Bilateral Cerulean Cataract In A 53-Year-Old Patient With Down Syndrome: A Case Report.

To report an incidental finding of bilateral cerulean cataract in an adult patient with Down syndrome and highlight the importance of meticulous anterior segment examination in this population and the morphological, genetic, and management specificities of this rare congenital cataract subtype.

Department of Ophthalmology, Hôpital des Spécialités, Ibn Sina University Hospital, Rabat, Morocco.

A 53-year-old male patient with trisomy 21 was referred for routine follow-up of mild non-proliferative diabetic retinopathy. Assessment of best-corrected visual acuity was not possible due to limited cooperation.

Slit-lamp biomicroscopy revealed bilateral, symmetrical bluish-white punctate opacities distributed in concentric lamellar patterns within the mid-peripheral lens cortex. The lesions had a characteristic “blue-dot” appearance, more visible under retroillumination, with no significant nuclear sclerosis or posterior subcapsular component. The anterior chamber was quiet and intraocular pressure was normal.

The morphological pattern was consistent with cerulean cataract, a rare congenital cortical cataract characterized by small, discrete, blue-white opacities arranged radially or concentrically. This subtype is typically inherited in an autosomal dominant pattern and has been associated with mutations in crystallin genes, particularly CRYBB2, CRYGD.

Cerulean cataract is generally slowly progressive and often remains visually insignificant during childhood, sometimes becoming symptomatic only in early or mid-adulthood. In this patient, the cataract was discovered incidentally, as the consultation was primarily focused on posterior segment evaluation.

Fundus examination, although technically challenging, confirmed stable diabetic retinopathy without macular edema. Given the absence of obvious functional impairment, a conservative approach with close follow-up was adopted.

Cerulean cataract is typically congenital and slowly progressive but may remain undiagnosed into adulthood, especially in patients with cognitive impairment.

Individuals with Down syndrome have a higher prevalence of ocular comorbidities, including keratoconus and cataract. This case highlights the importance of systematic and meticulous slit-lamp examination in non-cooperative patients, even when consultation is primarily directed toward posterior segment disease and the complexity of surgical decision-making in cognitively impaired adults, where visual acuity assessment and subjective symptoms may be unreliable.

Comprehensive ophthalmologic evaluation remains essential to optimize long-term visual outcomes in this vulnerable population.