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Crystalline Dystrophy Workup

  • Author: Jayne S Weiss, MD; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Aug 11, 2016
 

Laboratory Studies

Both affected and unaffected members of SCCD pedigrees may have hyperlipidemia and/or hypercholesterolemia.

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Other Tests

Confocal microscopy in more advanced stages of SCCD may reveal the absence of corneal nerves.

Genetic testing should reveal mutations in the UBIAD1 gene in affected individuals.

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Histologic Findings

Histopathology shows unesterified and esterified cholesterol in basal epithelium; Bowman layer; stroma; and, occasionally, endothelium. Electron microscopy reveals dissolved lipid particles scattered in the subepithelial space throughout the stroma and, rarely, the endothelium. Immunohistochemical analysis has revealed the preferential deposition of apolipoprotein components of HDL. Deposition of cholesterol crystals in patients with SCCD (see the image below) resembles deposition of cholesterol crystals in human atherosclerotic lesions.

A 20-year-old woman with ringlike deposition of anA 20-year-old woman with ringlike deposition of anterior stromal cholesterol crystals. Weiss JS: Schnyder's dystrophy of the cornea: a Swede-Finn connection. Cornea 1992; 11(2): 93-101.
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Contributor Information and Disclosures
Author

Jayne S Weiss, MD Professor of Ophthalmology, Director of Refractive Surgery, Kresge Eye Institute, Wayne State University

Jayne S Weiss, MD is a member of the following medical societies: American Ophthalmological Society, Association for Research in Vision and Ophthalmology, Alpha Omega Alpha, American Academy of Ophthalmology, Eye Bank Association of America, Phi Beta Kappa

Disclosure: Nothing to disclose.

Coauthor(s)

Brad Spagnolo, MD 

Brad Spagnolo, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Cataract and Refractive Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Christopher J Rapuano, MD Professor, Department of Ophthalmology, Jefferson Medical College of Thomas Jefferson University; Director of the Cornea Service, Co-Director of Refractive Surgery Department, Wills Eye Hospital

Christopher J Rapuano, MD is a member of the following medical societies: American Academy of Ophthalmology, American Ophthalmological Society, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, International Society of Refractive Surgery, Cornea Society, Eye Bank Association of America

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cornea Society, Allergan, Bausch & Lomb, Bio-Tissue, Shire, TearScience, TearLab<br/>Serve(d) as a speaker or a member of a speakers bureau for: Allergan, Bausch & Lomb, Bio-Tissue, TearScience.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Fernando H Murillo-Lopez, MD Senior Surgeon, Unidad Privada de Oftalmologia CEMES

Fernando H Murillo-Lopez, MD is a member of the following medical societies: American Academy of Ophthalmology

Disclosure: Nothing to disclose.

References
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A 22-year-old woman with circular corneal opacity best seen in retroillumination. Weiss JS: Schnyder's dystrophy of the cornea: a Swede-Finn connection. Cornea 1992; 11(2): 93-101.
A 20-year-old woman with ringlike deposition of anterior stromal cholesterol crystals. Weiss JS: Schnyder's dystrophy of the cornea: a Swede-Finn connection. Cornea 1992; 11(2): 93-101.
A 37-year-old man with central disclike opacity, affecting the entire stromal thickness, anterior stromal cholesterol crystals, and peripheral arcus lipoides. Weiss JS: Schnyder's dystrophy of the cornea: a Swede-Finn connection. Cornea 1992; 11(2): 93-101.
A 78-year-old woman with dense arcus lipoides in the corneal periphery, sparing the corneal scleral limbus. Weiss JS: Schnyder's dystrophy of the cornea: a Swede-Finn connection. Cornea 1992; 11(2): 93-101.
The natural history of Schnyder dystrophy with age. Weiss JS: Schnyder's dystrophy of the cornea: a Swede-Finn connection. Cornea 1992; 11(2): 93-101.
 
 
 
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