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JAMA Ophthalmology Clinical Challenge
June 10, 2021

Short Stature With Optic Atrophy and Cone Dystrophy

Author Affiliations
  • 1Institute of Vision Research, Department of Ophthalmology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, South Korea
  • 2Institute of Vision Research, Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea
  • 3Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea
JAMA Ophthalmol. Published online June 10, 2021. doi:10.1001/jamaophthalmol.2020.5777

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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