A randomised placebo-controlled trial of topical cysteamine therapy in patients with nephropathic cystinosis

Bradbury, John; Danjoux, Jean-Pierre; Voller, J.; Spencer, Michael P.; Brocklebank, Trevor

doi:10.1038/eye.1991.139

Cited by 32 publications

(24 citation statements)

References 6 publications

(7 reference statements)

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“…17 In several single-center and one multicenter trial, topical cysteamine treatment has proven safe and efficient in dissolving corneal crystals in both young and old cystinosis patients; it also significantly alleviates the symptoms of photophobia, blepharospasm and eye pain. 8,10,48,49,51,53,54,59,60,73,93 The recommended regimen is a 0.55% (50 mM) cysteamine hydrochloride solution with benzalkonium chloride 0.01% as a preservative, used 10-12 times per day. 60 It is important to note that, at room temperature, the active free thiol, cysteamine, oxidizes to the disulfide form, cystamine, requiring shipping and storage of the topical solution in the frozen state.…”

Section: Treatmentmentioning

confidence: 99%

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Tsilou¹,

Zhou²,

Gahl³

et al. 2007

Survey of Ophthalmology

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Cystinosis is a rare autosomal recessive metabolic disorder characterized by the intracellular accumulation of cystine, the disulfide of the amino acid cysteine, in many organs and tissues. Infantile nephropathic cystinosis is the most severe phenotype. Corneal crystal accumulation and pigmentary retinopathy were originally the most commonly described ophthalmic manifestations, but successful kidney transplantation significantly changed the natural history of the disease. As cystinosis patients now live longer, long-term complications in extrarenal tissues including the eye, have become apparent. A case of an adult patient with infantile nephropathic cystinosis is reported. He presented with many long-term ocular complications of cystinosis. After 4 years of follow-up, the patient died from sepsis. Pathology of the phthisical eyes demonstrated numerous electron transparent polygonal spaces, bounded by single membrane, in corneal cells, retinal pigment epithelial cells, and even choroidal endothelial cells. The ophthalmic manifestations and pathology of infantile nephropathic cystinosis are discussed and reviewed in light of the current report and other cases in the literature.

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Section: Treatmentmentioning

confidence: 99%

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Tsilou¹,

Zhou²,

Gahl³

et al. 2007

Survey of Ophthalmology

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“…Lack of compliance with cysteamine therapy may have been a major cause of these problems. Cysteamine enhances growth, depletes cystine in muscle and other tissues [15], and ophthalmic treatment decreases photophobia and prevents corneal ulceration [16]. It is therefore important to re-institute cysteamine therapy as soon as possible after kidney transplantation.…”

Section: Discussionmentioning

confidence: 99%

Effects of pre- and postnatal cysteamine exposure on renal function in the rat

Assadi

McCue

Jefferis

et al. 1999

Pediatric Nephrology

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The safety of cysteamine after renal transplantation and during pregnancy is an important issue, since girls with cystinosis are in better health on cysteamine therapy and thus more likely to become pregnant. In the first study, cysteamine was given to pregnant rats on days 6.5-18.5 post conception in oral doses of 0, 37.5, 75, 100, and 150 mg/kg per day. The dams were sacrificed on day 20.5, the fetal kidneys removed and prepared for histological examination. In the second study, cysteamine was given to dams on days 6.5-19.5 post conception in oral doses of 0, 37.5, 50, and 75 mg/kg per day. Dams were allowed to give birth naturally and pups were given cysteamine on days 4-21 to yield the same oral doses of cysteamine given to the dam. Renal function was evaluated on day 35. Histological examination of fetal kidneys revealed no changes even in kidneys from fetuses with growth retardation and malformations. Furthermore, there were no alterations in renal function in offspring on day 35. These findings demonstrate that cysteamine therapy does not affect renal development in the rat. Further investigations will be required to prove whether cysteamine therapy has the potential to affect renal development in the human.

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“…Precise location and depth of crystals within corneal layers can only be evaluated by IVCM and AS-OCT. However, in most of clinical studies investigating the effects of topical cysteamine hydrochlorid (CH), crystal density was evaluated according to slit-lamp photography [8,14,[26][27][28][29]. No study is currently available about life-long effects of topical CH drops on exact arrangement of deposits and about its impact on agedependent changes.…”

Section: Discussionmentioning

confidence: 99%

Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study

et al. 2020

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Background: Presence of corneal cystine crystals is the main ocular manifestation of cystinosis, although controversial findings concerning the corneal layer with the highest density have been reported. The aim of this study was the analysis of the characteristics of crystal arrangement in different corneal layers and the assessment of corneal morphological changes with age. Methods: A cross sectional study was carried out in three children and three adults who had nephropathic cystinosis and corneal cystine depositions. All patients underwent a comprehensive ophthalmological examination including best corrected distance visual acuity, slit-lamp examination, in vivo confocal microscopy and anterior segment optical coherence tomography. An evaluation of the depth of crystal deposits and crystal density in different corneal layers was also performed. Due to the low number of subjects no statistical comparison was performed. Results: Anterior segment optical coherence tomography images revealed deposition of hyperreflective crystals from limbus to limbus in each patient. Crystals appeared as randomly oriented hyperreflective, elongated structures on in vivo confocal microscopy images in all corneal layers except the endothelium. In children the deposits occurred predominantly in the anterior stroma, while in adults, the crystals were mostly localized in the posterior corneal stroma with the depth of crystal deposition showing an increasing tendency with age (mean depth of crystal density was 353.17 ± 49.23 μm in children and it was 555.75 ± 25.27 μm in adults). Mean crystal density of the epithelium was 1.47 ± 1.17 (median: 1.5; interquartile range: 0.3-2.4). Mean crystal density of the anterior and posterior stroma of children and adults was 3.37 ± 0.34 (median: 3.4; interquartile range: 3.25-3.55) vs. 1.23 ± 0.23 (median: 1.2; interquartile range: 1.05-1.35) and 0.76 ± 0.49 (median: 0.7; interquartile range: 0.4-1.15) vs. 3.63 ± 0.29 (median: 3.7; interquartile range: 3.45-3.8), respectively. Endothelium had intact structure in all cases. Some hexagonal crystals were observed in two subjects. Conclusions: In vivo confocal microscopy and anterior segment optical coherence tomography confirmed an agerelated pattern of crystal deposition. In children, crystals tend to locate anteriorly, while in adults, deposits are found posteriorly in corneal stroma.

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A randomised placebo-controlled trial of topical cysteamine therapy in patients with nephropathic cystinosis

Cited by 32 publications

References 6 publications

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Effects of pre- and postnatal cysteamine exposure on renal function in the rat

Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study

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