Corneal Dysgenesis, Degenerations, And Dystrophies

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Dysgenesis

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Congenital anomalies. A developmental disorder that results in a congenital malformation of the cornea... and anterior chamber.

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Degeneration

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A disease process in which chemical elements of corneal tissue are converted into some abnormal substance, representing a change in the corneal tissue toa less functional active form.

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Primary or Involutional Degeneration

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Degeneration with no definite underlying cause, tendency to develop near the periphery, in advanced age, without early loss of vision.

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Secondary Degeneration

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Degeneration or keratopathy of known cause, such as general metabolic disturbance, previous injury or inflammation.

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Dystrophy

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Developmental and frequently hereditary change occurring in original corneal tissue because of faulty nutrition. Starts in center of relatively young persons, with early and progressive visual impairment, non-inflammatory, and bilateral.

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Cryptophthalmos

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Absence of cornea.

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Cornea Plana

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Flat cornea, hyperope. Usually seen in association with sclerocornea or microcornea. Diffuse opacities of stroma, shallow anterior chamber, congenital cataracts, iris coloboma, ectopia lentis, retinal and macular aplasia, blue sclera and glaucoma. Inherited.

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Microcornea

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Diameter < 10mm. Eye may be otherwise normal or be microphthalmos (entire small eye). Associated ocular abnormalities: cornea plana, glaucoma, coloboma, leukoma, congenital cataract, corectopia, microphakia. Systemic association: rubella syndrome and Ehlers-Danlos syndrome.

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Megalocornea

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Diameter > 13mm, clear cornea. Usually bilateral, sex linked (90%), non-progressive, and requires no treatment except for refractive errors (high myopia and astigmatism). DDx: corneal enlargement due to congenital glaucoma.

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Congenital Glaucoma

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May occur at birth, may develop in early newborn period, or they may develop by first few years of life. Ocular signs are diffuse corneal edema, increased IOP, glaucomatous cupping, increased corneal diameter, rupture of Descemet's membrane and buphthalmos. Ocular symptoms are photophobia, tearing and blepharospasms. DDx: foceps injury, corneal endothelial dystrophy, interstitial keratitis and congenital rubella syndrome.

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Anterior Chamber Cleavage Syndrome

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A spectrum of congenital malformations involving the iris, iridocorneal or filtration angle, and the cornea.

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Posterior Embryotoxon

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Thickened, curved, centrally displaced anterior border ring of Schwalbe. A white, collagenous irregular ridge about .5-2mm central to the limbus, occurring in about 15% of normal eyes. See temporally more often than nasally. May form a complete ring studded with pigment clumps.

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Axenfeld's Anomaly and Syndrome

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Iris strands extend across the angle to insert into a prominent Schwalbe's ring. About 50% of patients will develop juvenile glaucoma (Axenfeld's Syndrome). Associated systemic findings: hypertelorism, congenital glaucoma, Marfan's syndrome, Lowe's Syndrome, Pierre Robin Syndrome, Hallerman-Strieff Syndrome.

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Reiger's Anomaly and Syndrome

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An autosomal dominant disorder, in which one will see a prominant Schwalbe's ring, iris strand attachments, hypoplasia of iris and correctopia. Associated ocular defects: glaucoma (60% of pts 5-30 years old), corectopia, pseudopolycoria, haline corneal opacities in Descemet's membrane. Associated systemic findings: dental, skull facial, skeletal anomalies, chromosomal anomalies and Down's Syndrome. Rieger's Syndrome: Rieger's anomaly plus the skeletal anomalies.

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Circumscribed Posterior Keratoconus

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A localized crater defect on posterior corneal surface with a concavity facing toward the anterior chamber. A rare disorder exhibiting a non-inflammatory thinning of the cornea. Variable stromal haze usually centrally and unilateral with a normal anterior surface. Unrelated to usual form of keratoconus and visual acuity not usually affected. Associated ocular abnormalities: anterior lenticonus, aniridia, Fleischer's ring, cleavage anomalies and glaucoma. Systemic associations: hypertelorism, broad flat bridge, brachydactyly, bull neck, mental retardation, stunted growth.

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Peter's Anomaly

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May show a posterior corneal defect and leukoma as the only sign or may be seen with iris adhesions to the leukoma and also lens apposition to the leukoma. Anteriorly displaced lens results in a shallow anterior chamber along with the peripheral anterior synechia producing secondary glaucoma. Associated ocular defects: glaucoma and microphthalmia. Systemic associations: cleft plate, congenital heart defects, skeletal anomalies, craniofacial dysplasia.

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Sclerocornea

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A congenital anomaly characterized by a non-progressive, non-inflammatory usually bilateral opacities of the peripheral, central or entire cornea with deep or superficial vascularization. Tissue destined to become stroma becomes sclera instead and maybe circumferential (peripheral sclerocornea) or involve the entire cornea. Associated ocular abnormalities: cornea plana, various cleavage anomalies, aniridia, microphthalmos, nystagmus, strabismus, decreased corneal sensation, cataracts, glaucoma and endophalmos. Associated systemic findings: chromosomal abnormalities, mental retardation, deafness, craniofacial, digital and skin abnormalities.

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Dermoids

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Lesions are charistomas, which are masses of tissue that have been dislocated from their normal position. Limbal dermoids: overlapping the cornea and sclera. Often seen in birth or slightly after birth and may increase in size as the child grows. Tumor contains keratinized epithelium, fibrous tissue, fat, BVs, nerves, glands, cartilage, teeth. Decreased vision if large enough or if induces an astigmatic error. Surgical removal.

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Spheriod

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Non-hereditary corneal disease related to geographic or climatic conditions. Spherical, golden-brown, oily droplets under epithelium or conj at 3 and 9 o'clock, may also be noted central, superficial stroma. Primary (age/hereditary), Secondary (chronic ocular disease or climatic insult).

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Coat's White Ring

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Corneal opacity is usually located where there was a foreign body, deposit contains iron, asymptomatic and no treatment. Small, granular, white, oval ring.

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Salzmann's Degeneration

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Non-inflammatory condition related to previous inflammation, especially viral, old phlyctenular, trachomatous and leutic cornea. Bluish, white superficial nodules usually arranged in a circular fashion around pupil area, no vascularization.

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Band Keratopathy

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Calcium which may occur from localized ocular inflammatory disease or from systemic disease causing hypercalcemia, also in phtisis bulbi. Deposits located in a band shape in the intrapalpebral fissure area of the Bowman's membrane with a lucid interval, "swiss cheese" appearance represent areas where small nerves penetrate Bowman's membrane.

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Lipid Degeneration

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Occurs as a primary or secondary problem as a result of local or systemic disease, trauma and after severe corneal disease. Dense yellow-white opacity in the affected area of the cornea.

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Terrien's Marginal Degeneration

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Unknown etiology, slowly progressive, uncommon marginal thinning of corneal stroma margin, advancing edge exhibits lipid deposition, corneal perforation possible, may look like early arcus, causes significant astigmatism.

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Mooren's Ulcer

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Marginal ulcer which is sever, painful, and central, circumferentially progressing, ambiguity in diagnosis, possibly an immune component. Inflammation and perforation may occur. Benign-older patients, unilateral, better response to tx, younger pts, bilateral, poor response to tx.

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Pinguecula

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Elastatic degeneration of collagen due to the combined effects of age and exposure to sunlight, also to dust and wind. A triangular grey white to yellowish, slightly elevated nodule of degenerated conjunctiva near limbus in horizontal meridian, nasal > temporal. Pingueculitis (no symptoms) vs. episcleritis (pain).

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Pterygia

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Triangular, fibrovascular, connective tissue overgrowths of bulbar conj. onto cornea, distribution of UV energy. Horizontally located in palpebral fissure, usually nasal side, a pigment line, (ie Stocker's line) maybe be seen in advance of a pterygium, indications for activity are epi staining, opacifications of Bowman's membrance, fleshiness and thickness of BVs. Surgical with mask recurrence, surgical excision with B radiation less recurrence, wearing of eyeglasses to reduce UV energy, conservative attitude toward sx.

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Furrow Degeneration, Idiopathic

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Thinning of the cornea in older people in the area of an arcus senilus, no tendency to perforate and no vascularization.

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Senile

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Flattening of vertical meridian, thinning of periphery, lack of luster.

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White limbal Girdle of Vogt

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A degeneration found quite frequently in pts over 45. White, irregular, chalky opacity in temporal and medial limbal areas of Bowman's, no vascularization, vision not affected, arc shape, may or may not be a clear interval.

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Anterior Crocodile Shagreen

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Unknown, bilateral, polygonal, grayish-white opacities separated by clear tissue in the deep areas of the epi and Bowman's, usually located axially, vision usually not affected. Anterior corneal mosaic pattern.

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Posterior Crocodile Shagreen

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Bilateral grayish-white opacities in deep stroma and Descemet's which appear as small polygonal patches of various sizes separated by dark regions.

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Cornea Farinata

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May be transmitted as an autosomal dominant trait or may be a manifestation of senile changes. Small grey-white, dust like dots and flecks deep in the stroma or predescemet's zone, no vascularization, axially diffuse or annular distribution, Farinata refers to "flour like" appearance of deposits.

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Arcus Senilus

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Deposition of cholesterol esters, triglycerides and phospholipids in peripheral stromal cornea, may be associated with abnormalities in blood lipids, esp. in younger persons. Complete or incomplete perilimbal yellow-white, hazy opacity; clear perilimbal zone, lipid first noted in Descemet's membrane and then Bowman's layer, deposits appear first in the inferior and then the superior and eventually encircle the entire cornea.

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Hudson Stahli Line

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Yellowish brown narrow, horizontal, single line of pigmentation seen between the lower pupil margin and inferior limbus.

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Dellen

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Thinning of cornea or sclera due to water loss from the corneal stroma or sclera. Localized thin spots that occur in areas of tear film instability and dryness.

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Vortex Keratopathy Corneal verticulata) (worrow)

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Amiodarone... Heart problems, stabilize arrhythmias, corneal pigmentation changes; effects stem cells; Palisades of Vogt... gives characteristic appearance; Fabry's disease (young patient).

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Hassel-Henle Bodies

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Focal peripheral chickening of Descemet's. Guttata = central.

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Map-Dot-Fingerprint Dystrophy

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Most common anterior dystrophy. Cogan's microcystic: map, fingerprint, dot-like dystrophy, nontraumatic recurrent erosion. Changes to BM. Rapid TBUT. Maps, dots, microcysts, fingerprints, nets and erosions, negative staining. Often asymptomatic, but painful foreign body sensation due to erosions, VA somewhat reduced if lesion clustered in pupillary zone, also irregular astigmatism (shows irregular mires). Non-hereditary disease, equal sex distribution. Possible degeneration b/c may come on later or result from trauma. Tx: hypertonic, topical lubricants and ointments, epithelial scraping, pressure patch and soft CL's.

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Meesman's Juvenile Dystrophy (Stocker-Holt)

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Autosomal dominant, bilateral and symmetrical. Small grey-white opacities in the intrapalpebral zone, regular in size and shape, bleb like lesions on retro, grey round opacities on direct. Asymptomatic until middle age, then irregular astigmatism and intermittent irritation and photophobia, vision often spared. Keratoplasty if vision impaired.

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Reis-Bucklers' Ring Shaped Dystrophy

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Rare bilateral, symmetrical autosomal dominant, central corneal opacity, appears in first few years of life, primary cause unknown. Irregular epithelium with diffuse irregular, patchy, geographic ring-like with honeycomb pattern opactities in region of Bowman's later, later central opacities appear in a reticulated pattern. Around age 5, recrrent erosions, conj injection, gradual opacification cause episodes of severe pain, photophobia and ocular redness, by age of 30, erosions become infrequent, but visual acuity quite effected, decrease corneal sensitivity. Keratoplasty, cuperficial keratectomy.

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Granular Dystrophy

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Bilateral symmetrical, autosomal dominant, hyaline opacities. Sharply demarcated, dense, milky opaque opactities which resemble bread crumbs, axial portion, all depths of stroma. Noted in first few years of life. Asymptomatic until opacities enlarge causing gradual reduction in vision. May require penetrating keratoplasty by 40 and prognosis for clear graft is excellent.

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Lattice Dystrophy

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Bilateral, autosomal dominant, amyloid opacities in central cornea. Refractile lines and white dot opacities appearing in subepithelium and stroma, later a "ground glass" appearance with pipe-stem lesions. Epithelial irregularities, irregular astigmatism, corneal erosions and pain in first decade of life, central stromal opacification and considerable decrease in vision by 4th or 5th decade. Keratoplasty.

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Macular Dystrophy

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Bilateral, autosomal recessive, mucopolysaccharide (excess of glycoaminoglycan) opacities in central cornea. Poorly demarcated, gray-white opacities throughout stroma with diffuse stromal haziness between opactities: involves the full thickness of the stroma and may extend to limbus: deep epithelium en endothelial layers are also affected. Decrease VA noted as early as 3 years of age and between ages of 10-30 years, opacification becomes quite dense, there is usually no ocular irritation or inflammation. Keratoplasty.

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Fleck Dystrophy

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Bilateral, asymmetric, autosomal dominant opacities located in all levels of stroma. Well demarcated, small round grey-white doughnut-like, wreath-like opacities extend throughout the otherwise normal corneal stroma. Vision usually not affected and opacities are usually noted during a careful slit lamp exam. No tx.

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Cornea Farinata

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Maybe a degenerative process than a dystrophic one, older individuals. Small, grey comma shaped, circular, linear, filiform, and dot-like opacities, distributed axially or annularly. No symptoms.

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Primary Pre-Descemet Dystrophy

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Primary or secondary degeneration or dystrophy. Resembles cornea farinata but has larger and more polymorphous opacities, six types of opacities (dendritic, boomerang, circular, coma, linear and filiform). VA not affected.

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Corneal Guttata

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Dew, drop-like, wart-like endothelial prominences that are focal mushroom-like excressences on Descemet's membrane, located axially, typical beaten metal appearance, specular reflection reveal dark spots and irregular (size and shape) cells. Primary guttata in 3 clinical patterns: 1. a few guttata, normal endothelial aging, middle to older age, slowly progressive. 2. larger number (accompanied by endo pigment), endo dystrophy. 3. increasing number of guttata accompanied by corneal edema, Fuch's 4. Hassal-Henle bodies. Secondary guttata: 1. associated with degenerative corneal disease, trauma or inflammation. 2. on removal of causative agent it subsides.

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Fuch's Endothelial Dystrophy

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Bilateral, autosomal dominant, central, asymmetric, female > male, age 40-60, postmenopausal. Unknown, progressive corneal disease in which corneal edema results from the primary metabolic incompetence of endo cells, endo barrier and pump fail. Three stages: 1. guttata, endo pigment, moderate greying and thickening of Descemet's. 2. stromal edema (ground glass appearance) and folds in Descemet's, epi edema (fine few-drop pattern with bullae). 3. Subepithelial irregular grey, swirling sheets of scar tissue and stromal scarring with neo. Asymptomatic with only guttata and endo pigment. Hazy vision and symptoms of glare with stromal and epi edema, attacks of severe pain with bullous keratopathy. Vision deterioration (worse in am) with stromal and subepithelial scarring but less attacks of pain, hand motion vision. Management: none. Topical hypertonic ointment at bedtime, drops during day, warm air, loosely fit, thin, high water CL's (decrease pain and IOP). Penetrating keratoplasty and IOL implant b/c

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Posterior Polymorphous Dystrophy

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Inherited as an autosomal dominant with variable expression. Bilateral but asymmetrical. Polymorphous opactities at level of Descemet's, blister-like vascular lesions surrounded by grey tissue halo scattered randomly across posterior cornea, sometimes edema. Management: VA remains normal in most patients. If severe edema, penetrating keratoplasty.

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Irido-corneal Endothelial Syndrome

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Unilateral. Iris nevus syndrome (Cogan-Reese Syndrome). Chandler's Syndrome. Common link is an abnormal endo later which covers the angle and iris...glaucoma! Iris atrophy, pigmented iris nodules. Peripheral anterior synechiae.