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New research · Ophthalmology
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 4d
Cohort studyGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026

Persistent diffuse photoreceptor disorganization: further evidence with potential associations, long-term clinical course and therapeutic responsiveness of a new clinical entity.

Anton Sonntag, Theresia Zuleger, Susanne Kohl … Laura Kühlewein
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OphthalmologyCohort study

Most eyes with persistent diffuse photoreceptor disorganization ended with poor vision.

Persistent diffuse photoreceptor disorganization: further evidence with potential associations, long-term clinical course and therapeutic responsiveness of a new clinical entity.

Anton Sonntag … Laura Kühlewein
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
Background

Recently, a novel clinical picture associated with characteristic, progressive alterations in the ellipsoid zone (ellipsoid zone) and thinning of the outer retinal layers referred to as Persistent Diffuse Photoreceptor Disorganization (Persistent Diffuse Photoreceptor Disorganization) was first described.

Methods

We performed detailed longitudinal clinical assessments in five patients with Persistent Diffuse Photoreceptor Disorganization, i.e. ophthalmological examinations, including imaging (optical coherence tomography (optical coherence tomography), fundus autofluorescence, dye angiography) and functional diagnostics (best-corrected visual acuity (BCVA), visual field, electroretinography), comparative genomic sequencing analysis and further examinations.

n = 10 eyes
9/10 eyes
Results
9/10 eyes
vision stayed poor in almost all affected eyes at last check
n = 10 eyes
More results

The patients (3 female, 2 male) were between 21 and 60 years old.

All developed bilateral involvement sequentially, with the interval between symptom onset in the first and second eye ranging from 8.2 months to 139.5 months.

More results

All patients showed characteristic blurred ellipsoid zone and absent interdigitation zone followed by thinning of the outer retinal layers.

We saw no clear response to steroid treatment.

“
Conclusion · 1 of 3

We add further evidence and additional clinical data to the newly recognized disease Persistent Diffuse Photoreceptor Disorganization.

Conclusion · 2 of 3

In our cohort, Persistent Diffuse Photoreceptor Disorganization presents with subacute, bilateral but sequential vision loss, accompanied by positive visual symptoms (e.g.

Conclusion · 3 of 3

crossfade) and characteristic optical coherence tomography changes, including progressive blurring of the ellipsoid zone beginning in the foveola, followed by outer retinal thinning starting in the parafovea.

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