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.
Identify all potential conflicts of interest that might be relevant to your comment.
Conflicts of interest comprise financial interests, activities, and relationships within the past 3 years including but not limited to employment, affiliation, grants or funding, consultancies, honoraria or payment, speaker's bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued.
Err on the side of full disclosure.
If you have no conflicts of interest, check "No potential conflicts of interest" in the box below. The information will be posted with your response.
Not all submitted comments are published. Please see our commenting policy for details.
Seo Y, Kim SS, Han J. Short Stature With Optic Atrophy and Cone Dystrophy. JAMA Ophthalmol. Published online June 10, 2021. doi:10.1001/jamaophthalmol.2020.5777
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: