Ocular cystinosis (OC) is an uncommon recessive genetic disease occurring in about one case per 100–200,000 live births. Patients have accumulation of cystine crystals within tissues. Ocular symptoms include photophobia, blepharospasm, foreign body sensation, retinopathy and visual impairment. Crystals have been recorded within cornea, iris, conjunctiva, ciliary body, lens, neuroretinal layers and the choroid. The authors investigate treatment adherence to cysteamine eye drops and impact to clinical outcomes. This was a retrospective review of 14 patients; mean age of 13 years with seven boys and seven girls. All were Caucasian and five were Old Order Amish (all consanguineous parents). Nine had a family history of OC. Oral systemic treatment included cysteamine bitartrate and topical eye drops included either Cystadrops or Cysteamine hydrochloride ophthalmic solution. Average age at diagnosis was 15 months; six with clinical diagnosis and eight with genetic diagnosis. Four had stage IV chronic kidney disease and three had had renal transplant. Most cases were asymptomatic but four reported photophobia and one eye pain. Visual acuities and intraocular pressures were within normal ranges. On slit lamp examination, 10 showed crystals in the cornea, two in the cornea and conjunctiva, one with diffuse disease and three with papilledema. Overall, there was good compliance with eye drops in eight but poor in five. Four reported eye drop side-effects. Compliance did not improve despite repeated discussion and education. Compounding factors were noted as low literacy levels and communication difficulties with parents, cultural and social factors, financial burden and geographical location. It is important to address these barriers to improve treatment compliance to help preserve vision and improve quality of life.
Canadian centre experience with ocular cystinosis cases
Reviewed by Fiona Rowe
Ocular cystinosis experience in Southwestern Ontario.
CONTRIBUTOR
Fiona Rowe (Prof)
Institute of Population Health, University of Liverpool, UK.
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