ArticleOrphanet journal of rare diseases2025
Neuroretinal structure changes in infantile nephropathic cystinosis.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe aim of this study was to investigate the neuroretinal structure of patients with the lysosomal storage disease cystinosis.
methodsIn this retrospective cross-sectional analysis, optical coherence tomography (OCT) was used to measure the peripapillary retinal nerve fiber layer (pRNFL), the optic disc volumes, the prelaminar depth and the macular ganglion cell layer volumes (mGCL) in patients with genetically confirmed infantile nephropathic cystinosis. The same measurements were repeated in an age -and spherical equivalent (SE) matched, healthy control group.
resultsThe cystinosis group included 40 patients (40 eyes) with a mean age of 20.6 ± 8.6 years and a SE of 0.47 ± 1.85. The healthy control group consisted of 30 patients (30 eyes) with a mean age of 20.7 ± 12.5 years and a SE of 0.47 ± 1.29. A pronounced deposition of crystals in the optic disc was observed in all cystinosis cases. Cystine crystals follow the nerve fibers in a dense, pearl-string pattern. A significantly thicker pRNFL and a higher rate of positive prelaminar depth was evident in the cystinosis group (839.7 ± 151.0 μm vs. 775.7 ± 79.6 μm, p = 0.004). A significantly smaller mGCL volume was found in the cystinosis group as compared to normal controls (0.25 ± 0.03 mm³ vs. 0.35 ± 0.03 mm³, p = 0.036).
conclusionsCystinosis leads to pronounced crystal accumulation in the optic disc in early stages of the disease. This accumulation occurs in concomitance with the well-described cystine crystal deposits in the cornea, which have previously been considered the foremost ocular sign of cystinosis. The pearl-string appearance of crystal deposition suggests a primarily glial localization. A significantly thicker pRNFL and a higher rate of positive prelaminar depth was observed in the OCT scans of cystinosis patients, explaining the clinical impression of a crowded optic disc. Additionally, retinal neurodegeneration was significant in patients with cystinosis if compared to healthy controls. The optic disc crowding may result from the dense deposition of cystine crystals in the optic nerve head and the GCL thinning could be due to metabolically induced ganglion cell atrophy. However, the exact reason for these changes remains to be elucidated.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.