Ocular Manifestations Of Cystinosis

to report the case of ocular involvement associated with cystinosis in a patient and members of his family

Ophthalmology Department in Fattouma Bourguiba University Hospital, Monastir, Tunisia.

A 30-year Caucasian man, with second-degree consanguineous parents and growth failure presented with a history of hypothyroidism, diabetes complicated with diabetic retinopathy treated with laser, and infantile cystinosis with resulting Fanconi syndrome and renal failure for which he received hemodialysis.

He was referred by his nephrologist to look forfor ophthalmologic manifestations of his disease. He complained of photophobia. His best-corrected visual Acuity was 16/20 in both eyes. Slit lamp examination revealed refractile crystals within the anterior stroma of both corneas. In fundus examination the optic disc was pale, and inactive proliferative diabetic retinopathy with effective panretinal  laser  photocoagulation. The rest of both eyes examination was unremarkable.

Anterior segment optical coherence tomography (AS-OCT) images revealed deposition of hyperreflective crystals from limbus to limbus within the anterior stroma of both corneas.

Spectral-domain optical coherence tomography (SD-OCT) showed little hyperreflective foci throughout the retinal internal layers. The diagnosis of corneal and retinal abnormality related to his cystinosis disease was retained .Systemic assessment of the patient revealed cardiac failure and the cardiac ultrasound showed left ventricular ejection fraction at 25 percent with granite and shiny myocardial deposits. Consequently, a screening test with the ophthalmologic examination was undergone for all members of his family. 

Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the systemic accumulation of cystine crystals. Its clinical spectrum varies based on the age of onset, severity, and the extent of renal involvement. While nephropathy remains a hallmark of the disease, ocular manifestations are ubiquitous and potentially sight-threatening, affecting virtually all ocular structures. Recent advances in diagnostic imaging and early therapeutic intervention have significantly improved the ocular prognosis. However, a coordinated multidisciplinary approach remains essential for optimal patient management