Symptoma

Optic Atrophy Type 7

OPA7

ORPHA:227976 Synonym(s): - Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: H47.2 OMIM: 612989 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

Presents the findings of key clinical studies with which you are expected to be familiar. Provides thoroughly revised content in every chapter, with extensive updates on new imaging standards and diagnosis and treatment for eye disorders. [books.google.com]

A standard nonlinear click stimulus of 80 µs duration was presented at a repetition rate of 50 Hz and an intensity of 80 ( 3) dB SPL. [molvis.org]

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

Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs. [cmtausa.org]

  • Chronic Fatigue Syndrome

    These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies. [books.google.com]

    Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. J Pediatr. 1999 Oct;135(4):494-9. PubMed PMID: 10518084. Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. [columbiaeye.org]

  • Long Arm

    Physical examination revealed an abnormally long arm span (162 cm) compared with her height (159 cm), long fingers and toes, pes cavus, pectus excavatum, and hypertelorism. [ng.neurology.org]

    Peters' anomaly associated with partial deletion of the long arm of chromosome 11. Am J Ophthalmol. 1984 Jan;97(1):11-5. PubMed PMID: 6696011. Kivlin JD, Lovrien EW, Bishop DT, Maumenee IH. Linkage analysis in dominant optic atrophy. [columbiaeye.org]

  • Central Scotoma

    An autosomal recessive condition (OMIM:612989) of juvenile onset characterised by severe bilateral loss of visual acuity, optic disk pallor, central scotoma, progressive visual loss and optic atrophy, with a loss in the number of nerve fibres arising [medical-dictionary.thefreedictionary.com]

    scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy. [orpha.net]

    OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Note: The disease is caused by mutations affecting the gene represented in this entry. [osenses.com]

    OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. [ghr.nlm.nih.gov]

    OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. {ECO:0000269 PubMed:19327736}. [genecards.org]

  • Visual Field Constriction

    Goldmann perimetry identified bilateral visual field constriction in both patients. [molvis.org]

  • Steppage Gait

    Proprioceptive sensory loss can cause sensory ataxia and a steppage gait. Tasks involving fine motor control of the hands may also become progressively more difficult. [patient.info]

    According to medical records, neurologic examinations revealed bilateral optic atrophy, exotropia, weakness in both tibialis anterior muscles, steppage gait, and hyperreflexia at patellar reflex. [ng.neurology.org]

Our findings confirm that this is indeed not an uncommon presentation of this disorder and we suggest that SPG7 gene analysis should be included in the diagnostic workup of autosomal recessive PEO, especially if spasticity is present. [journals.plos.org]

  • Ophthalmic Test Finding

    Highlights the text with hundreds of clinical and histological images, OCT and other current imaging methods, anatomic details, common ophthalmic test findings, and more. [books.google.com]

  • Central Scotoma

    An autosomal recessive condition (OMIM:612989) of juvenile onset characterised by severe bilateral loss of visual acuity, optic disk pallor, central scotoma, progressive visual loss and optic atrophy, with a loss in the number of nerve fibres arising [medical-dictionary.thefreedictionary.com]

    scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy. [orpha.net]

    OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Note: The disease is caused by mutations affecting the gene represented in this entry. [osenses.com]

    OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. [ghr.nlm.nih.gov]

    OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. {ECO:0000269 PubMed:19327736}. [genecards.org]

  • Absent A-Waves

    Electroretinogram (ERG)  Abnormal electroretinogram (ERG) results that can be seen are as follows:  Subnormal: Potential less than 0.08 microvolts; seen in toxic neuropathy  Negative: a preserved a-wave but absent b-wave. [slideshare.net]

Provides thoroughly revised content in every chapter, with extensive updates on new imaging standards and diagnosis and treatment for eye disorders. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Treatment Treatment Options: No effective treatment is available but low vision aids can be helpful in activities of daily living. [disorders.eyes.arizona.edu]

Treatment focuses on individual symptoms when possible. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. [diseaseinfosearch.org]

Prognosis Visual impairment in ADOA is classically irreversible, and spontaneous recovery has been only exceptionally reported. Visual loss is usually mild, but can at times worsen later during lifetime. [orpha.net]

The prognosis is best in the second group where a time limit of about three weeks is available to meet the challenge. [ijo.in]

[…] of retinal ganglion cells and their axons; bilateral subacute optic neuropathy, typically with simultaneous or rapidly sequential central or cecocentral visual loss with eventual ONA; onset of symptoms may be associated with metabolic stressor; poor prognosis [unboundmedicine.com]

CMT in pregnancy increases the risk for complications during delivery and a higher risk of intervention. [ 11 ] Prognosis This is dependent on subtype; clinical impairment and disability correlate with axonal loss: Most patients with CMT1A have normal [patient.info]

Variants exist with only partial features, and prognosis is mainly linked to the severity of the neurological symptoms. [diapedia.org]

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]

(PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58 A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. [genecards.org]

Etiology A majority, but not all ADOA patients harbor mutations in the gene OPA1 (3q29) which codes for an inner mitochondrial membrane protein intricately involved in mitochondrial biogenesis, mitochondrial DNA replication and network stability. [orpha.net]

Etiologic classification Regardless of etiology, optic atrophy is associated with variable degrees of visual dysfunction, which may be detected by one or all of the optic nerve function tests. 1. [slideshare.net]

The Classical subdivision of optic atrophy into "Primary" and "Secondary" categories has no etiologic significance but they merely refer to the appearance of the disc. [ijo.in]

Summary Epidemiology The prevalence of ADOA is variable, commonly varying between 1/10,000 in Denmark (due to a founder effect) to 1/35,000 in the UK. [orpha.net]

Relevant External Links for OPA3 Genetic Association Database (GAD) OPA3 Human Genome Epidemiology (HuGE) Navigator OPA3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: OPA3 No data available for Genatlas for OPA3 Gene Type III 3-methylglutaconic [genecards.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]

However, there is no molecular epidemiological study for DOA in Chinese populations even though there are large case series of such studies for Chinese patients with LHON [ 28 ]. [molvis.org]

Epidemiology Acquired ONA is more common than hereditary and congenital ONA and tends to occur later in life: Glaucoma, ischemic optic neuropathy (older), optic neuritis (younger), compressive (any age), and toxic/nutritional are leading causes in adults [unboundmedicine.com]

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

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]

Wolframin function The pathophysiology of Wolfram syndrome suggests that Wolframin is involved in the survival pathways of neurons and pancreatic beta cells. [diapedia.org]

Traumatic optic neuropathy: The exact pathophysiology of traumatic optic neuropathy is poorly understood, although optic nerve avulsion and transection, optic nerve sheath hematoma, and optic nerve impingement from a penetrating foreign body or bony fragment [slideshare.net]

[…] diabetes mellitus, hypertension, radiation exposure, alcoholism, renal failure, arteriosclerosis, increased ICP, certain medications/toxins, nutritional deficiencies, compressive lesions, infection, trauma, neoplasm, paraneoplastic syndromes General Prevention [unboundmedicine.com]

Mohr-Tranebjaerg syndrome XLR 3 TMEM126A 612988 Optic Atrophy 7 AR 0 WFS1 606201 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome AD, AR 17 To date, there is no preventative [centogene.com]

Daily heel-stretching exercises prevent Achilles tendon shortening. Interventions designed to improve posture and balance may also be helpful. [patient.info]

The authors suggested that WFS1 prevents secretory cells from death caused by dysregulation of this signalling pathway [10]. [diapedia.org]

Extra genetic material from the X chromosome interferes with male sexual development, preventing the testicles from functioning normally, males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two [wikivisually.com]