Purpose: To report a unique case of cataract in a young patient with lathosterolosis, a singular defect of cholesterol biosynthesis, and to report the clinical results and histopathologic findings after cataract surgery.
Methods: A 7-year-old patient with lathosterolosis, a rare defect of cholesterol biosynthesis, presented with a complex phenotype, including severe mental retardation, liver disease, multiple congenital anomalies, and bilateral posterior subcapsular cataracts. After a severe metabolic decompensation, a worsening in the lens opacity of the left eye occurred. The authors thus performed cataract surgery and made a histopathologic analysis of aspirated lenticular samples. The following examinations were performed at 1 day, 1 week, 3 months, 6 months, 12 months, and 24 months: refraction, biomicroscopy, and fundus evaluation. Visual acuity was not assessable due to lack of patient collaboration. The postoperative follow-up period was 24 months.
Results: Histopathologic findings on lenticular fragments revealed the presence of fibers disposed in a honeycomb, samples with homogeneous eosinophilic lens fibers, and other fragments characterized by bulgy elements referable to cortical fibers with degenerative characteristics. After surgery, biomicroscopic evaluation revealed no significant inflammation and good intraocular lens centration at the various control visits. No intraoperative or postoperative complications occurred. No posterior capsule opacification occurred 2 years after surgery.
Conclusions: Lathosterolosis may lead to dysmetabolic cataract development; this unique case of cataract in such a patient has been successfully managed with surgery. Clinical results were excellent, and no complications occurred either intra- or postoperatively.