Crystalline Dystrophy Clinical Presentation

  • Author: Jayne S Weiss, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Nov 28, 2011
 

History

The dystrophy can appear as early as the first year of life. Progression is slow. See the following image.

The natural history of Schnyder dystrophy with ageThe 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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Physical

Typically, SCCD can be diagnosed clinically. The diagnosis may be more difficult in patients without crystals.

  • The corneal findings are predictable on the basis of the patient's age. Loss of corneal sensation may be more profound in advanced cases.
  • Patients who are younger than 23 years demonstrate only a central corneal opacity (as depicted below), which may involve the entire stroma with or without central subepithelial cholesterol crystals. Central corneal mosaic opacities have been reported. Patients possess excellent visual acuity and normal corneal sensation. A 22-year-old woman with circular corneal opacity 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.
  • Patients aged 23-39 years develop arcus lipoides as shown below. Snellen acuity may be diminished if measured under daylight conditions. Corneal sensation begins to decrease. A 37-year-old man with central disclike opacity, aA 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.
  • In patients older than 39 years, a midperipheral, panstromal corneal haze appears that fills in the area between the central opacity and the peripheral arcus.
    • Often, the arcus is dense enough to be seen without a slit lamp as depicted below.A 78-year-old woman with dense arcus lipoides in tA 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.
    • These patients usually demonstrate an objective loss of visual acuity (which appears worse under photopic conditions) and reduced corneal sensation.
  • In some members of families with this dystrophy, the presence of xanthelasma associated with elevated levels of serum cholesterol, triglycerides, and lipoproteins has been described.
  • While scotopic visual acuity may be good, a more accurate assessment of visual function can be obtained by measuring visual acuity under photopic conditions.
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Causes

See Pathophysiology.

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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: Alpha Omega Alpha, American Academy of Ophthalmology, American Ophthalmological Society, Association for Research in Vision and Ophthalmology, Eye Bank Association of America, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Coauthor(s)

Brad Spagnolo, MD  Ophthalmology, Baltimore-Washington Eye Center

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Simon K Law, MD, PharmD  Associate Professor 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, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

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 Institute

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

Disclosure: Allergan Honoraria Speaking and teaching; Allergan Consulting fee Consulting; Alcon Honoraria Speaking and teaching; Inspire Honoraria Speaking and teaching; RPS Ownership interest Other; Vistakon Honoraria Speaking and teaching; EyeGate Pharma Consulting; Inspire Consulting fee Consulting; Bausch & Lomb Honoraria Speaking and teaching; Bausch & Lomb Consulting fee Consulting

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

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, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

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  3. Weiss JS, Khemichian AJ. Differential diagnosis of Schnyder corneal dystrophy. Dev Ophthalmol. 2011;48:67-96. [Medline].

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  8. Gaynor PM, Zhang WY, Weiss JS, et al. Accumulation of HDL apolipoproteins accompanies abnormal cholesterol accumulation in Schnyder's corneal dystrophy. Arterioscler Thromb Vasc Biol. Aug 1996;16(8):992-9. [Medline].

  9. Gibbels E, Schaefer HE, Runee U, et al. Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies. J Neurology. 1985;232(5):283-294. [Medline].

  10. Gjone E. Familial lecithin cholesterol acyltransferase (LCAT) deficiency. Birth Defects Orig Artic Ser. 1982;18(6):423-31. [Medline].

  11. Hoang-Xuan T, Pouliquen Y, Gasteau J. [Schnyder's crystalline dystrophy. II. Association with genu valgum]. J Fr Ophtalmol. 1985;8(11):743-7. [Medline].

  12. McCarthy M, Innis S, Dubord P, et al. Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition. Ophthalmology. May 1994;101(5):895-901. [Medline].

  13. Orr A, Dube MP, Marcadier J, et al. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS ONE. Aug 1 2007;2(1):e685. [Medline].

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  15. Rodrigues MM, Kruth HS, Krachmer JH, et al. Unesterified cholesterol in Schnyder's corneal crystalline dystrophy. Am J Ophthalmol. Aug 15 1987;104(2):157-63. [Medline].

  16. Theendakara V, Tromp G, Kuivaniemi H, et al. Fine mapping of the Schnyder's crystalline corneal dystrophy locus. Hum Genet. May 2004;114(6):594-600. [Medline].

  17. Vesaluoma MH, Linna TU, Sankila EM, et al. In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy. Ophthalmology. May 1999;106(5):944-51. [Medline].

  18. Weiss JS. Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature. Ophthalmology. Mar 1996;103(3):465-73. [Medline].

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  20. Weiss JS. Visual morbidity in thirty three families with Schnyder's crystalline corneal dystrophy. Transactions of the American Ophthalmology Society. In press.

  21. Weiss JS, Kruth HS, Kuivaniemi H, et al. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Invest Ophthalmol Vis Sci. Nov 2007;48(11):5007-12. [Medline].

  22. Weiss JS, Rodrigues MM, Kruth HS, et al. Panstromal Schnyder's corneal dystrophy. Ultrastructural and histochemical studies. Ophthalmology. Jul 1992;99(7):1072-81. [Medline].

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  24. Wu CW, Lin PY, Liu YF, et al. Central corneal mosaic opacities in Schnyder's crystalline dystrophy. Ophthalmology. Apr 2005;112(4):650-3. [Medline].

 
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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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