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Short Stature With Optic Atrophy and Cone Dystrophy

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

A 26-year-old man presented with reduced visual acuity in both eyes since early childhood. He had short stature (1.52 m [−3.6 SD]) and progeroid appearance. His parents and brother had normal stature. His medical history was significant for frequent upper respiratory tract infections since infancy. He had no intellectual disability, neurologic symptoms, or hearing impairment. There was no family history of visual impairment or neurologic disorders. His best-corrected visual acuity was 20/80 OD and 20/50 OS. Intraocular pressure was normal. He could not identify any Ishihara color plate. Slitlamp examination was unremarkable. Dilated fundus examination results showed diffuse optic atrophy (OA) and fine pigmentary mottling changes at the fovea in both eyes (Figure 1A). Electroretinography (ERG) showed normal dark-adapted responses and severely reduced light-adapted responses. Optical coherence tomography showed thinning of retinal nerve fiber layers and disruption of outer nuclear layers and the ellipsoid zone at the center of the fovea (Figure 1B). Leber hereditary optic neuropathy sequencing was negative for 3 hot spot mutations.

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A 26-year-old man presented with reduced visual acuity in both eyes since early childhood. He had short stature (1.52 m [−3.6 SD]) and progeroid appearance. His parents and brother had normal stature. His medical history was significant for frequent upper respiratory tract infections since infancy. He had no intellectual disability, neurologic symptoms, or hearing impairment. There was no family history of visual impairment or neurologic disorders. His best-corrected visual acuity was 20/80 OD and 20/50 OS. Intraocular pressure was normal. He could not identify any Ishihara color plate. Slitlamp examination was unremarkable. Dilated fundus examination results showed diffuse optic atrophy (OA) and fine pigmentary mottling changes at the fovea in both eyes (Figure 1A). Electroretinography (ERG) showed normal dark-adapted responses and severely reduced light-adapted responses. Optical coherence tomography showed thinning of retinal nerve fiber layers and disruption of outer nuclear layers and the ellipsoid zone at the center of the fovea (Figure 1B). Leber hereditary optic neuropathy sequencing was negative for 3 hot spot mutations.

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Article Information

Corresponding Author: Jinu Han, MD, Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Eonjuro 211, Gangnam-gu, Seoul 06273, South Korea (jinuhan@yuhs.ac).

Published Online: June 10, 2021. doi:10.1001/jamaophthalmol.2020.5777

Conflict of Interest Disclosures: None reported.

Funding/Support: This work was supported by grant 2020R1C1C1007965 from the National Research Foundation of Korea, which is funded by the Korea government (Dr Han).

Role of the Funder/Sponsor: The funders 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.

AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 credit toward the CME of the American Board of Surgery’s Continuous Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

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