Gene: [10q24/CDB2] corneal dystrophy of Bowman's layer type II (Thiel-Behnke); [CDTB ]
|
COM |
In a large 4-generation family, Sullivan et al. showed that the Thiel-Behnke form of corneal dystrophy was linked to 10q24 (Sullivan-1997)." |
|
PAT |
Thiel-Behnke corneal dystrophy is a progressive disease of the anterior basement membrane that leads to scarring, pain, and photophobia." |
|
CAG |
Previously this form of corneal dystrophy was grouped with Reis-Bucklers corneal dystrophy (see GEM:05q31/TGFBI) or with Meesmann corneal dystrophy caused by mutation in the keratin 12 gene (GEM:17q/KRT12) or in the keratin 3 gene (GEM:12q1/KRT3)." |
|
REF |
PAT "Kuchle M &: Cornea, 14, 333-354, 1995 PAT,LOC,LIN "Sullivan LS &: AJHG, 61, (suppl), A296, 1997 |
|
KEY |
eye |
|
CLA |
unknown, basic |
|
LOC |
10 q24 |
|
MIM |
MIM: 602082 |
|
SYN |
CDTB |
