Unilateral congenital cataract with local lens deformity in a patient without Marfan syndrome: a case report

Background Congenital cataract with a localized lens deformity and focal zonular absence in the absence of Marfan syndrome is extremely rare and has not, to our knowledge, been reported. We report such a case to highlight its clinical features and surgical management. Case presentation: A 58-year-old man with well-controlled hypertension and type 2 diabetes but no clinical features of Marfan syndrome presented with poor vision in the right eye since childhood, which had worsened over the previous four years. Best-corrected visual acuity (BCVA) was 0.2 in the right eye. Visual acuity in the left eye improved from 0.3 to 0.6 with optical correction. The right eye had been diagnosed with congenital cataract at 8 years of age. Examination revealed central, irregular lens opacity extending nasally, with a localized lens deformity and focal zonular absence from the 2:30 to 3:30 clock position in the right eye; the left eye showed mild lens opacity. The diagnoses were congenital cataract and amblyopia in the right eye, senile cataract in the left eye, and bilateral refractive errors. Phacoemulsification with intraocular lens (IOL) implantation was performed in the right eye, and postoperative visual acuity improved to 0.4. Conclusions This is an unreported case of non-Marfan-associated congenital lens deformity with local lens and zonule defects. Recognition of the focal zonular deficiency is important for surgical planning, and long-term monitoring is recommended.