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Updated: May 10, 2026
Corneal Confocal Microscopy: A Novel Non-invasive Technique to Quantify Small Fibre Pathology in Peripheral Neuropathies
Published on: January 3, 2011
[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood]
1Augenklinik und Poliklinik, Universitätsmedizin der Johannes Gutenberg Universität Mainz. augenklinik-hanau.de
Insights
Early diagnosis of corneal opacities in childhood can identify lysosomal storage disorders. Modern therapies, including enzyme replacement and diet, offer improved outcomes for these rare genetic conditions.
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Context:
- Lysosomal storage disorders (LSDs) often manifest with corneal opacities in childhood.
- The lysosome, a cellular organelle containing hydrolytic enzymes, plays a crucial role in molecular breakdown.
- Ophthalmological examination, particularly slit-lamp examination, is vital for diagnosing specific LSDs.
Purpose:
- To highlight the significance of corneal landmarks in diagnosing systemic lysosomal storage disorders.
- To present modern systemic therapies for various LSDs with ocular manifestations.
- To emphasize the importance of early diagnosis for effective treatment and improved patient prognosis.
Summary:
- Corneal opacities, such as cornea verticillata in Fabry's disease and Kayser-Fleischer's rings in Wilson's disease, serve as key diagnostic indicators for LSDs.
- Specific treatments discussed include enzyme replacement therapy (e.g., alpha-galactosidase a for Fabry's disease, recombinant enzymes for LCAT-deficiency, enzyme replacement for MPS I, II, VI), dietary modifications (low copper for Wilson's disease, low phenylalanine/tyrosine for tyrosinemia type II), and transplantation (renal, hematopoietic stem cell).
- Emerging therapies like Raptor RP 103 (DR cysteamine) for cystinosis aim to reduce cytotoxicity by facilitating cystine dissolution from lysosomes.
Impact:
- Early and accurate diagnosis of LSDs through ophthalmological findings enables timely initiation of targeted therapies.
- Modern therapeutic advancements, including enzyme replacement and dietary interventions, significantly broaden treatment options and improve patient quality of life.
- Effective management can lead to the resolution of corneal alterations and prevent long-term complications, allowing patients to lead near-normal lives for decades.
Abstract:
Many systemic lysosomal storage disorders show basic corneal opacities already in childhood. The lysosome is a cell organelle, produced by Golgi's apparatus, that is surrounded by a membrane and contains hydrolytic enzymes that break down food molecules, especially proteins and other complex molecules. The ophthalmologist's precise diagnosis of corneal clouding at the slit-lamp may reveal the correct interpretation of the specific lysosomal storage disorder. It is very important to diagnose such diseases as soon as possible because today the development of systemic enzymatic therapies has broadened the therapeutic armamentarium for the current standard of care. The following corneal landmarks of systemic storage diseases and of the modern systemic therapy are presented: cornea verticillata in Fabry's disease, periodic infusion of alpha-galactosidase a; Kayser-Fleischer's ring in Wilson's disease, zinc, trienetin, low copper diet; multiple, punctiform crystals in cystinosis, cysteamine, Raptor RP 103(DR cysteamine) that reduces the cytotoxity in form of continous dissolving of cystine from lysosome, renal transplantation, haematopoietic stem cell transplantation; peripheral ring, but not true lipid arc, and moderate stromal haze in LCAT-deficiency, injection of recombinant enzyme or of encapsulated LCAT-secreting cells; diffuse stromal haze in mucopolysaccharidoses (MPS). Enzyme replacement therapy is currently indicated for MPS I, MPS II, and MPS VI, haematopoietic stem cell transplantation; painful, bilateral pseudo-dendritic opacities in tyrosinemia type II (eponym: Richner-Hanhart syndrome), low phenylalanine and tyrosine diet result in complete disappearance of corneal alterations with a consecutive painfree period. Strict diet during the whole life is necessary to prevent corneal recurrences and the occurrence of palmo-plantar keratoses. Such therapies can enable the patient to lead an otherwise normal life for decades.
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