Brittle Cornea Syndrome and Its Delineation from the Kyphoscoliotic Type of Ehlers-Danlos Syndrome (EDS VI): Report on 23 Patients and Review of the Literature

American Journal of Medical Genetics

Volumn 124 A, Issue 1, 2004, Pages 28-34

  Al Hussain, Hailah ^a   Zeisberger, Steffen M ^b   Huber, Peter R ^c   Giunta, Cecilia ^b   Steinmann, Beat ^b  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

Autosomal recessive; Collagens; Connective tissue disorder; Electron microscopy; Human; Pyridinoline crosslinks

Indexed keywords

COLLAGEN; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; PYRIDINOLINE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRITTLE CORNEA SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; CORNEA DISEASE; CORNEA PERFORATION; CROSS LINKING; DISEASE ACTIVITY; DISEASE COURSE; EHLERS DANLOS SYNDROME; ELECTRON MICROSCOPY; ENZYME ACTIVITY; EYE INJURY; FEMALE; FIBROBLAST; FOLLOW UP; GENETIC TRAIT; HUMAN; HUMAN CELL; KERATOCONUS; KYPHOSCOLIOSIS; MALE; PRIORITY JOURNAL; PROGNOSIS; SAUDI ARABIA; SCLERA DISEASE;

EID: 0942276980     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20326     Document Type: Article

References (37)

1. Arkin W. 1964. Blue scleras with keratoglobus. Am J Ophthalmol 58:678-682.
2. Attiah MAH. 1933. Blue sclerotics. Bull Ophthalmol Soc Egypt 26:96-104.
3. Babel J, Houber J-P. 1969. Keratocone et sclérotiques bleues dans une anomalie congénitale du tissue conjonctif. J Genet Hum 17:241-246.
4. Batke G. 1941. Über einen eigenartigen Fall von Keratokonus und blauen Skleren bei Geschwistern. Klin Monatsbl Augenheilkd 106:585-592.
5. Behr C. 1913. Beitrag zur Aetiologie des Keratokonus. Klin Monatsschr Augenheilkd 16:281-284.
6. Behrens-Baumann W, Gebauer H-J, Langenbeck U. 1977. Blaue Sklera-Syndrom und Keratoglobus (oculärer Typ des Ehlers-Danlos-Syndroms). Albrecht Graefes Arch Klin Exp Ophthalmol 204:235-246.
7. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. 1998. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. Am J Med Genet 77:31-37.
8. Biglan AW, Brown SI, Johnson BL. 1977. Keratoglobus and blue sclera. Am J Ophthalmol 83:225-233.
9. Cadle RG, Hall BD, Waziri M. 1985. Phenotypic Ehlers-Danlos type VI with normal lysyl hydroxylase activity and macrocephaly. Am J Hum Genet 37:48 (only, abstract).
10. Cameron JA. 1993. Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea 12:54-59.
11. Cameron JA, Cotter JB, Risco JM, Alvarez H. 1991. Epikeratoplasty for keratoglobus associated with blue sclera. Ophthalmology 98:446-452.
12. Greenfield G, Stein R, Romano A, Goodman RM. 1973. Blue sclerae and keratoconus: Key features of a distinct heritable disorder of connective tissue. Clin Genet 4:8-16.
13. Gregoratos ND, Bartsocas CS, Papas K. 1971. Blue sclerae with keratoglobus and brittle cornea. Br J Ophthalmol 55:424-426.
14. Heim P, Raghunath M, Meiss L, Heise U, Myllylä R, Kohlschütter A, Steinmann B. 1998. Ehlers-Danlos syndrome type VI (EDS VI): Problems of diagnosis and management. Acta Paediatr 87:708-710.
15. Hyams ND, Dar H, Neumann E. 1969. Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder. Br J Ophthalmol 55:53-58.
16. Ihme A, Risteli L, Krieg T, Risteli J, Feldmann U, Kruse K, Müller PK. 1983. Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI. Eur J Clin Invest 13:357-362.
17. Izquierdo L Jr, Mannis MJ, Marsh PB, Yang SP, McCarthy JM. 1999. Bilateral spontaneous corneal rupture in brittle cornea syndrome: A case report. Cornea 18:621-624.
18. Jarisch A, Giunta C, Zielen S, König R, Steinmann B. 1998. Sibs affected with both Ehlers-Danlos syndrome type VI and cystic fibrosis. Am J Med Genet 78:455-460.
19. Judisch GF, Waziri M, Krachmer JH. 1976. Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity. Arch Ophthalmol 94:1489-1491.
20. Lichtenstein SB. 1995. Management of penetrating and perforating injuries to the anterior segment. In: Tasman W, Jaeger EA, editors. Duane's clinical ophthalmology. Vol 5. Philadelphia: Lippincott-Raven. pp 1-9.
21. Macsai MS, Lemley HL, Schwartz T. 2000. Management of oculus fragilis in Ehlers-Danlos type VI. Cornea 19:104-107.
22. McKusick VA. 1998. Mendelian inheritance in man. A catalog of human genes and genetic disorders. 12th edition. Baltimore: Johns Hopkins University Press. Online version OMIM.
23. Ogur G, Baykan N, De Paepe A, Steinmann B, Quatacker J, Kuseyri F, Yüksel-Apak M. 1994. Clinical, ultrastructural, and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like features. Clin Genet 46:417-422.
24. Ratcliff CD, Belin MW. 1996. Ehlers-Danlos syndrome. In: Mannis MJ, Macsai MS, Huntley AC, editors. Eye and skin disease. Philadelphia: Lippincott-Raven. pp 45-53.
25. Royce PM, Moser U, Steinmann B. 1989. Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid. Matrix 9:147-149.
26. Royce PM, Steinmann B, Vogel A, Steinhorst U, Kohlschütter A. 1990. Brittle cornea syndrome: An heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. Eur J Pediatr 149:465-469.
27. Stein R, Lazar M, Adam A. 1968. Brittle cornea. A familial trait associated with blue sclera. Am J Ophthalmol 66:67-69.
28. Steinhorst U, Kohlschütter A, Steinmann B, von Domarus D. 1988. Brittle cornea syndrome: A hereditary disease of connective tissue with spontaneous corneal perforation. Fortschr Ophthalmol 85:659-661.
29. Steinmann B, Gitzelmann R, Vogel A, Grant ME, Harwood R, Sear CH. 1975. Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. Helv Paediatr Acta 30:255-274.
30. Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann R, Byers PH. 1984. Cysteine in the triple-helical domain of one allelic product of the alphal(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem 259:11129-11138.
31. Steinmann B, Eyre DR, Shao P. 1995. Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. Am J Hum Genet 57:1505-1508.
32. Steinmann B, Giunta C, Huber P. 2000. The diagnosis of the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VI). J Inher Metab Dis 23(Suppl 1):276.
33. Steinmann B, Royce PM, Superti-Furga A. 2002. The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders: Molecular, genetic, and medical aspects. 2nd edition. New York: Wiley-Liss. pp 431-523.
34. Ticho U, Ivry M, Merin S. 1980. Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). Br J Ophthalmol 64:175-177.
35. Tucker D. 1959. Blue sclerotics syndrome simulating buphthalmos. Am J Ophthalmol 47:345-348.
36. Vogel A, Holbrook KA, Steinmann B, Gitzelmann R, Byers PH. 1979. Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab Invest 40:201-206.
37. Zlotogora J, BenEzra D, Cohen T, Cohen E. 1990. Syndrome of brittle cornea, blue sclera, and joint hyperextensibility. Am J Med Genet 36:269-272.