Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Crystalline Dystrophy Clinical Presentation

  • Author: Jayne S Weiss, MD; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Sep 12, 2013
 

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.
Next

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.
Previous
Next

Causes

See Pathophysiology.

Previous
 
 
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
  1. Van Went JM, Wibaut F. Een zyeldzame erfelijke hoornvliesaandoening. Ned Tijdschr Geneeskd. 1924. 68(B):2996-2997.

  2. Schnyder WF. Mitteilung uber einen neuen Typus von familiarer hornhauterkrankung. Schweiz Med Wochenschr. 1929. 59:559-571.

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

  4. Bron AJ. Corneal changes in the dislipoproteinaemias. Cornea. 1989. 8(2):135-40. [Medline].

  5. Bron AJ, Williams HP, Carruthers ME. Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia. Br J Ophthalmol. 1972 May. 56(5):383-99. [Medline].

  6. Delleman JW, Winkelman JE. Degeneratio corneae cristallinea hereditaria. A clinical, genetical and histological study. Ophthalmologica. 1968. 155(5):409-26. [Medline].

  7. Freddo TF, Polack FM, Leibowitz HM. Ultrastructural changes in the posterior layers of the cornea in Schnyder's crystalline dystrophy. Cornea. 1989 Sep. 8(3):170-7. [Medline].

  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. 1996 Aug. 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. 1994 May. 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. 2007 Aug 1. 2(1):e685. [Medline].

  14. Philipson BT. Fish eye disease. Birth Defects Orig Artic Ser. 1982. 18(6):441-8. [Medline].

  15. Rodrigues MM, Kruth HS, Krachmer JH, et al. Unesterified cholesterol in Schnyder's corneal crystalline dystrophy. Am J Ophthalmol. 1987 Aug 15. 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. 2004 May. 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. 1999 May. 106(5):944-51. [Medline].

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

  19. Weiss JS. Schnyder's dystrophy of the cornea: a Swede-Finn connection. Cornea. 1992 Mar. 11(2):93-101. [Medline].

  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. 2007 Nov. 48(11):5007-12. [Medline].

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

  23. Weller RO, Rodger FC. Crystalline stromal dystrophy: histochemistry and ultrastructure of the cornea. Br J Ophthalmol. 1980 Jan. 64(1):46-52. [Medline].

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

Previous
Next
 
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.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.