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

Individuals typically present with bilateral and slow vision loss starting in the first or second decade of life. [eyewiki.aao.org]

• Pallor

  Disc morphology showed temporal disc pallor in 30 eyes (52%) and total disc pallor in 28 eyes (48%). At least one disc showed a cup to disc ratio of more than 0.5 in 18 patients (28 discs, 48%). [ncbi.nlm.nih.gov]

  Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. [jhu.pure.elsevier.com]

  Moderate to severe temporal or diffuse pallor can be seen. The optic disc has been described as normal in 29% of documented carriers and 20% have no visual field defect. Pallor of the complete disc is found in only 10%. [disorders.eyes.arizona.edu]

• Camping

  University of California-San Diego, La Jolla, CA, USA Date of Submission 02-Jul-2014 Date of Acceptance 01-Sep-2014 Date of Web Publication 2-Dec-2014 Correspondence Address : Peter J Savino Shiley Eye Center, University of California-San Diego, 9415 Camp [ijo.in]

  Ann Neurol. 2008; 63 :667–71. [ PubMed : 18360822 ] Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G. [ncbi.nlm.nih.gov]

• Epilepsy

  […] of mitochondrial dysfunction [for a review see Ref. ( 2 )] such as OPA1 “plus” syndrome ( 3 ), mitochondrial encephalomyopathy lactic acidosis and stroke-like syndrome (MELAS) ( 4 ), LHON/dystonia/MELAS/Leigh overlapping syndrome ( 5, 6 ), myoclonic epilepsy [doi.org]

  A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat. [frontiersin.org]

• Pathologist

  Tissue pathways for urological pathology The target primary users of the tissue pathway are trainee and consultant cellular pathologists. These recommendations will also be of value to trainee/qualified biomedical scientists involved in... [evidence.nhs.uk]

• Surgical Procedure

  Procedures and Post-operative Cases Trauma (Injury) Orbit Retina Sclera Strabismus, Ocular Motility Disorders Systemic Diseases Vitreous Z Videos Z-iPodcasts Z_Op-Videos Endorsed by iPod Podcasting Hereditary Autosomal Dominant Opticus Atrophy Optic [atlasophthalmology.net]

• 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]

  Showing of 28 | 80%-99% of people have these symptoms Impaired pain sensation Decreased pain sensation 0007328 Optic atrophy 0000648 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms Color vision defect Abnormal color vision [rarediseases.info.nih.gov]

  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]

• 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]

• Central Scotoma

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

  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]

  Central-seco scotomas were evident in both eyes, with the loss extending into both foveas. [healio.com]

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

• Visual Impairment

  The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity. The average age-at-onset was 15.9years. [ncbi.nlm.nih.gov]

  Visual impairment is usually moderate (visual acuity ranges from 20/80 to 20/120) but may range from mild to severe. Visual field defect is typically centrocecal, central, or paracentral. [orpha.net]

  Patient IV.6, a female born in 1953, had visual impairment from early infancy. The diagnosis of optic atrophy was made in infancy and she received special education for visually impaired children. [jmg.bmj.com]

  Interestingly, in our study family with visual impairment by optic neuropathy, there were no signs that the hearing impairment is caused by auditory neuropathy. [molvis.org]

  Abnormality of color vision [ more ] 0000551 Reduced tendon reflexes 0001315 Visual impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 5%-29% of people have these symptoms Abnormality of visual evoked potentials 0000649 Ataxia 0001251 [rarediseases.info.nih.gov]

• Visual Impairment

  The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity. The average age-at-onset was 15.9years. [ncbi.nlm.nih.gov]

  Visual impairment is usually moderate (visual acuity ranges from 20/80 to 20/120) but may range from mild to severe. Visual field defect is typically centrocecal, central, or paracentral. [orpha.net]

  Patient IV.6, a female born in 1953, had visual impairment from early infancy. The diagnosis of optic atrophy was made in infancy and she received special education for visually impaired children. [jmg.bmj.com]

  Interestingly, in our study family with visual impairment by optic neuropathy, there were no signs that the hearing impairment is caused by auditory neuropathy. [molvis.org]

  Abnormality of color vision [ more ] 0000551 Reduced tendon reflexes 0001315 Visual impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 5%-29% of people have these symptoms Abnormality of visual evoked potentials 0000649 Ataxia 0001251 [rarediseases.info.nih.gov]

• 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]

  acuity Decreased clarity of vision 0007663 Tritanomaly Blue yellow color blindness 0000552 Showing of 28 | Last updated: 6/1/2019 Autosomal dominant optic atrophy plus syndrome (ADOA plus) is caused by mutations (changes) in the OPA1 gene. [rarediseases.info.nih.gov]

  Patient V.1, a female born in 1967, first had a decrease in visual acuity at the age of 12. At age 18, visual acuity was 4/10 in each eye. [jmg.bmj.com]

• Peripheral Neuropathy

  Other symptoms of ADOA plus may develop in adulthood and include muscle weakness ( myopathy ), weakness of the eye muscles ( ophthalmoplegia ), trouble coordinating movements ( ataxia ), and pain and tingling in the arms and legs ( peripheral neuropathy [rarediseases.info.nih.gov]

  In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs, that occur typically later in life, such as myopathy, ataxia, peripheral neuropathy, chronic progressive external ophthalmoplegia [orpha.net]

  In complicated cases of autosomal dominant optic atrophy, in addition to bilateral optic neuropathy, several other neurological signs of neurological involvement can be observed: peripheral neuropathy, deafness, cerebellar ataxia, spastic paraparesis, [en.wikipedia.org]

  Extremely rarely there may be neurologic abnormalities, such as peripheral neuropathy, postural tremor, nonspecific myopathy, and movement disorders. LHON is caused by mutations in mitochondrial DNA and it is transmitted by maternal inheritance. [rarediseases.org]

• Extrapyramidal Symptoms

  None of our patients displayed dysautonomia or extrapyramidal symptoms, although Miyashiro et al. 27 recently reported a case with associated parkinsonism and dystonia. [elsevier.es]

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]

  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]

  Central-seco scotomas were evident in both eyes, with the loss extending into both foveas. [healio.com]

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

It provides molecular insights for clinical genetic diagnosis and treatment of optic atrophy. Publication type, MeSH terms, Substances Publication type Research Support, Non-U.S. [ncbi.nlm.nih.gov]

Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a... [evidence.nhs.uk]

Treatment options include visual and hearing aids. [rarediseases.info.nih.gov]

Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options. [books.google.de]

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 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]

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]

In addition, there was nothing in the history that suggested a toxic etiology. Genetic testing Molecular genetic testing can be helpful in diagnosing autosomal dominant optic atrophy. [healio.com]

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]

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

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]

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]

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]

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]

A., PEARCE-KELLING S., LI Z., 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. [genodog.fr]