Individual phenotypic variances in a family with thiel-behnke corneal dystrophy

Cornea

Volumn 31, Issue 11, 2012, Pages 1217-1222

  Nakamura, Hisashi ^a   Li, Frank T ^a   Foltermann, Miles O ^a   MacSai, Marian ^b   Ma, Xiaoping ^a   Zhao, Xinping C ^a   Flaherty, Kevin ^c   Yee, Richard W ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b Glenbrook Hospital   (United States)

^c Eye Clinic of Wisconsin   (United States)

Author keywords

chromosome 10; corneal dystrophy; phenotype variation; Thiel?Behnke

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 10; CHROMOSOME MAP; CLINICAL ARTICLE; CORNEA DYSTROPHY; FAMILY STRESS; FEMALE; GEOGRAPHIC DISTRIBUTION; HUMAN; MALE; PEDIGREE ANALYSIS; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCHOOL CHILD; SLIT LAMP; THIEL BEHNKE CORNEA DYSTROPHY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; GENETIC VARIATION; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84867403070     PISSN: 02773740     EISSN: 15364798     Source Type: Journal    
DOI: 10.1097/ICO.0b013e3181c32efd     Document Type: Article

References (21)

1. Thiel HJ, Behnke H. Eine bisher unbekannte subepithliale hereditaere Hornhautdystrophie. Klin Monatsbl Augenheilkd. 1967;150:577-630.
2. Behnke H, Thiel HJ. A previously unrecognized form of subepithelial corneal dystrophy inherited as an autosomal dominant. Ger Med Mon. 1967;12:285.
3. Weidle EG. Honeycomb-shaped corneal dystrophy of Thiel and Behnke. Reclassification and distinction from Reis-Bücklers corneal dystrophy. Klin Monatsbl Augenheilkd. 1999;214:125-135.
4. Ridgway AE, Moller HU. Genetics of granular dystrophy. Ophthalmology. 1992;99:1753.
5. Amm M. Photo-therapeutic keratectomy (PTK) - a successful treatment for Thiel-Behnke dystrophy and its recurrence. Ophthalmologe. 1999;96: 489-493.
6. Kasetsuwan N, Puangsricharern V, Piriyakanok L. Excimer laser phototherapeutic keratectomy for corneal diseases. J Med Assoc Thai. 2000;83:475-482.
7. Stewart OG, Pararajasegaram P, Cazabon J, et al. Visual and symptomatic outcome of excimer phototherapeutic keratectomy (PTK) for corneal dystrophies. Eye. 2002;16:126-131.
8. Sorour HM, Yee SB, Peterson NJ, et al. Recurrence of chromosome 10 Thiel-Behnke corneal dystrophy (CDB2) after excimer laser phototherapeutic keratectomy or penetrating keratoplasty. Cornea. 2005;24: 45-50.
9. Kuchle M, Green WR, Volker HE, et al. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): A light and electron microscopic study of eight corneas and a review of the literature. Cornea. 1995;14:333-354.
10. Munier FL, Korvatska E, Diemi A, et al. Kerato-epithelin mutations in four 5-31-linked corneal dystrophies. Nat Genet. 1997;15:247-251.
11. Yee RW, Sullivan LS, Lai, HT, et al. Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10-23-q24. Genomics. 1997; 46:152-154.
12. Reis W. Familiare fleckige Hornhautentartung. Dtsch Med Wochenschr. 1971;43:575.
13. Bücklers M. Ueber eine weiter familiare Hornhaut dystrophie (Reis). Klin Monatsbl Augenheilkd. 1949;114:386-397.
14. Dighiero P, Niel F, Ellies P, et al. Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. Ophthalmology. 2001;108:818-823.
15. Chan CC, Cogan DG, Bucci FS, et al. Anterior corneal dystrophy with dyscollagenosis (Reis-Bücklers type?). Cornea. 1993;12:451-460.
16. Fine BS, Yanoff M, Pitts E, et al. Meesmann's epithelial dystrophy of the cornea. Am J Ophthalmol. 1977;83:633-642.
17. Irvine AD, Corden LD, Swensson O, et al. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 1997;16:184-187.
18. Small KW, Mullen L, Barletta J, et al. Mapping of Reis-Bucklers' corneal dystrophy to chromosome 5q. Am J Ophthalmol. 1996;121:384-390.
19. Moller HU. Granular cornea dystrophy Groenouw Type 1 and Reis- Bucklers corneal dystrophy: One entity? Acta Ophthalmol. 1982;67: 679-684.
20. Ellies P, Renard G, Valleix S, et al. Clinical outcome of eight BIGH3- linked corneal dystrophies. Ophthalmology. 2002;109:793-797.
21. Auw-Hadrich C, Witschel H. Corneal dystrophies in the light of modern molecular genetic research. Ophthalmologe. 2002;99:418-426.