Atypical anterior persistent hyperplastic primary vitreous: report of a rare case

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV) is a congenital form of vitreous dysplasia that can be categorized into anterior, posterior, and mixed types according to the affected location within the eye. Definitive diagnoses of PHPV are usually made based on B-mode ultrasound, optical coherence tomography (OCT), and Doppler ultrasound findings. In this report, we discuss the case of a 7-year-old boy in whom a definitive diagnosis of atypical anterior PHPV was possible based on intraoperative observations, pathological findings, and the results of ophthalmic examination. CASE PRESENTATION: A 7-year-old boy presented with leukocoria and acute glaucoma in his right eye. Imaging suggested characteristics of mixed PHPV. Surgical treatment and pathological examination were performed due to the presence of acute glaucoma and abnormal lens morphology. Typical signs of posterior PHPV (e.g., eyeball shrinkage, the presence of vascular membranes connected to the optic disc, etc.) were not observed. However, there were abundant fibrous vascular membranes around the lens. Pathological examination revealed fibrocyte proliferation in the lens and capsular tissue. Intraoperative findings were used in conjunction with the results of pathological and ophthalmological examinations to make the final diagnosis of anterior PHPV. CONCLUSION: The course and characteristics of PHPV can be unpredictable, and it is often the case that a clear diagnosis cannot be obtained based on clinical characteristics and typical imaging examinations alone. Further surgical treatment and pathological examination may aid in establishing a final diagnosis. In addition to treating the complications of PHPV (e.g., glaucoma), surgery may improve eye appearance and restore visual function to some degree.