Abstract: Objective To investigate clinical characteristics and etiology of infantile cataract combined with vitreous abnormalities. Design Retrospective and non-controlled case series. Participants From January 2013 to July 2014 at Beijing Tongren Eye Center eighty-four children (114 eyes) aged 3-year old or younger who were diagnosed as cataract and detected vitreous abnormality by ophthalmic color Doppler flow imaging (CDFI) ultrasound were enrolled. Methods Charts of these patients were reviewed. Age, chief complaints, signs, CDFI examination and suggested diagnosis, proven diagnosis, past history, family history, and pregnancy history of their mothers were recorded. Etiology and clinical characteristics were analyzed. Main Outcome Measures Age, symptoms, course, signs, CDFI manifestations and suggested diagnosis, proven diagnosis. Results Age at presentation varied from 0 to15 months (2.7±3.0 months). Age at diagnosis was 2~20 months (7.8±4.2 months). Abnormalities were noticed by parents in 81 cases (96.4%) and detected by eye examinations in 3 cases (3.6%). The first noticed symptoms were leukocoria in 39 cases (46.4%), unable to follow objects in 16 cases (19.0%), strabismus in 10 cases (11.9%), and binocular asymmetry in 7 cases (8.3%). The cataract was complete type in 75 eyes (65.8%), posterior polar type in 38 eyes (33.3%), and membranous type in 1 eye (0.9%). They could complicate with nystagmus, strabismus, microphthalmia, shallow anterior chamber, secondary glaucoma, persistent pupillary membrane, tractional retinal detachment and coloboma of choroid. CDFI suggested diagnosis included persistent hyperplastic primary vitreous (PHPV) in 111 eyes (97.4%), retinal detachment in 3 eyes (2.6%). Confirmed diagnosis after surgery included PHPV in 76 eyes (66.7%), family exudative vitreoretinopathy (FEVR) in 14 eyes (12.3%) and congenital cataract in 24 eyes (21.0%). CDFI suggested diagnosis and post-operative confirmed diagnosis were consistent in 69.3% cases. Conclusion Patients who were diagnosed as infantile cataract presumptively with abnormal vitreous were mostly at large month-old and mostly noticed as leukocoria by their parents, which could complicate with a variety of ocular abnormality. Pre-operative CDFI examination could detect vitreous and retinal disorders. (Ophthalmol CHN, 2015, 24: 103-107)

Key words: congenital cataract, persistent hyperplastic primary vitreous, family exudative vitreoretinopathy