Dystrophy, Crystalline: Multimedia

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

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

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

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

7. 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].

8. 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].

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

10. 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].

11. 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].

12. 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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14. 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].

15. 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].

16. 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].

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

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

20. 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].

21. 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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Further Reading

Keywords

crystalline dystrophy, Schnyder's crystalline corneal dystrophy, SCCD, Schnyder corneal dystrophy, SCD, hereditary crystalline stromal dystrophy of Schnyder, corneal crystalline dystrophy of Schnyder, crystalline stromal dystrophy, central stromal crystalline corneal dystrophy, Schnyder crystalline dystrophy sine crystals

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.

Medical Editor

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.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
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.

Managing Editor

Christopher J Rapuano, MD, Professor, Department of Ophthalmology, Jefferson Medical College of Thomas Jefferson University; Co-Chairman of the Cornea Service, Co-Chairman 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, Eye Bank Association of America, Pennsylvania Medical Society, and Philadelphia County Medical Society
Disclosure: Allergan Honoraria Speaking and teaching; Allergan Consulting fee Consulting; Alcon Honoraria Speaking and teaching; Inspire Honoraria Speaking and teaching; RPS Ownership interest Other

CME Editor

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.