A 9-year-old child with bilateral cataracts

Presenting symptoms¹

A 9-year-old child was referred to an ophthalmologist for decreased vision over several months.

Examination¹

Uncorrected distance visual acuity was 20/80 OU and uncorrected near acuity was 20/50 OU, manifest refraction was 0.75+0.50 X 90 OU, with a corrected distance acuity of 20/60 OD and 20/80 OS. A complete dilated examination was remarkable for the presence of a cataract in each eye, described as a diffuse nuclear haze on slit lamp examination, with mild posterior capsular opacification.

Medical and family history¹

Patient’s medical history was significant for diarrhea, and patient had also been diagnosed with a nonverbal learning disorder. A metabolic workup indicated plasma 5-cholestanol level was markedly elevated at 3.7 mg/dL (normal <0.2 mg/dL), which was suggestive of CTX.

Outcome¹

Sequential bilateral cataract surgery with intraocular lens placement corrected visual acuity to 20/20 OU. After 6 years, due to early diagnosis and appropriate management, no further clinical manifestations of CTX had developed.