U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Optic atrophy 13 with retinal and foveal abnormalities(OPA13)

MedGen UID:
1768962
Concept ID:
C5435585
Disease or Syndrome
Synonym: Optic atrophy with negative electroretinograms
 
Gene (location): SSBP1 (7q34)
 
Monarch Initiative: MONDO:0008135
OMIM®: 165510

Definition

Optic atrophy-13 with retinal and foveal abnormalities (OPA13) is an autosomal dominant disorder characterized by decreased visual acuity due to bilateral optic atrophy. Difficulties with color vision may also be apparent. The age at onset varies widely: most patients have onset in the first decade, but later onset even into adulthood has been reported. In addition to optic atrophy, most patients develop retinal pigmentary involvement and abnormal appearance of the fovea. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure. The disorder is associated with variable signs of mitochondrial dysfunction, including altered morphology, mtDNA depletion, and defective mtDNA replication (summary by Del Dotto et al., 2020, Piro-Megy et al., 2020). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

Clinical features

From HPO
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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Abnormal electroretinogram
MedGen UID:
96908
Concept ID:
C0476397
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding

Recent clinical studies

Etiology

Ziccardi L, Parisi V, Giannini D, Sadun F, De Negri AM, Barboni P, La Morgia C, Sadun AA, Carelli V
Graefes Arch Clin Exp Ophthalmol 2015 Sep;253(9):1591-600. Epub 2015 Mar 17 doi: 10.1007/s00417-015-2979-1. PMID: 25773998

Diagnosis

Chang YH, Kang EY, Liu L, Jenny LA, Khang R, Seo GH, Lee H, Chen KJ, Wu WC, Hsiao MC, Wang NK
Orphanet J Rare Dis 2023 May 31;18(1):131. doi: 10.1186/s13023-023-02748-9. PMID: 37259171Free PMC Article
Ziccardi L, Parisi V, Giannini D, Sadun F, De Negri AM, Barboni P, La Morgia C, Sadun AA, Carelli V
Graefes Arch Clin Exp Ophthalmol 2015 Sep;253(9):1591-600. Epub 2015 Mar 17 doi: 10.1007/s00417-015-2979-1. PMID: 25773998

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...