Symptoma

Autosomal Dominant Optic Atrophy

DOA

MATERIALS AND METHODS: The proband, a 10-year-old boy, presented with progressive visual failure. [ncbi.nlm.nih.gov]

  • Burning Pain

    Additional symptoms consisted of intractable constipation alternating with severe diarrhea since childhood, together with gait unsteadiness, paresthesias in the four extremities, cramps, and burning pain in the lower limbs since the age of 35. [karger.com]

  • Hearing Impairment

    We identified one novel WFS1 missense mutation E864K, c.2590G-- A in exon 8 that co-segregates with ADOA combined with hearing impairment and impaired glucose regulation. [ncbi.nlm.nih.gov]

    Neither the maternal grandparents nor the uncle of the proband had hearing impairment. All affected individuals had no symptoms additional to progressive sensorineural hearing impairment and optic atrophy. [molvis.org]

    In about 10–20% of ADOA cases a more severe ADOA “plus” phenotype (DOA ; OMIM: # 125250) with extra-ophthalmic manifestation e.g. sensorineural hearing impairment and neuromuscular symptoms has been reported [ 6 – 8 ]. [journals.plos.org]

  • Central Scotoma

    Early loss of inferior temporal RNFL in ADOA is related to superotemporal central scotoma. [ncbi.nlm.nih.gov]

    Humphrey visual field test shows cecocentral scotoma in right eye and central scotoma in left eye. [eyewiki.aao.org]

    Goldmann visual field examination revealed bilateral central scotoma, and slit-lamp examination showed bilateral cerulean cataract. Electroretinography was normal and visual-evoked potentials showed bilateral optic nerve dysfunction. [karger.com]

    Leber's hereditary optic neuropathy Dominant optic atrophy Optic neuropathy Color vision defect Tritan color vision defect Blue-yellow color vision defect Central scotoma Maternal inheritance Mitochondrial inheritance Mutation DNA Mitochondria. [journals.lww.com]

  • Visual Acuity Decreased

    Visual acuity decreased with decreasing GC-IPL thickness (p 0.0006 in c.983A G and p 0.0084 in c.2708_2711delTTAG). [ncbi.nlm.nih.gov]

    It is a childhood onset disorder typically characterized by a progressive loss in central vision, color vision deficits (dyschromatopsia), decreased visual acuity, decreased sensitivity of the central retinal field (paracentral scotomas), and asymmetric [egl-eurofins.com]

    Her visual acuity decreased from age 10. Bilateral cataract was diagnosed at age 45, and she is currently legally blind. Patient IV.1, a female born in 1971, suffered a decrease in visual acuity from age 6. [jmg.bmj.com]

Clinical Presentation of LHON/DOA and Clinical Workup Leber’s hereditary optic neuropathy typically affects young adult males presenting with unilateral or bilateral subacute/acute painless loss of central vision. [doi.org]

  • Central Scotoma

    Early loss of inferior temporal RNFL in ADOA is related to superotemporal central scotoma. [ncbi.nlm.nih.gov]

    Humphrey visual field test shows cecocentral scotoma in right eye and central scotoma in left eye. [eyewiki.aao.org]

    Goldmann visual field examination revealed bilateral central scotoma, and slit-lamp examination showed bilateral cerulean cataract. Electroretinography was normal and visual-evoked potentials showed bilateral optic nerve dysfunction. [karger.com]

    Leber's hereditary optic neuropathy Dominant optic atrophy Optic neuropathy Color vision defect Tritan color vision defect Blue-yellow color vision defect Central scotoma Maternal inheritance Mitochondrial inheritance Mutation DNA Mitochondria. [journals.lww.com]

We showed an increased percentage of apoptotic cells in ADOA patients compared to controls, both in basal culture conditions and after 2-deoxy-D-ribose treatment. [ncbi.nlm.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment Treatment Options: No effective treatment is available. [disorders.eyes.arizona.edu]

Visual prognosis is relatively good in Kjer's dominant optic atrophy with stable or slow progression of visual loss. [ncbi.nlm.nih.gov]

It addresses diagnosis, pathophysiology, management and prognosis and is written in a clear, concise style for quick, easy reference in the clinic. [books.google.de]

Prognosis for visual improvement in Leber's hereditary optic neuropathy is poor, with the specific rate highly dependent on which mitochondrial DNA mutation is present. [medical-dictionary.thefreedictionary.com]

Prognosis Vision seems to be more severely affected in patients with ADOA plus than in patients with no extra ocular involvement. If associated, hearing loss can further impair social communication. [orpha.net]

Etiology and Pathophysiology Genetic etiologies usually involve defects in mitochondrial function. Exposure of retinal nerve cells to light normally results in the generation of free radical species. [unboundmedicine.com]

were unable to determine the etiology of her vision loss. The patient’s eye health history was negative for ocular trauma or strabismus. Her health history was negative for systemic disease. [healio.com]

Etiology ADOA plus is caused by mutations in the OPA1 gene (3q29), encoding a dynamin-like GTPase involved in the fusion of the inner mitochondrial membrane. [orpha.net]

Further epidemiological studies are needed in order to determine the prevalence of ADOA in South-East Asia. [ncbi.nlm.nih.gov]

Further epidemiological studies are needed in order to determine the prevalence of ADOA in Singapore. [iovs.arvojournals.org]

Clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996;74(1):3-7. Votruba M, Fitzke FW, Holder CE, Carter A, Bhattacharya SS, Moore AT. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. [eyewiki.aao.org]

Clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996;74(1):3-7. 2. Votruba M, Fitzke FW, Holder CE, Carter A, Bhattacharya SS, Moore AT. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. [eyewiki.org]

Summary Epidemiology Autosomal dominant optic atrophy plus syndrome (ADOA plus) accounts for approximately 20% of all ADOA cases. [orpha.net]

CONCLUSION: We conclude that the pathophysiology of ADOA likely stems from the role of OPA1 in mitochondrial structure or fusion and not from OPA1 support of oxidative phosphorylation. [ncbi.nlm.nih.gov]

Hereditary optic neuropathies and a proposed common pathophysiology through mitochondrial dysfunction. [eyewiki.org]

Identification of genetic variants that enable this response may provide novel therapeutic insights into OXPHOS compensation for preventing vision loss in optic neuropathies. [ncbi.nlm.nih.gov]

Prevention People noticing a decrease in vision (central and/or side vision) should ask their eye care practitioner for a check up. Patients should also go for regular vision exams. [medical-dictionary.thefreedictionary.com]

The expertise and facilities of the combined site of IoO and Moorfields Eye Hospital (MEH) offers a unique environment in which to pursue eye research and to make advances in the prevention and treatment of disease. [findaphd.com]

Contact Us Venue Hire Job vacancies About Us Our vision is that everyone has access to and receives high quality eye care for the prevention and treatment of eye disease in order to optimise, preserve and restore vision. [rcophth.ac.uk]

et al. (2009) - Steroids do not prevent photoreceptor degeneration in the light-exposed T4R rhodopsin mutant dog retina irrespective of AP-1 inhibition. Invest. Ophthalmol. Vis. Sci. 50, 3482–3494. IWABE S., YING G.-S., AGUIRRE G. D. & BELTRAN W. [genodog.fr]