IllnessOptic atrophy, autosomal dominant; differential diagnosis

NGS +

[Sanger]

Optic atrophy or optic neuropathy is the end stage of a disease process affecting the retinogenic part of the visual pathway by neurovascular degeneration. Dominant optic neuropathies are also characterized by degeneration of retinal ganglion cells, leading to bilateral optic atrophy and progressive loss of visual acuity. In addition, these patients often suffer from impaired color vision. Among the most common forms of hereditary optic neuropathies is dominant optic atrophy, which may be accompanied by sensorineural hearing loss or severe neurologic symptoms in one-fifth of cases. In the disease, neuronal and axonal energy supply by mitochondria is affected. Autosomal dominant optic atrophy is usually diagnosed in the first decade of life. Molecular genetic diagnosis provides a conclusive result in the majority of cases studied. However, inconspicuous genetic findings do not mean exclusion of the suspected ophthalmologic diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1248/

• Sympt.: Color vision deficits + centrocecal scotoma of variable density
• Sympt.: Visual impairment in early childhood, loss of visual acuity, temporal optic disc pallor
• Alias: AD optic atrophy
• Allelic: 3-methylglutaconic aciduria, type III (OPA3)
• Allelic: Cataract 41 (WFS1)
• Allelic: Charcot-Marie-Tooth disease, axonal, types 2A2A + 2A2B (MFN2)
• Allelic: Deafness, AD 6, 14, 38 (WFS1)
• Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
• Allelic: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
• Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
• Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
• Allelic: Mitochondrial AR ataxia syndrome, includes SANDO + SCAE (POLG)
• Allelic: Mitochondrial DNA depletion syndrome 14, encephalocardiomyopathic type (OPA1)
• Allelic: Mitochondrial DNA depletion syndrome 4A, Alpers + 4B, MNGIE type (POLG)
• Allelic: Progressive external ophthalmoplegia, AR 1
• Allelic: Spastic ataxia 5, AR (AFG3L2)
• Allelic: Spastic paraplegia 43, AR (C19orf12)
• Allelic: Spinocerebellar ataxia 28 (AFG3L2)
• Behr syndrome (OPA1)
• Bosch-Boonstra-Schaaf optic atrophy syndrome (NR2F1)
• Harel-Yoon syndrome (ATAD3A)
• Hereditary motor + sensory neuropathy VIA (MFN2)
• Infantile cerebellar-retinal degeneration (ACO2)
• Neurodegeneration with brain iron accumulation 4 (C19orf12)
• Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Optic atrophy 1 (OPA1)
• Optic atrophy 12 (AFG3L2)
• Optic atrophy 13 with retinal + foveal abnormalities (SSBP1)
• Optic atrophy 3 with cataract (OPA3)
• Optic atrophy 5 (DNM1L)
• Optic atrophy 9 (ACO2)
• Optic atrophy plus syndrome (OPA1)
• Progressive external ophthalmoplegia, AD 1 (POLG)
• Retinitis pigmentosa 79 (HK1)
• Wolfram syndrome 1 (WFS1)
• Wolfram-like syndrome, AD (WFS1)