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Optic atrophy 3(OPA3)

MedGen UID:
371657
Concept ID:
C1833809
Disease or Syndrome
Synonyms: OPA3; OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; Optic atrophy and cataract, autosomal dominant; Optic atrophy, cataract, and neurologic disorder
SNOMED CT: Autosomal dominant optic atrophy and cataract (719517009); Autosomal dominant optic atrophy type 3 (719517009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): OPA3 (19q13.32)
 
Monarch Initiative: MONDO:0008133
OMIM®: 165300
Orphanet: ORPHA67036

Definition

Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.

Several abnormalities contribute to impaired vision in people with autosomal dominant optic atrophy and cataract. In the early stages of the condition, affected individuals experience a progressive loss of certain cells within the retina, which is a specialized light-sensitive tissue that lines the back of the eye. The loss of these cells (known as retinal ganglion cells) is followed by the degeneration (atrophy) of the nerves that relay visual information from the eyes to the brain (optic nerves), which contributes to vision loss. Atrophy of these nerves causes an abnormally pale appearance (pallor) of the optic nerves, which can be seen only during an eye examination. Most people with this disorder also have clouding of the lenses of the eyes (cataracts). This eye abnormality can develop anytime but typically appears in childhood. Other common eye problems in autosomal dominant optic atrophy and cataract include involuntary movements of the eyes (nystagmus), or problems with color vision (color vision deficiency) that make it difficult or impossible to distinguish between shades of blue and green.

Some people with autosomal dominant optic atrophy and cataract develop disturbances in the function of other nerves (neuropathy) besides the optic nerves. These disturbances can lead to problems with balance and coordination (cerebellar ataxia), an unsteady style of walking (gait), prickling or tingling sensations (paresthesias) in the arms and legs, progressive muscle stiffness (spasticity), or rhythmic shaking (tremors). In some cases, affected individuals have hearing loss caused by abnormalities of the inner ear (sensorineural deafness). [from MedlinePlus Genetics]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Abnormality of extrapyramidal motor function
MedGen UID:
115941
Concept ID:
C0234133
Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Scotoma
MedGen UID:
19902
Concept ID:
C0036454
Finding
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOptic atrophy 3
Follow this link to review classifications for Optic atrophy 3 in Orphanet.

Professional guidelines

PubMed

Dalle Carbonare M, Manisali M
Br J Oral Maxillofac Surg 2022 Nov;60(9):1166-1175. Epub 2022 Jun 16 doi: 10.1016/j.bjoms.2022.06.002. PMID: 35817637
Reschke F, Rohayem J, Maffei P, Dassie F, Schwandt A, de Beaufort C, Toni S, Szypowska A, Cardona-Hernandez R, Datz N, Klee K, Danne T
Endocrine 2021 Mar;71(3):626-633. Epub 2021 Feb 1 doi: 10.1007/s12020-021-02622-3. PMID: 33527330
Rothenberg R
J Am Vener Dis Assoc 1976 Dec;3(2 Pt 2):153-8. PMID: 1010782

Recent clinical studies

Etiology

Rafique Ali AA, Ismail F, May May C, Mohd Abdullah AA, Khaliddin N, Hariri F, Abdul Rahman ZA, Iqbal T
Eur J Ophthalmol 2022 May;32(3):1417-1423. Epub 2021 Jul 5 doi: 10.1177/11206721211030093. PMID: 34219491
Akyüz C, Kıratlı H, Şen H, Aydın B, Tarlan B, Varan A
Ophthalmologica 2015;234(4):227-32. Epub 2015 Sep 15 doi: 10.1159/000439357. PMID: 26368674
Richard AI
Nig Q J Hosp Med 2010 Jul-Sep;20(3):125-8. PMID: 21033320
Ho G, Walter JH, Christodoulou J
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S419-23. Epub 2008 Nov 7 doi: 10.1007/s10545-008-0981-z. PMID: 18985435
Rutzen AR, Ellish NJ, Schwab L, Graham PJ, Pizzarello LD, Hemady RK, Maldonado MJ; Cambodia Eye Survey Group
Ophthalmic Epidemiol 2007 Nov-Dec;14(6):360-6. doi: 10.1080/01658100701436033. PMID: 18161609

Diagnosis

Rafique Ali AA, Ismail F, May May C, Mohd Abdullah AA, Khaliddin N, Hariri F, Abdul Rahman ZA, Iqbal T
Eur J Ophthalmol 2022 May;32(3):1417-1423. Epub 2021 Jul 5 doi: 10.1177/11206721211030093. PMID: 34219491
Akyüz C, Kıratlı H, Şen H, Aydın B, Tarlan B, Varan A
Ophthalmologica 2015;234(4):227-32. Epub 2015 Sep 15 doi: 10.1159/000439357. PMID: 26368674
Babalola OE
Afr J Med Med Sci 2011 Dec;40(4):309-19. PMID: 22783680
Richard AI
Nig Q J Hosp Med 2010 Jul-Sep;20(3):125-8. PMID: 21033320
Adegbehingbe BO, Majengbasan TO
Aust J Rural Health 2007 Aug;15(4):269-72. doi: 10.1111/j.1440-1584.2007.00906.x. PMID: 17617092

Therapy

Akyüz C, Kıratlı H, Şen H, Aydın B, Tarlan B, Varan A
Ophthalmologica 2015;234(4):227-32. Epub 2015 Sep 15 doi: 10.1159/000439357. PMID: 26368674
Vijaya L, George R, Arvind H, Baskaran M, Raju P, Ramesh SV, Paul PG, Kumaramanickavel G, McCarty C
Br J Ophthalmol 2006 Apr;90(4):407-10. doi: 10.1136/bjo.2005.081406. PMID: 16547314Free PMC Article
Yalvac IS, Sungur G, Turhan E, Eksioglu U, Duman S
J Glaucoma 2004 Dec;13(6):450-3. doi: 10.1097/01.ijg.0000146624.31345.33. PMID: 15534468

Prognosis

Liu M, Du Q, Mao G, Dai N, Zhang F
Bioengineered 2022 Mar;13(3):5344-5356. doi: 10.1080/21655979.2021.2017630. PMID: 35176941Free PMC Article
Akyüz C, Kıratlı H, Şen H, Aydın B, Tarlan B, Varan A
Ophthalmologica 2015;234(4):227-32. Epub 2015 Sep 15 doi: 10.1159/000439357. PMID: 26368674

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