Pellucid marginal degeneration (PMD) is a degenerative

cornea The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical ...

l condition, often confused with keratoconus. It typically presents with painless vision loss affecting both eyes. Rarely, it may cause acute vision loss with severe pain due to perforation of the cornea. It is typically characterized by a clear, bilateral thinning (

ectasia Ectasia (), also called ectasis (), is dilation or distention of a tubular structure, either normal or pathophysiologic but usually the latter (except in atelectasis, where absence of ectasis is the problem). Specific conditions * Bronchiectasis ...

) in the inferior and peripheral region of the cornea, although some cases affect only one eye. The cause of the disease remains unclear. Pellucid marginal degeneration is diagnosed by

corneal topography Corneal topography, also known as photokeratoscopy or videokeratography, is a non-invasive medical imaging technique for mapping the anterior curvature of the cornea, the outer structure of the eye. Since the cornea is normally responsible for s ...

. Corneal pachymetry may be useful in confirming the diagnosis. Treatment usually consists of vision correction with eyeglasses or contact lenses. Intacs implants, corneal collagen cross-linking, and corneal transplant surgery are additional options. Surgery is reserved for individuals who do not tolerate contact lenses. The term "pellucid marginal degeneration" was first coined in 1957 by the ophthalmologist Schalaeppi. The word "pellucid" means clear, indicating that the corneas retain clarity in pellucid marginal degeneration. The condition is rare, though the exact prevalence and incidence are unknown.

Signs and Symptoms

Pain is not typically present in pellucid marginal degeneration, and aside from vision loss, no symptoms accompany the condition. However, in rare cases, PMD may present with sudden onset vision loss and excruciating eye pain, which occurs if the thinning of the cornea leads to

perforation A perforation is a small hole in a thin material or web. There is usually more than one perforation in an organized fashion, where all of the holes collectively are called a ''perforation''. The process of creating perforations is called perfor ...

. While PMD usually affects both eyes, some unilateral cases have been reported. PMD is characterized by bilateral thinning (

) in the inferior and peripheral region of the cornea. The distribution of the degeneration is crescent or arcuate shaped. The cornea just above the region of thinning is of normal thickness, and may protrude anteriorly, which creates an irregular

astigmatism Astigmatism is a type of refractive error due to rotational asymmetry in the eye's refractive power. This results in distorted or blurred vision at any distance. Other symptoms can include eyestrain, headaches, and trouble driving at n ...

. This is described as a "beer belly" appearance since the greatest protrusion occurs below the horizontal midline (unlike keratoconus). Normally, PMD does not present with vascularization of the cornea, scarring, or any deposits of lipid.

Pathophysiology

PMD is an

idiopathic An idiopathic disease is any disease with an unknown cause or mechanism of apparent spontaneous origin. From Greek ἴδιος ''idios'' "one's own" and πάθος ''pathos'' "suffering", ''idiopathy'' means approximately "a disease of its own kin ...

, non-inflammatory condition. The thinning of the corneas may approach 20% of normal thickness. There may be an increase in the number of

mucopolysaccharides Glycosaminoglycans (GAGs) or mucopolysaccharides are long, linear polysaccharides consisting of repeating disaccharide units (i.e. two-sugar units). The repeating two-sugar unit consists of a uronic sugar and an amino sugar, except in the case o ...

in the

corneal stroma The stroma of the cornea (or substantia propria) is a fibrous, tough, unyielding, perfectly transparent and the thickest layer of the cornea of the eye. It is between Bowman's membrane anteriorly, and Descemet's membrane posteriorly. At its cent ...

. The Bowman's layer of the cornea may be absent, irregular, or have ruptured areas.

Diagnosis

The center of the cornea shows normal thickness, with an intact central epithelium, but the inferior cornea exhibits a peripheral band of thinning, to about 1–2 mm. The portion of the cornea that is immediately adjacent to the limbus is spared, usually a strip of about 1–2 mm. In PMD we can see high against the rule astigmatism along with horizontal bow ties. The inferior peripheral thinning is seen between the 4 o'clock and 8 o'clock positions. PMD lacks apical corneal scarring, Rizutti's phenomenon, Munson's sign, and the central corneal thickness is usually normal. The gold standard diagnostic test for PMD is

. However, it may not be as

specific Specific may refer to: * Specificity (disambiguation) * Specific, a cure or therapy for a specific illness Law * Specific deterrence, focussed on an individual * Specific finding, intermediate verdict used by a jury in determining the fina ...

corneal pachymetry Corneal pachymetry is the process of measuring the thickness of the cornea. A pachymeter is a medical device used to measure the thickness of the eye's cornea. It is used to perform corneal pachymetry prior to refractive surgery, for Keratoconus ...

, because corneal topography only evaluates the degree and distribution of surface irregularities on the cornea, not the thickness of the cornea. Corneal topography may show a "crab claw-like" appearance, a finding that is seen in both keratoconus and in pellucid marginal degeneration. Thus, if corneal topography is used for diagnosis, it should be in conjunction with clinical findings of peripheral, inferior corneal thinning.

Treatment

Eye glasses

Most people can be treated non-surgically with eyeglasses, or contact lenses.

Contact lenses

The early stages of pellucid marginal degeneration may also be managed with soft contact lenses. Success has been shown with the use of rigid gas permeable

contact lenses Contact lenses, or simply contacts, are thin lenses placed directly on the surface of the eyes. Contact lenses are ocular prosthetic devices used by over 150 million people worldwide, and they can be worn to correct vision or for cosmeti ...

combined with over-

refraction In physics, refraction is the redirection of a wave as it passes from one medium to another. The redirection can be caused by the wave's change in speed or by a change in the medium. Refraction of light is the most commonly observed phenome ...

. People wearing contacts don't report increased problems with glare and contrast sensitivity, but it is not clear if this is due to the corneal disease, or the contact lenses themselves. New studies found that the use of

Scleral contact lens A scleral lens, also known as a scleral contact lens, is a large contact lens that rests on the sclera and creates a tear-filled vault over the cornea. Scleral lenses are designed to treat a variety of eye conditions, many of which do not respo ...

, a type of rigid gas permeable (RGP) lens, may be a good option for most people with PMD. Most of these lenses are in the range of 15.5mm to 18.0mm in diameter. Regardless of the lens size, it is thought that the larger the RGP lens will in most cases be more comfortable then standard rigid corneal lenses, and at times more comfortable than soft lenses, regardless of the fact that it is a rigid lens. The highlight to the scleral design and the correction of eye disorders such as pellucid marginal degeneration is that vision with these types of lenses is exceptional when fit correctly.

Intacs

The use of intacs implants has been tested as a treatment for PMD, with slight improvement in visual acuity noted after eleven months, and intacs have been used with keratoconus with success.

Corneal collagen cross-linking

There is evidence suggesting corneal collagen cross-linking may be beneficial for patients with pellucid marginal degeneration. Research shows some promising results by combining collagen cross linking with

photorefractive keratectomy Photorefractive keratectomy (PRK) and laser-assisted sub-epithelial keratectomy (or laser epithelial keratomileusis) (LASEK) are laser eye surgery procedures intended to correct a person's vision, reducing dependency on glasses or contact lense ...

, or with

topography Topography is the study of the forms and features of land surfaces. The topography of an area may refer to the land forms and features themselves, or a description or depiction in maps. Topography is a field of geoscience and planetary sc ...

-guided transepithelial surface

ablation Ablation ( la, ablatio – removal) is removal or destruction of something from an object by vaporization, chipping, erosive processes or by other means. Examples of ablative materials are described below, and include spacecraft material for a ...

Surgery

Corneal transplant surgery may be difficult due to the peripheral thinning of the cornea, even with large and off-center grafts. Therefore, surgery is usually reserved for people that do not tolerate contact lenses. Several different surgical approaches may be taken, and no one approach is currently established as the standard. Examples of surgical procedures used for PMD include:

wedge resection Wedge resection is a surgical procedure to remove a triangle-shaped slice of tissue. It may be used to remove a tumor A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm ...

, lamellar crescentic resection, penetrating keratoplasty, lamellar keratoplasty, epikeratoplasty and intracorneal segments. Transplantation of the entire thickness of the cornea (penetrating keratoplasty) may be performed if there is enough normal tissue present. However, if there is not enough normal tissue present, then attaching the graft is difficult. New surgical techniques are in evaluation such as Intrastromal lamellar Keratoplasties and Sclerocorneal Intrastromal Lamellar Keratoplasty (SILK), these techniques allow thickening of the inferior peripheral cornea and steepening of the vertical meridien. Due to the thinning of the cornea, people with PMD are poor candidates for procedures such as

LASIK LASIK or Lasik (''laser-assisted in situ keratomileusis''), commonly referred to as laser eye surgery or laser vision correction, is a type of refractive surgery for the correction of myopia, hyperopia, and an actual cure for astigmatism, sinc ...

and

Prognosis

Visual function declines as a result of the irregular corneal shape, resulting in

, and causing a distortion in vision. Deterioration can become severe over time.

Epidemiology

The incidence and prevalence of PMD are unknown, and no studies have yet investigated its prevalence or incidence. However, it is generally agreed that PMD is a very rare condition. Some uncertainty regarding the incidence of PMD may be attributed to its confusion with keratoconus. PMD is not linked to race or age, although most cases present early in life, between 20 and 40 years of age. While PMD is usually considered to affect men and women equally, some studies suggest that it may affect men more frequently. Several diseases have been observed in people with PMD. However, no causal relationships have been established between any of the associated diseases and the pathogenesis of PMD. Such diseases include: chronic

open angle glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye rem ...

retinitis pigmentosa Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may ...

, retinal lattice degeneration,

scleroderma Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. The disease can be either localized to the skin or involve other organs, as well. Symptoms may include areas ...

, kerato-conjunctivitis, eczema, and

hyperthyroidism Hyperthyroidism is the condition that occurs due to excessive production of thyroid hormones by the thyroid gland. Thyrotoxicosis is the condition that occurs due to excessive thyroid hormone of any cause and therefore includes hyperthyroidis ...

References

External links

{{DEFAULTSORT:Pellucid Marginal Degeneration Disorders of sclera and cornea Idiopathic diseases