Using two smartphones to look for corneal cystine crystals

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Cystinosis is a rare, autosomal recessive lysosomal storage disease.
• Infantile nephropathic cystinosis is the most common form, leading to cystine accumulation.
• Early diagnosis is crucial to prevent end-organ damage.

Observation:

• Cystine crystals can deposit in the eye by age one.
• Ophthalmic examination for cystine corneal deposits is a key diagnostic criterion.
• Biochemical and genetic testing can be time-consuming.

Findings:

• A novel technique using two smartphones can facilitate preliminary screening for corneal cystine crystals.
• This method is minimally invasive and uses readily available equipment.
• The technique was demonstrated in a case of a 3-year-old girl with infantile cystinosis.

Implications:

• This technique can aid early detection in diverse settings, especially with limited ophthalmologist access.
• It offers a practical, accessible tool for identifying potential cystinosis cases.
• Facilitates prompt investigation and management of cystinosis, improving patient outcomes.