A Middle-aged Woman With Vision Loss and Cecocentral Scotoma | Ophthalmology | JN Learning | AMA Ed Hub [Skip to Content]
[Skip to Content Landing]

A Middle-aged Woman With Vision Loss and Cecocentral Scotoma

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A woman in her early 50s was referred for decreased vision. Symptom onset was approximately 3 months prior to presentation when the patient began reporting difficulty reading. She was initially evaluated by her local eye care professional and noted to have visual acuity of 20/100 OD and 20/25 OS with cecocentral visual field defect in the right eye. Results of ophthalmoscopic examination of the optic nerves at this time revealed mild elevation of the optic nerves. Magnetic resonance imaging findings of the orbits were normal.

Please finish quiz first before checking answer.

You answered correctly!

Read the answer below and download your certificate.

You answered incorrectly.

Read the discussion below and retake the quiz.

Leber hereditary optic neuropathy

D. Perform genetic testing for Leber hereditary optic neuropathy

The patient had positive test results for the 11778 mutation confirming Leber hereditary optic neuropathy (LHON), a mitochondrial disease generally presenting in the second to third decades of life with subacute, bilateral, sequential painless vision loss. This patient is slightly atypical in that she is female and was 51 years of age at presentation. Males are 4 to 5 times more likely than females to be affected1 and account for 80% to 90% of cases of LHON.2 Approximately 95% of symptomatic patients experience vision loss before age 50 years, although vision loss has been reported in individuals aged from 2 to 87 years.2 Vision loss with LHON is usually manifested by cecocentral scotoma presenting first in 1 eye, followed by the other eye within 2 to 3 months. Up to 25% of patients will have bilateral symptoms at onset.1 Results of ophthalmoscopic examination at symptom onset may reveal peripapillary telangiectatic vessels or mild thickening of the retinal nerve fiber layer.3 Visual acuity worsens with expansion of the cecocentral scotoma, generally leaving patients at 20/200 acuity or worse before vision loss eventually stabilizes. Optic nerves develop appreciable significant pallor over time.3 Chances of spontaneous partial recovery depends on the genetic mutation, ranging anywhere from 37% to 58% in those with the 14484 mutation to as low as 4% in patients with the 11778 mutation.2

Survey Complete!

Sign in to take quiz and track your certificates

Buy This Activity

JN Learning™ is the home for CME and MOC from the JAMA Network. Search by specialty or US state and earn AMA PRA Category 1 CME Credit™ from articles, audio, Clinical Challenges and more. Learn more about CME/MOC

Article Information

Corresponding Author: John J. Chen, MD, PhD, Department of Ophthalmology, Mayo Clinic, 200 First St SW, Rochester, MN 55905 (chen.john@mayo.edu).

Published Online: June 28, 2018. doi:10.1001/jamaophthalmol.2018.0077

Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.

Funding/Support: This work was supported in part by an unrestricted grant to the Department of Ophthalmology by Research to Prevent Blindness.

Role of the Funder/Sponsor: The funding source had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
1.
Yu-Wai-Man  P, Chinnery  PF. Leber hereditary optic neuropathy. In: Pagon  RA, Adam  MP, Ardinger  HH,  et al, eds.  GeneReviews. Seattle: University of Washington; 1993.
2.
Meyerson  C, Van Stavern  G, McClelland  C.  Leber hereditary optic neuropathy: current perspectives.  Clin Ophthalmol. 2015;9:1165-1176.PubMedGoogle Scholar
3.
Behbehani  R.  Clinical approach to optic neuropathies.  Clin Ophthalmol. 2007;1(3):233-246.PubMedGoogle Scholar
4.
Carelli  V, La Morgia  C, Valentino  ML,  et al.  Idebenone treatment in Leber’s hereditary optic neuropathy.  Brain. 2011;134(pt 9):e188.PubMedGoogle ScholarCrossref
5.
Klopstock  T, Yu-Wai-Man  P, Dimitriadis  K,  et al.  A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy.  Brain. 2011;134(pt 9):2677-2686.PubMedGoogle ScholarCrossref
6.
Giordano  L, Deceglie  S, d’Adamo  P,  et al.  Cigarette toxicity triggers Leber’s hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways.  Cell Death Dis. 2015;6:e2021.PubMedGoogle ScholarCrossref
7.
Feuer  WJ, Schiffman  JC, Davis  JL,  et al.  Gene therapy for Leber hereditary optic neuropathy: initial results.  Ophthalmology. 2016;123(3):558-570.PubMedGoogle ScholarCrossref
8.
Sengillo  JD, Justus  S, Tsai  YT, Cabral  T, Tsang  SH.  Gene and cell-based therapies for inherited retinal disorders: An update.  Am J Med Genet C Semin Med Genet. 2016;172(4):349-366.PubMedGoogle ScholarCrossref
If you are not a JN Learning subscriber, you can either:
Subscribe to JN Learning for one year
Buy this activity
jn-learning_Modal_LoginSubscribe_Purchase
Close
If you are not a JN Learning subscriber, you can either:
Subscribe to JN Learning for one year
Buy this activity
jn-learning_Modal_LoginSubscribe_Purchase
Close
With a personal account, you can:
  • Access free activities and track your credits
  • Personalize content alerts
  • Customize your interests
  • Fully personalize your learning experience
Education Center Collection Sign In Modal Right
Close

Name Your Search

Save Search
Close
With a personal account, you can:
  • Track your credits
  • Personalize content alerts
  • Customize your interests
  • Fully personalize your learning experience
jn-learning_Modal_SaveSearch_NoAccess_Purchase
Close

Lookup An Activity

or

Close

My Saved Searches

You currently have no searches saved.

Close
With a personal account, you can:
  • Access free activities and track your credits
  • Personalize content alerts
  • Customize your interests
  • Fully personalize your learning experience
Education Center Collection Sign In Modal Right
Close