Gene: [03q2/OPA1] optic atrophy 1 (autosomal dominant, Kjer type); [OAK ]
|
HET |
Several clinical types of optic atrophy are described (such as congenital and infant types, each with autosomal dominant and recessive inheritance; X-linked Leber type, and others, see, e.g., GEM:0Xp11/OPA2). Precise clinical genetic identification of autosomal types is currently difficult." |
|
REF |
PHE,FOG "Cadwell &: Arch Ophthal, 85, 133-147, 1971 LIN,LOC "Eiberg H &: Hum Mol Genet, 3, 977-980, 1994 HIS,PAT,PHE,FOG "Iverson HA: Arch Ophthal, 59, 850-853, 1958 PHE,FOG "Johnston &: Am J Ophthal, 88, 868-875, 1979 LIN,LOC "Kivlin JD &: CCG, 37, (HGM7), 512, 1984 LIN,LOC "Kivlin JD &: AJHG, 35, 1190-1195, 1983 LIN,LOC "Lunkes A &: AJHG, 57, 968-970, 1995 PHE,FOG "Smith DP: Am J Optom, 49, 183-200, 1972 FOG,ASS "Stendahl-Brodin &: J Neurol Sci, 38, 11-21, 1978 |
|
KEY |
neu, eye |
|
CLA |
unknown, basic |
|
LOC |
03 q28-29 |
|
MIM |
MIM: 165500 |
|
SYN |
OAK |
