Patient Presentation: A 23-year-old obese female was diagnosed with idiopathic intracranial hypertension (IIH) and referred to neurosurgery for ventriculoperitoneal shunt. A baseline ocular examination was performed prior to the procedure.
On examination, vision was 20/200 in the right eye, and 20/40 in the left eye. There was a right relative afferent pupillary defect. Slit lamp examination was normal.
A dilated fundus examination was performed demonstrating the following:
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Cornea
Case 1
Patient presentation: A 23-year-old male was referred for evaluation of photophobia and mild visual disturbances. He has no significant medical or ocular history. On examination, his best-corrected visual acuity was 20/20 OD and 20/20 OS.
Slit-lamp examination was conducted, with photos shown below:
Anterior segment OCT (AS-OCT) of the cornea was performed and is shown below:
Question 1: What abnormal finding is demonstrated in the AS-OCT image above?
Question 2: Based on the slit lamp photograph and AS-OCT imaging, what is the most likely diagnosis?
Question 3: In addition to corneal findings, how else can ocular cystinosis present in the eye?
Question 4: Which of the following is NOT typically considered in the differential diagnosis for corneal stromal crystals?
Question 5: Ocular findings of cystinosis are noted in a 30-year-old woman with no history of renal disease and normal renal function. Which form of cystinosis does she most likely have?
Question 6: Compared with older adults, where does crystal deposition occur in children?
Question 7: What is the most appropriate topical therapy for this patient?
References
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Keidel L, Elhardt C, Hohenfellner K, et al. Establishing an objective biomarker for corneal cystinosis using a threshold-based Spectral domain optical coherence tomography imaging algorithm. Acta Ophthalmol. 2021;99(2):e189-e195. doi:10.1111/aos.14569
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Biswas S, Gaviria M, Malheiro L, Marques JP, Giordano V, Liang H. Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum. Ophthalmol Ther. 2018;7(2):307-322. doi:10.1007/s40123-018-0146-6
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Üzüm S, Oflaz AB, Guluzade S et al. Ocular Involvement in Patients with Infantile Nephropathic Cystinosis. Turk J Ophthalmol. 2024;54(4):235-239. doi:10.4274/tjo.galenos.2024.89957
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Sharma L, Rout P. Cystinosis [Updated 2024 Sep 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan. [cited 2025 Jan 15]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK608010/
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Csorba A, Maka E, Maneschg OA, et al. Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study. BMC Ophthalmol. 2020;20(1):73. doi:10.1186/s12886-020-013
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Shams F, Livingstone I, Oladiwura D, Ramaesh K. Treatment of corneal cystine crystal accumulation in patients with cystinosis. Clin Ophthalmol. 2014;8:2077-2084. Published 2014 Oct 10. doi:10.2147/OPTH.S36626
Learning Objectives:
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Recognize the clinical and imaging features of ocular cystinosis include multicolored refractile stromal deposits on slit-lamp exam and hyperreflective punctate lesions on AS-OCT.
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Recognize that topical cysteamine is the treatment for reducing corneal crystal burden, whereas systemic cysteamine is useful for systemic symptoms.