis, hyperplasia, adenoma of the gland of the third eyelid; however, cherry eye is not caused by hyperplasia, neoplasia, or primary inflammation. In many species, the third eyelid plays an essential role in vision by supplying oxygen and nutrients to the eye via tear production. Normally, the gland can evert without detachment. Cherry eye results from a defect in the retinaculum which is responsible for anchoring the gland to the periorbita. This defect causes the gland to prolapse and protrude from the eye as a red fleshy mass. Problems arise as sensitive tissue dries out and is subjected to external trauma Exposure of the tissue often results in secondary inflammation, swelling, or infection. If left untreated, this condition can lead to Keratoconjunctivitis sicca (KCS) and other complications.
Nocturnal lagophthalmos is the inability to close the eyelids during sleep. It may reduce the quality of sleep, cause exposure-related symptoms or, if severe, cause corneal damage (exposure keratopathy). The degree of lagophthalmos can be minor (obscure lagophthalmos), or quite obvious.
It is often caused by an anomaly of the eyelid that prevents full closure. Treatment may involve surgery to correct the malposition of the eyelid(s). Punctal plugs may be used to increase the amount of lubrication on the surface of the eyeball by blocking some of the tear drainage ducts. Eye drops may also be used to provide additional lubrication or encourage the eyes to increase tear production.
The condition is not widely understood; in at least one instance a passenger was removed from a US Airways flight because of it.
Lagophthalmos is the inability to close the eyelids completely.
Blinking covers the eye with a thin layer of tear fluid, thereby promoting a moist environment necessary for the cells of the exterior part of the eye. The tears also flush out foreign bodies and wash them away. This is crucial to maintain lubrication and proper eye health. If this process is impaired, as in lagophthalmos, the eye can suffer abrasions and infections. Lagopthalmos leads to corneal drying and ulceration.
Cherry eye is most common in young dogs, especially breeds such as Cavalier King Charles Spaniel, English Bulldog, Lhasa Apso, Shih Tzu, West Highland White Terrier, Pug, Bloodhound, American Cocker Spaniel, and Boston Terrier Cherry eye is rare in felines, but can occur. This defect is most common in the Burmese breed of felines. A similar condition exists in dwarf lop-eared rabbits, which occurs in the harderian gland. Similar surgical treatment is necessary.
Cherry eye is not considered a genetic problem, as no proof of inheritance has been determined. The NM contains many glands which merge and appear as a single gland. Typically, glands secrete tears for lubrication of the cornea. Lack of anchoring allows the gland to flip up, causing the gland to prolapse.
Symptoms include a visible fleshy mass, abnormal tear production, and a discharge or drainage from the eye. Cherry eye is typically diagnosed by examination of the conjunctiva and nictitating membrane. The most obvious symptom of cherry eye is a round fleshy mass through medial canthus of the eye, similar in appearance to the fruit it is named for. This mass may be unilateral or ‘’bilateral’’. Both eyes may develop cherry eye at different times in the animal’s life. Other symptoms of cherry eye include drainage from the eye and abnormal tear production. Initially, cherry eye results in overproduction of tears, but eventually changes to unsubstantial tear production.
It is known to occur in Scotch Collies (smooth and rough collies), Shetland Sheepdogs, Australian Shepherds, Border Collies, Lancashire Heelers, and Nova Scotia Duck Tolling Retrievers. Frequency is high in Collies and Shetland Sheepdogs, and low in Border Collies and NSDTRs. In the United States, incidence in the genotype of collies has been estimated to be as high as 95 percent, with a phenotypic incidence of 80 to 85 percent.
Entropion has been documented in most dog breeds, although there are some breeds (particularly purebreds) that are more commonly affected than others. These include the Akita, Pug, Chow Chow, Shar Pei, St. Bernard, Cocker Spaniel, Boxer, English Springer Spaniel, Welsh Springer Spaniel, Labrador Retriever, Cavalier King Charles Spaniel, Neapolitan Mastiff, Bull Mastiff, Great Dane, Irish Setter, Shiba Inu, Rottweiler, Poodle and particularly Bloodhound. The condition is usually present by six months of age. If left untreated, the condition can cause such trauma to the eye that it will require removal.
Entropion has also been seen in cat breeds. Typically it is secondary to trauma, or infection leading to chronic eyelid changes. It is also seen secondary to enophthalmos. Congenital cases are also seen with the brachicephalic breeds being over represented.
Upper lid entropion involves the eyelashes rubbing on the eye, but the lower lid usually has no eyelashes, so little or no hair rubs on the eye. Surgical correction is used in more severe cases. A number of techniques for surgical correction exist. The Hotz-Celsus technique involves the removal of strip of skin and orbicularis oculi muscle parallel to the affected portion of the lid and then the skin is sutured.
Alternative techniques such as the Wyman technique focus on tightening the lower eyelid, this technique is not as effective in cases of enophthalmos.
Shar Peis, who often are affected as young as two or three weeks old, respond well to temporary eyelid tacking. The entropion is often corrected after three to four weeks, and the sutures are removed.
Dermatochalasis commonly affects the elderly, although sometimes it is congenitally acquired. The elderly version may begin to develop as early as 40 years of age, and it continues to progress with age. The congenital version may begin around 20 years of age. There is no racial predisposition towards developing dermatochalasis, and men and women are equally affected.
CEA is caused by improper development of the eye. Failure of the cells of the posterior portion of the optic vesicles to express growth hormone affects the differentiation of other cells of the eye. The choroid, especially lateral to the optic disc, is hypoplastic (underdeveloped). A coloboma, or hole, may form in or near the optic disc due to a failed closure of embryonic tissue. The degree of these abnormalities varies between individual dogs, and even between the same dog's eyes. CEA is inherited as an autosomal recessive trait that has a penetrance reaching 100 percent, and has been localized to canine chromosome 37.
An ectopic cilia is a special type of distichia. It is usually found in younger dogs. Commonly affected breeds include Poodles, Golden Retrievers, and Shih Tzus. The eyelash exits through the conjunctiva of the eyelid facing toward the eye, usually at the middle of the upper eyelid. It can cause intense pain and corneal ulcers. Treatment is surgery or cryotherapy.
Keratoconjunctivitis sicca is relatively common within the United States, especially so in older patients. Specifically, the persons most likely to be affected by dry eyes are those aged 40 or older. 10-20% of adults experience Keratoconjunctivitis sicca. Approximately 1 to 4 million adults (age 65-84) in the USA are effected.
While persons with autoimmune diseases have a high likelihood of having dry eyes, most persons with dry eyes do not have an autoimmune disease. Instances of Sjögren syndrome and keratoconjunctivitis sicca associated with it are present much more commonly in women, with a ratio of 9:1. In addition, milder forms of keratoconjunctivitis sicca also are more common in women. This is partly because hormonal changes, such as those that occur in pregnancy, menstruation, and menopause, can decrease tear production.
In areas of the world where malnutrition is common, vitamin A deficiency is a common cause. This is rare in the United States.
Racial predilections do not exist for this disease.
Entropion is a medical condition in which the eyelid (usually the lower lid) folds inward. It is very uncomfortable, as the eyelashes continuously rub against the cornea causing irritation. Entropion is usually caused by genetic factors. This is different from when an extra fold of skin on the lower eyelid causes lashes to turn in towards the eye (epiblepharon). In epiblepharons, the eyelid margin itself is in the correct position, but the extra fold of skin causes the lashes to be misdirected. Entropion can also create secondary pain of the eye (leading to self trauma, scarring of the eyelid, or nerve damage). The upper or lower eyelid can be involved, and one or both eyes may be affected. When entropion occurs in both eyes, this is known as "bilateral entropion." Repeated cases of trachoma infection may cause scarring of the inner eyelid, which may cause entropion. In human cases, this condition is most common to people over 60 years of age.
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.
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.
Trichiasis in dogs is hair from the eyelid growing in the wrong direction and rubbing on the eye, causing irritation. It usually occurs at the lateral upper eyelid, especially in the English Cocker Spaniel. Trichiasis also refers to hair from a nasal fold rubbing on the eye. This type of trichiasis can be flattened by rubbing petroleum jelly onto it, but surgery is sometimes necessary for permanent correction.
Coloboma of optic nerve, is a rare defect of the optic nerve that causes moderate to severe visual field defects.
Coloboma of the optic nerve is a congenital anomaly of the optic disc in which there is a defect of the inferior aspect of the optic nerve. The issue stems from incomplete closure of the embryonic fissure while in utero. A varying amount of glial tissue typically fills the defect, manifests as a white mass.
Other names for dry eye include dry eye syndrome, keratoconjunctivitis sicca (KCS), dysfunctional tear syndrome, lacrimal keratoconjunctivitis, evaporative tear deficiency, aqueous tear deficiency, and LASIK-induced neurotrophic epitheliopathy (LNE).
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.
People with dermatochalasis often also have blepharitis, a condition caused by the plugging of glands in the eye that produce lubricating fluid (meibomian glands). Dermatochalasis can be severe enough that it pushes the eyelashes into the eye, causing entropion.
Weakness in the orbital septum may cause the herniation of the orbital fat pads. This is observed as the presence of bulges (fat pads) in the soft tissue of the baggy eyes.
Inverse Marcus Gunn phenomenon is a rare condition that causes the eyelid to fall upon opening of the mouth. In this case, trigeminal innervation to the pterygoid muscles of the jaw is associated with an inhibition of the branch of the oculomotor nerve to the levator palpebrae superioris, as opposed to stimulation in Marcus Gunn jaw-winking.
Vision in the affected eye is impaired, the degree of which depends on the size of the defect, and typically affects the visual field more than visual acuity. Additionally, there is an increased risk of serous retinal detachment, manifesting in 1/3 of patients. If retinal detachment does occur, it is usually not correctable and all sight is lost in the affected area of the eye, which may or may not involve the macula.
BPES is very rare: only 50-100 cases have been described. It affects slightly more males than females.