PERSISTENT DIFFUSE PHOTORECEPTOR DISORGANIZATION

To characterize persistent diffuse photoreceptor disorganization, a newly recognized retinal disorder, and establish diagnostic criteria differentiating it from similar outer retinopathies.

This retrospective observational case series included 14 patients (21 eyes) with subacute vision loss, unremarkable fundus, and persistent diffuse photoreceptor disorganization on optical coherence tomography, from 2020 to 2025. Medical records, multimodal imaging (optical coherence tomography, fundus autofluorescence, fluorescein angiography, indocyanine green angiography), and visual function (electroretinography, visual field) findings were analyzed.

Patients (mean age 30.7 years) presented with subacute vision loss [mean best-corrected visual acuity 0.9 LogMAR (20/160), range, 2.0-0.2 (FC-20/32)]. Seven patients (50%) had bilateral involvement. Infectious uveitis and known retinal dystrophy mutations (via whole-exome sequencing) were excluded. Fundus, fundus autofluorescence, and indocyanine green angiography were largely unremarkable. Optical coherence tomography revealed blurred/rough ellipsoid zone and absent interdigitation zone in the posterior pole of all eyes (including fovea in 100% of eyes, periphery in 95.2%). The retinal pigment epithelium layer was preserved. Outer retina thickness was significantly thinner in involved eyes compared with fellow eyes (118.3 vs. 147.6 µ m, P = 0.031). Fundus angiography showed peripheral venous leakage in 75% of eyes. Full-field electroretinography indicated reduced amplitudes (normal latency, scotopic/photopic), and visual fields showed significant defects. Eleven patients received immunosuppressive therapies. Over 17 months, optical coherence tomography abnormalities persisted, outer retina thickness slowly decreased, and visual acuity remained stable with gradual deteriorations in some patients.

Persistent diffuse photoreceptor disorganization is characterized by subacute, diffuse, and persistent photoreceptor disorganization with largely unremarkable fundus, distinct from other outer retinopathies. Visual prognosis is generally poor, necessitating further research into pathogenesis and treatment.