The FINANCIAL — Unlike other bodily tissues, the cornea isn’t laced with blood vessels for nourishment or to ward o infection. Instead, the cornea requires a perfect balance of tear coverage and fluid movement to remain healthy.
Disrupt that balance and there’s trouble. In the case of corneal diseases or disorders, the normally transparent tissue clouds with abnormal material accumulation, causing blurred or decreased vision, light sensitivity or glares, and pain.
Here are a few cases of corneal whorls, sparkles and map-dot fingerprints that could be indicative of something more.
Fabry disease
The golden-brown or gray corneal verticillata, radiating outward from the inferior cornea, aren’t unique to the rare, inherited disorder. But, when correcting for pharmacological causes-of which the cardiac anti-arrhythmic amiodarone or anti-malarial chloroquine are most common-Fabry disease should be considered, Dr. Brujic says.
A metabolic error that results from the buildup of the glycoprotein globotriaosylceramide (Gb3) in lysosomes of vascular endothelial cells, Fabry disease is a debilitating and life-threatening disorder that progressively affects major organ systems, leading to kidney failure, heart attack or stroke. Occurring in about 1 in 40,000 births, Fabry disease begins in childhood and can be overlooked for years, especially in individuals with milder forms of the disorder.
Fabry disease often manifests with other characteristic features, aside from hallmark corneal whorls, including:
Acroparesthesias, pain in the hands and feet
Angiokeratomas, small, dark-red spots on the skin
Hypohidrosis, inability to sweat
Tinnitus or hearing loss
Gastrointestinal problems
Should doctors suspect Fabry disease, a referral to a genetic specialist is recommended to confirm via DNA testing. Although there is no cure, patients may benefit from enzyme replacement therapy.
Epithelial and endothelial dystrophies
Whereas the ocular manifestations of Fabry disease might persist for years unnoticed or without any consequence to visual acuity, that isn’t the case with epithelial basement membrane dystrophy (EBMD). One of the more common corneal dystrophies, EBMD is a protrusion of the basement membrane into the epithelium, causing recurrent corneal erosion. This erosion exposes nerve endings and causes severe pain, not to mention blurred vision, light sensitivity and foreign body sensation.
Also known as map-dot-fingerprint dystrophy for the bilateral, opaque clouds, dots and lines on the epithelium, EBMD can cause astigmatism and other higher-order aberrations, says Melissa Barnett, O.D., AOA Contact Lens and Cornea Section (CLCS) member and principal optometrist at UC Davis Eye Center.
Management strategies typically include ocular lubricants, bandage contact lenses, topical hyperosmotics, epithelial debridement, autologous serum eyedrops, anterior stromal puncture, phototherapeutic keratectomy and amniotic membranes.
From the posterior cornea, Fuchs’ dystrophy is a bilateral, asymmetric condition that manifests most commonly among 50- to 60-year-old patients and presents as painful, recurrent corneal wounds with hazy vision. Essentially the deterioration of “pumper cells,” Fuchs’ dystrophy results in corneal clouding and swelling that creates painful blisters.
Initially asymptomatic, Fuchs’ can threaten vision loss and necessitate a corneal transplant. A transplant patient may be a candidate for scleral lens wear, Dr. Barnett notes.
Wilson disease
In a broad sense, Dr. Brujic argues that eye care practitioners should espouse a holistic approach to patient care-not entrenching themselves solely in eye care-given that corneal issues can be indicative of systemic disorders.
Called Kayser-Fleischer rings, the pigmentation appears as a rusty-brown ring around the edge of the iris and rim of the cornea. The National Institutes of Health notes Kayser-Fleischer rings are often indicative of nervous system damage resulting from Wilson disease, while the rings are only present in upward of 66 percent of those with liver damage alone.
