Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with corneal crystal deposition and no systemic involvement. Due to the rarity of the condition, diagnosis is often delayed and can have a significant impact on the overall prognosis of the disease. Early diagnosis is therefore imperative to ensure successful treatment and improve quality of life, as most of its clinical manifestations can be prevented or delayed. Early detection strategies and practical approaches for the ocular management of cystinosis were discussed during the Ophthalmology Cystinosis Forum, a 1-day meeting held in Berlin, Germany during June 2017. Recommendations for early detection comprise ophthalmic assessment, including self- and clinician-assessed recording of photophobia, and visual acuity, slit-lamp examination and tonometry ophthalmic examinations. In vivo confocal microscopy and anterior segment optical coherence tomography were highlighted as valuable techniques in evaluating cystine crystals in the cornea, in vivo and non-invasively. The mainstay of ocular cystinosis treatment is the cystine-depleting aminothiol cysteamine. Indeed, early treatment with and strict adherence to cysteamine therapy has a considerable impact on the long-term prognosis of ocular cystinosis. In rare diseases such as ocular cystinosis, standardised guidelines and recommendations for detection, patient care and follow-up assessments are essential. Such guidelines provide a support tool for healthcare professionals caring for ocular cystinosis patients. Multidisciplinary teams (MDTs) are essential for delivering gold standard care and improving quality of life for patients and their families. This review paper highlights current early detection policies, clinical treatment strategies and practical approaches for the ocular management of cystinosis, including implementing a cystinosis MDT. Additionally, discussions of the Ophthalmology Cystinosis Forum held in 2017 are summarised.FundingOrphan Europe.Plain Language SummaryPlain language summary available for this article.

<b><i>Introduction:</i></b> Intra-arterial chemotherapy (IAC) is useful for eye preservation in advanced retinoblastoma (Rb). Intra-vitreal chemotherapy (IvitC) is the latest treatment for vitreous seeds. <b><i>Methods:</i></b> The present study is a retrospective assessment of 100 eyes, treated with primary or secondary IAC alone or with IvitC. We evaluated demographic and clinical variables, eye salvage, associated adverse events, and patient survival. Data were analyzed using descriptive statistics. Kaplan-Meier survival curves and Cox hazard ratios were utilized to assess the effect of demographic and clinical variables over eye salvage. <b><i>Results:</i></b> Bilateral Rb was observed in 61% of patients, and 57% of eyes received secondary treatment. Forty eyes needed intra-arterial plus IvitC and 62 presented advanced disease (group D and E). Three- and 5-year ocular survival probabilities were 75 and 68%. We found a higher risk in group D and E eyes and those requiring 2 or more routes for ophthalmic artery catheterization. Patients coming from other countries also showed increased risk. Using primary or secondary treatment, or IvitC, did not affect this risk. Overall rates of survival and eye salvages were 98.8 and 73%, and we had a 100% catheterization success and none ophthalmic arterial occlusions. <b><i>Conclusions:</i></b> In an upper middle-income country such as Colombia, a specialized institution counting with therapeutic alternatives and a multidisciplinary team can reach rates of patient survival and eye salvage similar to those of high-income countries.