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