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Ocular changes in nephropathic cystinosis: The course of the gold-dust

Abstract

Purpose

Cystinosis is an autosomal recessive inherited lysosomal storage disease with an incidence of 1:100.000 up to 1:200.000 caused by a gene mutation of a lysosomal transport protein resulting in deposition of cystine in lysosomes in all cells and tissues. In the cornea, crystalline, gold-dust deposition of cystine leads to visual impairment, recurrent erosions, photophobia, epiphora and blepharospasmus. Standard therapy is topical and systemic application of cysteamine which may resolve the accumulated cystine crystals.

Patient and methods

This is a case report of a thirty-one-year-old patient who already underwent renal transplantation because of nephropathic cystinosis. Visual impairment by cystine crystal deposition was aggravated by a central avascular pannus formation in his right eye. Penetrating keratoplasty was performed in intention to improve the patient’s visual acuity and life quality.

Results

After penetrating keratoplasty in the right eye, there was only a slight visual improvement. OCT scans of the macula revealed intraretinal cystine crystals and a cystoid macular edema, which was treated with a bevacizumab injection. Transmission electron microscopy of the excised cornea revealed spiky intracorneal inclusions and confocal in vivo microscopy of the left eye allowed detailed visualization of the cystine crystal deposition.

Conclusions

There is a variability of ocular manifestations of nephropathic cystinosis. Ophthalmologists have a central role in the early diagnosis of cystinosis as mostly the first manifestation are cystine crystals in the cornea. Penetrating keratoplasty may be one of the therapeutical options. Nevertheless, the patient has to be informed about the limited prognosis because of the persisting underlying disease.

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Authors

Corresponding author

Correspondence to Elias Flockerzi.

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Conflict of interest

Elias Flockerzi has received a travel grant from Orphan Europe Germany GmbH to present the corneal slit lamp findings of the patient described in this manuscript at the second Ophthalmology Cystinosis Forum (OCF II) Conference in Berlin, Germany, June 30, 2017 and a travel grant from Orphan Europe Germany GmbH to attend the third Ophthalmology Cystinosis Forum (OCF III) Conference in London, United Kingdom, June 15, 2018. The other authors declare that there is no conflict of interest.

Ethical approval

The local ethics committee of Saarland (Ethikkommission bei der Ärztekammer des Saarlandes) was informed. Because this article does not contain any studies with human participants or animals performed by any of the authors as it describes the required ophthalmological treatment of one nephropathic cystinosis patient, the ethics committee of Saarland approved the publication of this article.

Informed consent

Informed consent to publish this case study was obtained from the patient.

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Flockerzi, E., Daas, L., Schlötzer-Schrehardt, U. et al. Ocular changes in nephropathic cystinosis: The course of the gold-dust. Int Ophthalmol 39, 1413–1418 (2019). https://doi.org/10.1007/s10792-018-0954-7

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Keywords

  • Nephropathic cystinosis
  • Cystinosis
  • Cystine crystals
  • Cornea
  • Keratoplasty