Aaron M. Brewer, O.D.
Resident Optometrist
VA Medical Center
Fayetteville AR, 72703
Abstract
62-year-old Caucasian male complains of bilateral decreased vision. Corneas present
with dense arcus and centralized lipid crystals consistent with diagnosis of Schnyder’s
Crystalline Dystrophy. Currently monitoring progression until transplant is required.
Outline
I. Case History
-Patient demographics: 62 years old, Caucasian, male
-Chief complaint:
Bilateral decreased vision
-Ocular history:
No ocular surgeries or trauma,
No personal or family history of glaucoma or diabetes,
No history of blindness in family
-Medical history:
Depression, Alcoholism, Tobacco abuse, Osteoarthritis
-Medications:
None
No ocular meds
-Other salient information: None
II. Pertinent findings
-Clinical:
VA 20/40- OD, 20/40- OS; no improvement with refraction
Bilateral dense arcus
Bilateral centralized stromal crystalline opacities
-Laboratory studies: Lipid panel – showed mildly elevated cholesterol
CBC w/ diff - normal
Uric acid –to rule out Gout etiology- normal
-Radiology studies: None required
III. Differential diagnosis
-Primary/leading:
Schnyder’s Corneal Dystrophy
-Others –
Central Cloudy Dystrophy, Granular Dystrophy, Lattice Dystrophy, ect.
IV. Diagnosis and discussion
-Elaborate on the condition:
Autosomal dominant inheritance
Variable phenotypic expression
Two distinct Types
Type I: dense arcus with centralized crystals
Type II: dense arcus with centralized haziness/cloudyness
-Expound on unique features
Mutated gene located on Chromosome 1
Etiology of improper metabolism of lipids in corneal tissue
Membrane bound vacuoles of lipid
Decreased corneal sensitivity
Associated with hyperlipidemia
Decreased vision by fourth decade
V. Treatment, management
-Treatment and response to treatment:
Currently monitoring until vision decreases
Consult primary care physician about addressing lipids
Systemic treatment for hyperlipidemia
Penetrating Keratoplasty
Phototherapeutic Keratectomy
-Refer to research where appropriate
-Bibliography, literature review encouraged
1. Paparo LG, Rapuano CJ, Raber IM, et al. Phototherapeutic keratectomy for Schnyders Crystalline
corneal dystrophy. Cornea 2000; 19:343-7 Br J Ophthalmol. 1998;82:444–447
2. Andrew Orr A., Dubé M., et. al. Mutations in the UBIAD1 Gene, Encoding a Potential
Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy
3. Shearman AM, Hudson TJ, Andersen JM, et al The gene for Schnyder’s crystalline corneal
dystrophy maps to human chromosome 1p 34.1- p36 Hum Mol Genet. 1996;5:1667-72
VI. Conclusion
-Clinical pearls, take away points if indicate
Corneal Dystrophies are commonly bilateral and central
Treating underlying systemic cause prior to transplant surgery may prevent
recurrence of dystrophy into graft.