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Controversies exist around eliminating this disorder from breeding Collies. Some veterinarians advocate only breeding dogs with no evidence of disease, but this would eliminate a large portion of potential breeding stock. Because of this, others recommend only breeding mildly affected dogs, but this would never completely eradicate the condition. Also, mild cases of choroidal hypoplasia may become pigmented and therefore undiagnosable by the age of three to seven months. If puppies are not checked for CEA before this happens, they may be mistaken for normal and bred as such. Checking for CEA by seven weeks of age can eliminate this possibility. Diagnosis is also difficult in dogs with coats of dilute color because lack of pigment in the choroid of these animals can be confused with choroidal hypoplasia. Also, because of the lack of choroidal pigment, mild choroidal hypoplasia is difficult to see, and therefore cases of CEA may be missed.
Until recently, the only way to know if a dog was a carrier was for it to produce an affected puppy. However, a genetic test for CEA became available at the beginning of 2005, developed by the Baker Institute for Animal Health, Cornell University, and administered through OptiGen. The test can determine whether a dog is affected, a carrier, or clear, and is therefore a useful tool in determining a particular dog's suitability for breeding.
Typically a coloboma appears oval or comet shaped with round end towards the centre. There may be a few vessels (retinal or choroidal) at the edges. The surface may have irregular depression.
ONH is diagnosed by ophthalmoscopic examination. Patients with ONH exhibit an optic nerve that appears smaller than normal and different in appearance from small optic nerves caused by other eye conditions such as optic (nerve) atrophy.
DM:DD ratio has proven to be a clinically useful measurement to help diagnose optic nerve hypoplasia. Where "DM" represents the distance from Disk to Macula, and "DD" represents Disc Diameter.
The mean disc diameter (DD) is (Vertical diameter of Disc+Horizontal diameter of Disc)divided by 2. The distance between the center of the disc and the macula is DM.
"Interpretation:" When the ratio of DM to DD is greater than 3, ONH is suspected, and when it is greater than 4, Optic Nerve Hypoplasia is definite.
Colobomas of the iris may be treated in a number of ways. A simple cosmetic solution is a specialized cosmetic contact lens with an artificial pupil aperture. Surgical repair of the iris defect is also possible. Surgeons can close the defect by stitching in some cases. More recently artificial iris prosthetic devices such as the Human Optics artificial iris have been used successfully by specialist surgeons. This device cannot be used if the natural lens is in place and is not suitable for children. Suture repair is a better option where the lens is still present.
Vision can be improved with glasses, contact lenses or even laser eye surgery but may be limited if the retina is affected or there is amblyopia.
The most common sign of CEA is the presence of an area of undeveloped choroid (appearing as a pale spot) lateral to the optic disc. The choroid is a collection of blood vessels supplying the retina. CEA can also cause retinal or scleral coloboma, coloboma of the optic disc, retinal detachment, or intraocular hemorrhage. It can be diagnosed by fundoscopy by the age of six or seven weeks. Severe cases may be blind.
The visual prognosis in optic nerve hypoplasia is quite variable. Occasionally, optic nerve hypoplasia may be compatible with near-normal vision; in other cases, one or both eyes may be functionally, or legally blind. Although most patients with only optic nerve involvement lead normally productive lives, those with accompanying endocrine dysfunction or other midline cerebral abnormalities are more at risk for on-going intellectual and other disabilities.
Floaters are often readily observed by an ophthalmologist or an optometrist with the use of an ophthalmoscope or slit lamp. However, if the floater is near the retina, it may not be visible to the observer even if it appears large to the patient.
Increasing background illumination or using a pinhole to effectively decrease pupil diameter may allow a person to obtain a better view of his or her own floaters. The head may be tilted in such a way that one of the floaters drifts towards the central axis of the eye. In the sharpened image the fibrous elements are more conspicuous.
The presence of retinal tears with new onset of floaters was surprisingly high (14%; 95% confidence interval, 12–16%) as reported in a meta-analysis published as part of the Rational Clinical Examination Series in the Journal of the American Medical Association. Patients with new onset flashes and/or floaters, especially when associated with visual loss or restriction in the visual field, should seek more urgent ophthalmologic evaluation.
In segmental heterochromia, sometimes referred to as sectoral heterochromia, areas of the same iris contains two completely different colors.
Segmental heterochromia is rare in humans; it is estimated that only about 1% of the population have it.
Congenital heterochromia is usually inherited as an autosomal dominant trait.
The first noticeable signs of the syndrome usually do not appear until after the first twelve months of the child’s life. The child usually has severe balance issues as he or she learns to sit or walk, often leaning or tilting the head toward the good eye to correct the brain’s skewed perception of the world. Often the child will fall in the same direction while walking or run into objects that are placed on his or her blind side. Additionally, family members may notice a white reflex in the pupil of an affected child instead of the normal red reflex when taking photographs. The presence of this phenomenon is dependent on the degree of the coloboma, with larger colobomas more likely to manifest this particular phenomenon.
This anomaly must be confirmed through pupillary dilation and examination of the optic disc, as the symptoms alone do not constitute a diagnosis.
People with optic nerve colobomas live relatively normal lives. Although non-prescription glasses should be worn for eye protection, this syndrome does not usually prevent the individual from living a normal life, driving cars, playing sports, reading, etc. Certain activities, however, may be more difficult for patients with optic nerve colobomas due to a compromised view of the world. Like most other eye conditions, a diagnosis of optic nerve coloboma precludes a person from certain occupations.
Corneal perforation can be diagnosed by using the Seidel test. Any aqueous leakage is revealed during the Seidel test confirms corneal perforation. A fluorescence strip is wiped over the wound. If the clear aqueous humor from the eye runs through the yellow stain, the patient tests positive for corneal perforation.
With posterior lens luxation, the lens falls back into the vitreous humour and lies on the floor of the eye. This type causes fewer problems than anterior lens luxation, although glaucoma or ocular inflammation may occur. Surgery is used to treat dogs with significant symptoms. Removal of the lens before it moves to the anterior chamber may prevent secondary glaucoma.
Diagnosis of convergence insufficiency is made by an eye care professional skilled in binocular vision dysfunctions to rule out any organic disease. Convergence insufficiency characterized by one or more of the following diagnostic findings: Patient symptoms, High exophoria at near, reduced accommodative convergence/accommodation ratio, receded near point of convergence, low fusional vergence ranges and/or facility. Some patients with convergence insufficiency have concurrent accommodative insufficiency—accommodative amplitudes should therefore also be measured in symptomatic patients.
Lens subluxation is also seen in dogs and is characterized by a partial displacement of the lens. It can be recognized by trembling of the iris (iridodonesis) or lens (phacodonesis) and the presence of an aphakic crescent (an area of the pupil where the lens is absent). Other signs of lens subluxation include mild conjunctival redness, vitreous humour degeneration, prolapse of the vitreous into the anterior chamber, and an increase or decrease of anterior chamber depth. Removal of the lens before it completely luxates into the anterior chamber may prevent secondary glaucoma. A nonsurgical alternative involves the use of a miotic to constrict the pupil and prevent the lens from luxating into the anterior chamber.
Although most recognized for its correlation with the onset of glaucoma, the malformation is not limited to the eye, as Axenfeld syndrome when associated with the PITX2 genetic mutation usually presents congenital malformations of the face, teeth, and skeletal system.
The most characteristic feature affecting the eye is a distinct corneal posterior arcuate ring, known as an "embryotoxon". The iris is commonly adherent to the Schwalbe's line (posterior surface of the cornea).
Diagnosis
One of the three known genetic mutations which cause Rieger Syndrome can be identified through genetic samples analysis. About 40% of Axenfeld-Rieger sufferers have displayed mutations in genes PITX2, FOXC1, and PAX6. The difference between Type 1, 2, and 3 Axenfeld Syndrome is the genetic cause, all three types display the same symptoms and abnormalities.
The OMIM classification is as follows:
Detection of any of these mutations can give patients a clear diagnosis and prenatal procedures such as preimplantation genetic diagnosis, Chorionic villus sampling and Amniocentesis can be offered to patients and prospective parents.
While surgeries do exist to correct for severe cases of floaters, there are currently no medications (including eye drops) that can correct for this vitreous deterioration. Floaters are often caused by the normal aging process and will usually disappear as the brain learns to ignore them. Looking up/down and left/right will cause the floaters to leave the direct field of vision as the vitreous humour swirls around due to the sudden movement. If floaters significantly increase in numbers and/or severely affect vision, then one of the below surgeries may be necessary.
Currently, insufficient evidence is available to compare the safety and efficacy of surgical vitrectomy with laser vitreolysis for the treatment of floaters. A 2017 Cochrane Review did not find any relevant studies that compared the two treatments.
Aggressive marketing campaigns are currently promoting the use of laser vitreolysis for the treatment of floaters. No strong evidence currently exists for the treatment of floaters with laser vitreolysis. Currently, the strongest available evidence comparing these two treatment modalities are retrospective case series.
Sclerocornea is a congenital anomaly of the eye in which the cornea blends with sclera, having no clear-cut boundary. The extent of the resulting opacity varies from peripheral to total ("sclerocornea totalis"). The severe form is thought to be inherited in an autosomal recessive manner, but there may be another, milder form that is expressed in a dominant fashion. In some cases the patients also have abnormalities beyond the eye (systemic), such as limb deformities and craniofacial and genitourinary defects.
According to one tissue analysis performed after corneal transplantation, the sulfation pattern of keratan sulfate proteoglycans in the affected area is typical for corneal rather than scleral tissue.
Sclerocornea may be concurrent with cornea plana.
The treatment of corneal perforation depends on the location, severity and the cause of damage
- Tissue adhesive can be used to seal small perforation, but this method cannot be used to treat perforations larger than 1 mm.
- Non infected corneal perforation generally heals when a pressure bandage is used.
- For certain types of corneal perforations, lamellar keratoplasty is used as treatment.
Treatment of lagopthalmos can include both supportive care methods as well as surgical. If unable to receive surgery, artificial tears should be administered at least four times a day to the cornea to preserve the tear film. Leading up to a surgery, a patient can undergo a tarsorrhaphy which partially sews the eye shut temporarily to further protect the cornea as the patient waits for care. Multiple surgical treatments exist for Lagopthalmos but the most prevalent method includes weighing the upper eyelid down by surgically inserting a gold plate. Due to possible complications in conjunction with both the upper and lower eyelid, it might also be required to undergo a second surgery to tighten and elevate the lower eyelid to ensure both the upper and lower eyelids can fully close and protect the cornea.
Lenticonus (/len·ti·co·nus/ (len″tĭ-ko´nus)) [lens + L. conus, cone] is a rare congenital anomaly of the eye characterized by a conical protrusion on the crystalline lens capsule and the underlying cortex. It can reach a diameter of 2 to 7 mm. The conus may occur anteriorly or posteriorly. If the bulging is spherical, instead of conical, the condition is referred to as "lentiglobus". It produces a decrease in visual acuity and irregular refraction that cannot be corrected by either spectacle or contact lenses.
Biomicroscopically "lenticonus" is characterized by a transparent, localized, sharply demarcated conical projection of the lens capsule and cortex, usually axial in localization. In an early stage, retro-illumination shows an «oil droplet» configuration. Using a narrow slit, the image of a conus is observed. In a more advanced stage associated subcapsular and cortical opacities appear. Retinoscopically the oil droplet produces a pathognomonic scissors movement of the light reflex. This phenomenon is due to the different refraction in the central and the peripheral area of the lens. Ultrasonography also can illustrate the existence of a "lenticonus". A-scan ultrasonography may reveal an increased lens thickness and B- scanultrasonography may show herniated lenticular material, suggestive of a lenticonus. Amblyopia, cataract, strabismus and loss of central fixation may be observed in association with lenticonus posterior. Cataract, flecked retinopathy, posterior polymorphous dystrophy and corneal arcus juvenilis may be encountered in association with lenticonus anterior that occurs as a part of the Alport syndrome.
Exist two distinct types of "lenticonus" based on the face of the lens affected.
Persistent hyperplastic primary vitreous (PHPV), also known as Persistent Fetal Vasculature (PFV), is a rare congenital developmental anomaly of the eye that results
following failure of the embryological, primary vitreous and hyaloid vasculature to regress. It can be present in three forms: purely anterior (persistent tunica vasculosa lentis and persistent posterior fetal fibrovascular sheath of the lens), purely posterior (falciform retinal septum and ablatio falcicormis congenita) and a combination of both. Most examples of PHPV are unilateral and non-hereditary. When bilateral, PHPV may follow an autosomal recessive or autosomal dominant inheritance pattern.
Aphakia is the absence of the lens of the eye, due to surgical removal, a perforating wound or ulcer, or congenital anomaly. It causes a loss of accommodation, far sightedness (hyperopia), and a deep anterior chamber. Complications include detachment of the vitreous or retina, and glaucoma.
Babies are rarely born with aphakia. Occurrence most often results from surgery to remove congenital cataract (clouding of the eye's lens, which can block light from entering the eye and focusing clearly). Congenital cataracts usually develop as a result of infection of the fetus or genetic reasons. It is often difficult to identify the exact cause of these cataracts, especially if only one eye is affected.
People with aphakia have relatively small pupils and their pupils dilate to a lesser degree.
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.
Convergence insufficiency may be treated with convergence exercises prescribed by an eyecare specialist trained in orthoptics or binocular vision anomalies. Some cases of convergence insufficiency are successfully managed by prescription of eyeglasses, sometimes with therapeutic prisms.
Pencil push-ups therapy is performed at home. Patient brings a pencil slowly to within 2–3 cm of the eye just above the nose about 15 minutes per day 5 times per week. Patients should record the closest distance that they could maintain fusion (keep the pencil from going double as long as possible) after each 5 minutes of therapy. Computer software may be used at home or in an orthoptists/vision therapists office to treat convergence insufficiency. A weekly 60-minute in-office therapy visit may be prescribed. This is generally accompanied with additional in home therapy.
In 2005, the Convergence Insufficiency Treatment Trial (CITT) published two randomized clinical studies. The first, published in Archives of Ophthalmology demonstrated that computer exercises when combined with office based vision therapy/orthoptics were more effective than "pencil pushups" or computer exercises alone for convergency insufficiency in 9- to 18-year-old children. The second found similar results for adults 19 to 30 years of age. In a bibliographic review of 2010, the CITT confirmed their view that office-based accommodative/vergence therapy is the most effective treatment of convergence insufficiency, and that substituting it in entirety or in part with other eye training approaches such as home-based therapy may offer advantages in cost but not in outcome. A later study of 2012 confirmed that orthoptic exercises led to longstanding improvements of the asthenopic symptoms of convergence sufficiency both in adults and in children. A 2011 Cochrane Review reaffirmed that office-based therapy is more effective than home-based therapy, though the evidence of effectiveness is a lot stronger for children than for the adult population.
Both positive fusional vergence (PFV) and negative fusional vergence (NFV) can be trained, and vergence training should normally include both.
Surgical correction options are also available, but the decision to proceed with surgery should be made with caution as convergence insufficiency generally does not improve with surgery. Bilateral medial rectus resection is the preferred type of surgery. However, the patient should be warned about the possibility of uncrossed diplopia at distance fixation after surgery. This typically resolves within 1–3 months postoperatively. The exophoria at near often recurs after several years, although most patients remain asymptomatic.
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.