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.

The United States Preventive Services Task Force as of 2013 states there is insufficient evidence to recommend for or against screening for glaucoma. Therefore, there is no national screening program in the US. Screening, however, is recommended starting at age 40 by the American Academy of Ophthalmology.

There is a glaucoma screening program in the UK. Those at risk are advised to have a dilated eye examination at least once a year.

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.

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.

Screening for glaucoma is usually performed as part of a standard eye examination performed by optometrists and ophthalmologists. Testing for glaucoma should include measurements of the intraocular pressure via tonometry, anterior chamber angle examination or gonioscopy, and examination of the optic nerve to look for any visible damage to it, or change in the cup-to-disc ratio and also rim appearance and vascular change. A formal visual field test should be performed. The retinal nerve fiber layer can be assessed with imaging techniques such as optical coherence tomography, scanning laser polarimetry, and/or scanning laser ophthalmoscopy (Heidelberg retinal tomogram).

Owing to the sensitivity of all methods of tonometry to corneal thickness, methods such as Goldmann tonometry should be augmented with pachymetry to measure the central corneal thickness (CCT). A thicker-than-average cornea can result in a pressure reading higher than the 'true' pressure whereas a thinner-than-average cornea can produce a pressure reading lower than the 'true' pressure.

Because pressure measurement error can be caused by more than just CCT (i.e., corneal hydration, elastic properties, etc.), it is impossible to 'adjust' pressure measurements based only on CCT measurements. The frequency doubling illusion can also be used to detect glaucoma with the use of a frequency doubling technology perimeter.

Examination for glaucoma also could be assessed with more attention given to sex, race, history of drug use, refraction, inheritance and family history.

Glaucoma has been classified into specific types:

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.

Quantitative comparisons between different eyes and conditions are usually made using RMS (root mean square). To measure RMS for each type of aberration involves squaring the difference between the aberration and mean value and averaging it across the pupil area. Different kinds of aberrations may have equal RMS across the pupil but have different effects on vision, therefore, RMS error is unrelated to visual performance. The majority of eyes have total RMS values less than 0.3 µm.

The most common method of classifying the shapes of aberration maps is to consider each map as the sum of fundamental shapes or basis functions. One popular set of basis functions are the Zernike polynomials. Each aberration may be positive or negative in value and induces predictable alterations in the image quality.

Because there is no limit to the number of terms that may be used by Zernike polynomials, vision scientists use the first 15 polynomials, based on the fact that they are enough to obtain a highly accurate description of the most common aberrations found in human eye. Among these the most important Zernike coefficients affecting visual quality are coma, spherical aberration, and trefoil.

Zernike polynomials are usually expressed in terms of polar coordinates (ρ,θ), where ρ is radial coordinate and θ is the angle. The advantage of expressing the aberrations in terms of these polynomials includes the fact that the polynomials are independent of one another. For each polynomial the mean value of the aberration across the pupil is zero and the value of the coefficient gives the RMS error for that particular aberration (i.e. the coefficients show the relative contribution of each Zernike mode to the total wavefront error in the eye). However these polynomials have the disadvantage that their coefficients are only valid for the particular pupil diameter they are determined for.

In each Zernike polynomial formula_1, the subscript n is the order of aberration, all the Zernike polynomials in which n=3 are called third-order aberrations and all the polynomials with n=4, fourth order aberrations and so on. formula_2 and formula_3 are usually called secondary Astigmatism and should not cause confusion. The superscript m is called the angular frequency and denotes the number of times the Wavefront pattern repeats itself.

List of Zernike modes and their common names:

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.

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.

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.

Many techniques for measuring the eye’s aberrations have been described, The most common technique is Shack-Hartmann aberrometry. Other methods include Tscherning systems, ray tracing and Skiascopy methods.

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.

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.

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.

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.

Careful eye examination by an ophthalmologist or optometrist is critical for diagnosing symptomatic VMA. Imaging technologies such as optical coherence tomography (OCT) have significantly improved the accuracy of diagnosing symptomatic VMA.

A new FDA approved drug was released on the market late 2013. Jetrea (Brand name) or Ocriplasmin (Generic name) is the first drug of its kind used to treat vitreomacular adhension.

Mechanism of Action: Ocriplasmin is a truncated human plasmin with proteolytic activity against protein components of the vitreous body and vitreretinal interface. It dissolves the protein matrix responsible for the vitreomacular adhesion.

Adverse drug reactions: Decreased vision, potential for lens sublaxation, dyschromatopsia (yellow vision), eye pain, floaters, blurred vision.

New Drug comparison Rating gave Jetea a 5 indicating an important advance.

Previously, no recommended treatment was available for the patient with mild symptomatic VMA. In symptomatic VMA patients with more significant vision loss, the standard of care is pars plana vitrectomy (PPV), which involves surgically removing the vitreous from the eye, thereby surgically releasing the symptomatic VMA. In other words, vitrectomy induces PVD to release the traction/adhesion on the retina. An estimated 850,000 vitrectomy procedures are performed globally on an annual basis with 250,000 in the United States alone.

A standard PPV procedure can lead to serious complications including small-gauge PPV. Complications can include retinal detachment, retinal tears, endophthalmitis, and postoperative cataract formation. Additionally, PPV may result in incomplete separation, and it may potentially leave a nidus for vasoactive and vasoproliferative substances, or it may induce development of fibrovascular membranes. As with any invasive surgical procedure, PPV introduces trauma to the vitreous and surrounding tissue.

There are data showing that nonsurgical induction of PVD using ocriplasmin (a recombinant protease with activity against fibronectin and laminin) can offer the benefits of successful PVD while eliminating the risks associated with a surgical procedure, i.e. vitrectomy. Pharmacologic vitreolysis is an improvement over invasive surgery as it induces complete separation, creates a more physiologic state of the vitreomacular interface, prevents the development of fibrovascular membranes, is less traumatic to the vitreous, and is potentially prophylactic. As of 2012, ThromboGenics is still developing the ocriplasmin biological agent. Ocriplasmin is approved recently under the name Jetrea for use in the United States by the FDA.view.

An experimental test of injections of perfluoropropane (CF) on 15 symptomatic eyes of 14 patients showed that vitreomacular traction resolved in 6 eyes within 1 month and resolved in 3 more eyes within 6 months.

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.

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.

Persistent tunica vasculosa lentis is a congenital ocular anomaly. It is a form of persistent hyperplastic primary vitreous (PHPV).

It is a developmental disorder of the vitreous. It is usually unilateral and first noticed in the neonatal period. It may be associated with micropthalmos, cataracts, and increased intraocular pressure. Elongated ciliary processes are visible through the dilated pupil. A USG B-scan confirms diagnosis in the presence of a cataract.

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.

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.

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.

The primary vitreous used in formation of the eye during fetal development remains in the eye upon birth and is hazy and scarred. The symptoms are leukocoria, strabismus, nystagmus and blurred vision, blindness.