Article Text
Statistics from Altmetric.com
Cystinosis is an autosomal recessive inherited disorder of amino acid metabolism characterised by the deposition of cystine crystals in the eye, kidney, reticuloendothelial system, and various other tissues.1 Childhood or nephropathic cystinosis can present as an infantile or a juvenile variant.1 The infantile variant tends to have a more devastating course and is associated with growth retardation, rickets, and eventual renal failure which requires transplantation within the first decade.1 The juvenile variant has later onset and milder nephropathy.1
In nephropathic cystinosis, crystal deposits usually appear in the peripheral, anterior cornea within the first year of life and progress centrally and posteriorly until the entire cornea is involved.2–7 The diagnosis can be confirmed histopathologically by demonstration of characteristic crystals by electron microscopy in a conjunctival biopsy.8,9 Stromal deposition of crystal deposits has been demonstrated by …
Footnotes
-
Competing interests: none declared
Linked Articles
- Correction