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Cone dystrophy

A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible from both central and color vision. more...

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The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk and have progressive difficulty with daytime vision. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to counting fingers vision. Color vision testing using color test plates (HRR series) reveals many errors on both red-green and blue-yellow plates.

The pathogenesis of cone dystrophy has yet to be elucidated. It appears that the dystrophy is primary, since subjective and objective abnormalities of cone function are found before ophthalmoscopic changes can be seen. However, the retinal pigment epithelium (RPE) rapidly becomes involved, leading to a retinal dystrophy primarily involving the macula. The histological examination of the eyes of one such patient showed that the outer nuclear layer of cones and rods had disappeared completely, whereas the RPE showed pronounced pigment changes. There was also atrophy of the temporal disc.

The fundus exam via ophthalmoscope is essentially normal early on in cone dystrophy, and definite macular changes usually occur well after visual loss. Fluorescein angiography (FA) is a useful adjunct in the workup of someone suspected to have cone dystrophy, as it may detect early changes in the retina that are too subtle to be seen by ophthalmoscope. For example, FA may reveal areas of hyperfluorescence, indicating that the RPE has lost some of its integrity, allowing the underlying fluorescence from the choroid to be more visible. These early changes are usually not detected during the ophthalmoscopic exam.

The most common type of macular lesion seen during ophthalmoscopic examination has a bull’s-eye appearance and consists of a doughnut-like zone of atrophic pigment epithelium surrounding a central darker area. In another, less frequent form of cone dystrophy there is rather diffuse atrophy of the posterior pole with spotty pigment clumping in the macular area. Rarely, atrophy of the choriocapillaris and larger choroidal vessels is seen in patients at an early stage. The inclusion of fluorescein angiography in the workup of these patients is important since it can help detect many of these characteristic ophthalmoscopic features. In addition to the retinal findings, temporal pallor of the optic disc is commonly observed.

As expected, visual field testing in cone dystrophy usually reveals a central scotoma. In cases with the typical bull’s-eye appearance, there is often relative central sparing.

Because of the wide spectrum of fundus changes and the difficulty in making the diagnosis in the early stages, electroretinography (ERG) remains the best test for making the diagnosis. Abnormal cone function on the ERG is indicated by a reduced single-flash and flicker response when the test is carried out in a well-lit room (photopic ERG). The relative sparing of rod function in cone dystrophy is evidenced by a normal scotopic ERG, i.e. when the test is carried out in the dark. In more severe or longer standing cases, the dystrophy involves a greater proportion of rods with resultant subnormal scotopic records. Since cone dystrophy is hereditary and can be asymptomatic early on in the disease process, ERG is an invaluable tool in the early diagnosis of patients with positive family histories.

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Making a difference with prosthetics
From Optometric Management, 12/1/98 by McMahon, Timothy T

An expert offers tips for working with these lenses and achieving dramatic results.

The woman in her late 30s was one of my early prosthetic contact lens patients, but I remember her vividly.

Her cornea was lacerated in a childhood injury. The result was an opacified cornea and extreme light sensitivity. For both reasons, she always wore dark sunglasses, no matter how high or low the level of lighting was in a room.

She came into my office wearing dark, subdued clothing. When she sat down in the reception area, she turned her head toward the wall. I noticed that she spent a good deal of effort trying not to draw any attention to herself.

When we fit her with a prosthetic contact lens to mask the abnormality, her personality turned around completely. We hardly recognized her during follow-up visits. She waltzed into the office wearing bright clothes and a big smile and enjoyed being the center of attention. But when she was without her lens during exams, she'd become introverted again.

This case demonstrates how important prosthetic lenses can become to a patient's self worth. It's just one of the hundreds of prosthetic contact lens cases I've had since 1981.

As the Director of the Contact Lens Service at the Illinois Eye and Ear Infirmary in Chicago, which is a regional eye trauma center, I see a fair amount of eye trauma. In fact, thousands of patients with disfigured eyes or severe optical problems are referred to the Eye and Ear Infirmary each year, and prosthetic contact lenses are very helpful to some of them.

Here, I'll review some of the indications for prosthetic lenses and give you some tips for working with them.

Growing list of indications

The list of indications for prosthetic contact lenses keeps growing. The lenses are now made for sighted and nonsighted eyes, with or without lens power.

Indications for use in nonsighted eyes include:

> Abnormalities of the globe (e.g. buphthalmos)

> Abnormalities of the cornea (e.g. corneal leukomas)

> Abnormalities of the iris (e.g. colobomas)

> Abnormalities of the lens (e.g. cataracts)

> Vitreoretinal abnormalities (e.g. extreme photophobia)

Indications for use in sighted eyes include:

> Corneal scars and other corneal abnormalities (e.g. bullous keratopathy, chronic uveitis with band keratopathy, keratorefractive surgery)

> Abnormalities of the iris (e.g. heterochromia, aniridia, colobomas, iridectomy, polycoria)

> Lens abnormalities (e.g. aphakia and pseudophakia with photophobia, subluxated lens) > Vitreoretinal abnormalities (e.g. vitreous abnormalities, maculopathies with photophobia)

> Extraocular muscle disorders (e.g. diplopia)

> Amblyopia

> Inherited disorders (e.g. cone dystrophy, albinism)

> Deuteranopia (e.g. red-green lenses).

Building a reputation

Fitting these lenses is as straightforward as fitting any soft contact lens. The only fitting requirement is to ensure that the lens is stable on the eye, or it will look as if the eye is rocking up and down. Here are some additional tips for success.

* Start with easy cases. Your likelihood for success is highest with patients who have an opaque pupil and those with brown irides.

* Offer your expertise. Let other eye care, primary care and emergency care physicians know that you've fit patients successfully. You'll find that when you offer your expertise, referrals will come naturally. Once you begin to receive referrals from other practitioners, you'll further build your reputation in the clinical community by corresponding with referring physicians and offering information about recent advancements with prosthetic lenses.

The art of design

While fitting prosthetic contact lenses isn't any more clinically demanding than most other contact lenses, what's more difficult is working to achieve a cosmetic match in eye color. Here are some tips:

* Go darker. When selecting the darkness of the hue, go one step darker than you think you probably should.

* Go larger When determining pupil size, err on the size of larger. A small pupil will stand out more than a larger pupil.

* Pay attention to the limbal ring. This is particularly true in a pale iris because otherwise the lens will look fake.

* Note the texture. For lighter eyes particularly, be sure to add texture to the design of the lens. The browner the eye, the more homogeneous the texture.

* Build your own. You can effectively build your own lens by adding layer upon layer of trial lenses. I fit from my stock lenses and then interpolate the lenses to get the right color.

The Wesley Jessen Special Eyes Foundation also has a menu option available of high-quality photo images. You can select the right color from different hues of gray, blue, green or brown, a pattern and a limbal ring pattern or size.

Key to success

For many patients, a prosthetic contact lens is the most attractive option available to them. It's far less invasive than the surgery required for enucleation and a prosthetic eye fitting, and it's much more appealing than just wearing dark sunglasses.

To achieve success, you need to make the injured, damaged or affected eye look as good as possible. Just don't promise that the eye will look exactly like the other one.

It's appropriate to explain to the patient that a prosthetic lens is a fairly simplistic way to cover the eye. Having said that, however, you should also tell them that it works, and that it can change their lives. OM

A Brief History

The history of prosthetic contact lenses doesn't quite span two decades. In 1981, there were no prosthetic contact lenses approved by the FDA, which has jurisdiction over lenses fitted for sighted eyes.

When Wesley Jessen introduced its cosmetic opaque lenses for changing eye color in the late 1980s, I asked the company to adapt its DuraSoft Colors lens technology to produce a black pupil on a clear lens. Then Wesley Jessen's Prosthetic Lens Department started working on lenses for people with normal corneas and opaque lenses. Last year, Wesley Jessen acquired The Narcissus Eye Research Foundation, a nonprofit organization that provides prosthetic contact lenses for donations. The organization was founded in 1974 by Leroy G. Meshel, M.D., a Daly City, Calif., ophthalmologist.

Wesley Jessen renamed the organization The Wesley Jessen Special Eyes Foundation. Dr. Meshel now serves as medical director, and I sit on its board of directors.

Dr. McMahon is an Associate Professor and the Director of the Contact Lens Service at the University of Illinois at Chicago, School of Medicine, Illinois Eye and Ear Infirmary.

Copyright Boucher Communications, Inc. Dec 1998
Provided by ProQuest Information and Learning Company. All rights Reserved

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