Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).
Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see 125250. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).
Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; 535000), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders.
Genetic Heterogeneity of Optic Atrophy
Also see optic atrophy-2 (OPA2; 311050), mapped to chromosome Xp11.4-p11.21; OPA3 (165300), caused by mutation in the OPA3 gene (606580) on chromosome 19q13; OPA4 (605293), mapped to chromosome 18q12.2-q12.3; OPA5 (610708), caused by mutation in the DNM1L gene (603850) on chromosome 12p11; OPA6 (258500), mapped to chromosome 8q21-q22; OPA7 (612989), caused by mutation in the TMEM126A gene (612988) on chromosome 11q14; OPA8 (616648), mapped to chromosome 16q21-q22; OPA9 (616289), caused by mutation in the ACO2 gene (100850) on chromosome 22q13; OPA10 (616732), caused by mutation in the RTN4IP1 gene (610502) on chromosome 6q21; OPA11 (617302), caused by mutation in the YME1L1 gene (607472) on chromosome 10p12; OPA12 (618977), caused by mutation in the AFG3L2 gene (604581) on chromosome 18p11; OPA13 (165510), caused by mutation in the SSBP1 gene (600439) on chromosome 7q34; OPA14 (620550), caused by mutation in the MIEF1 gene (615497) on chromosome 22q13; OPA15 (620583), caused by mutation in the MCAT gene (614479) on chromosome 22q13; and OPA16 (620629), caused by mutation in the MECR gene (608205) on chromosome 1p35. [from OMIM]
- MedGen UID:
- 137902
- •Concept ID:
- C0338508
- •
- Disease or Syndrome