medwireNews: Sudden severe bilateral vision loss in young children who have recently recovered from a febrile illness may be indicative of a new and “potentially underrecognized” clinical entity, Chinese researchers propose in JAMA Ophthalmology.
Termed hyperacute outer retinal dysfunction (HORD), the eye condition is characterized by diffuse disruptions in the ellipsoid zone (EZ) and external limiting membrane (ELM) seen on optical coherence tomography (OCT), together with “distinct retinal imaging features,” say Xiaoyan Ding (Sun Yat-sen University, Guangzhou) and collaborators.
“Key OCT findings showed initial outer retinal layer loss, with gradual macular recovery, leading to macula-sparing outer layer deficiency in later stages, resembling np-AIR [nonparaneoplastic autoimmune retinopathy],” they observe. The latter is a rare eye condition in children that affects the retinal photoreceptors and can lead to permanent vision loss.
Ding et al note, however, that central vision recovered in most of the eight children they describe as having HORD in their article, with seven attaining 20/40 or better acuity at 1 year and half achieving 20/25 or better acuity.
The team reviewed medical records for six boys and two girls whose mean age was 5.1 years and ranged from 3–7 years. All of the children had sudden vision loss a mean of 16.1 days after the onset of a moderate-to-high fever linked to symptoms of a common cold. None of the children had any signs of ocular disease prior to their presentation, which was noted due to their acute inability to navigate stairs, read, grasp objects, or walk without falling while outside. Additional symptoms included visual field loss, night blindness, and color vision anomalies.
Despite all children undergoing workup for systemic infection, inflammation, and autoimmune disease, no specific cause was identified.
Because the children had been referred to their specialist pediatric retinal service with similar symptoms, the team looked for shared findings on their ophthalmic assessments including fundus photography, ultra-widefield photography, OCT, fluorescence angiography, fundus autofluorescence, Humphrey perimetry, and flash electroretinography (ERG).
“Baseline visual acuity was predominantly below counting fingers,” says the team. In the early stages of presentation, nine eyes of five children had deteriorated to hand motion, with another seven eyes of four children deteriorating to only light perception. Intraocular pressure, however, was found to be within a normal range of between 10 and 16 mmHg.
Imaging showed mild retinal pigment epithelium changes in 50% of eight eyes tested using fluorescence angiography. Mottled hyperautofluorescence was seen in 30% of 10 eyes, and a hyperautofluorescent macular ring in 20%.
At 1 year follow-up, the macular EZ appeared intact in 12 (75%) eyes and the ELM appeared intact in 14 (88%) eyes, the researchers report. Extrafoveal regions “remained absent of EZ and ELM” on OCT, and there were extinguished cone and rod responses in all eight children on ERG, with multifocal ERG remaining extinguished despite the recovery of visual acuity.
Timothy Boyce and Ian Han, both from the University of Iowa in Iowa City, USA, comment on the novel findings in a related article.
“We have much to learn about the underlying pathophysiology of HORD, as well as key diagnostic features or optimal treatments,” Boyce and Han write.
Commending the researchers “for their extensive characterization and workup of these young patients,” they note that the children had received “aggressive therapy with oral or intravenous corticosteroids and intravenous immunoglobulin” but did not receive systematic antiviral treatment.
Without a control group or knowing what the natural history of HORD might be without treatment “the positive impact of these interventions remain putative,” they suggest.
Boyce and Han conclude: “Should more cases of HORD arise, further immune characterization may provide crucial insights into the pathogenesis and help identify therapeutic targets, especially those that may douse the initial inflammation preceding photoreceptor destruction in order to preserve sight.”
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JAMA Ophthalmol 2025; doi:10.1001/jamaophthalmol.2024.6372
JAMA Ophthalmol 2025; doi:10.1001/jamaophthalmol.2024.6488