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Monocular Visual Deprivation and Ocular Dominance Plasticity Measurement in the Mouse Primary Visual Cortex

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The Ocular Phenotype in Primary Hyperoxaluria Type 1.

Johannes Birtel¹, Philipp Herrmann¹, Sander F Garrelfs²

¹Department of Ophthalmology, University of Bonn, Bonn, Germany; Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany.

American Journal of Ophthalmology

|May 13, 2019

Summary

This summary is machine-generated.

Primary hyperoxaluria type 1 (PH1) causes severe eye problems in infants, including retinal deposits and vision loss. Non-infantile PH1 patients typically have mild or no ocular issues, preserving good vision.

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Area of Science:

Ophthalmology
Genetics
Nephrology

Background:

Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder.
It leads to oxalate deposition in various organs, including the kidneys and eyes.
Understanding ocular manifestations is crucial for managing PH1.

Purpose of the Study:

To investigate ophthalmic features in patients with PH1.
To correlate ocular involvement with the severity of systemic disease.

Main Methods:

Retrospective, cross-sectional, multicenter study.
Included 68 patients with PH1 (12 infantile, 56 non-infantile).
Ophthalmic exams included visual acuity and multimodal retinal imaging (fundus photography, OCT, autofluorescence).

Main Results:

Infantile PH1 patients (n=24 eyes) showed severe retinal alterations, oxalate deposits, macular crystals, and subretinal fibrosis, impacting visual acuity in 38%.
Non-infantile PH1 patients (n=112 eyes) had normal visual acuity; only 11% with end-stage renal disease showed mild retinal features.
Deposits appeared as subretinal lesions on OCT and were hyperautofluorescent.

Conclusions:

Severe ocular alterations are characteristic of infantile PH1.
Non-infantile PH1 typically presents with mild or no ocular involvement.
Further research is needed on the natural history of oxalate deposits and factors influencing ocular disease severity.