Case report: tuberous sclerosis and persistent hyperplastic primary vitreous

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Persistent hyperplastic primary vitreous (PHPV) is a congenital condition affecting the eye's development.
• Tuberous sclerosis (TS) is a genetic disorder that can affect multiple organs, including the brain and skin.
• The co-occurrence of PHPV and TS is exceptionally rare, with only one prior case report in the literature.

Observation:

• A case study of an 11-month-old male infant presenting with leukocoria, microphthalmia, and suspected PHPV.
• The infant was diagnosed with tuberous sclerosis (TS) based on imaging findings, including a mass near the lens.
• Ophthalmological examination confirmed microphthalmia, PHPV, and a retrolental mass, possibly a retinal hamartoma with detachment.

Findings:

• This case represents the second documented instance of PHPV in a patient with TS.
• The findings support a potential, albeit rare, association between TS and PHPV.
• The study discusses the possible influence of abnormal globe development in PHPV on the location of retinal hamartomas in TS patients.

Implications:

• This case contributes to the limited understanding of ocular manifestations in tuberous sclerosis.
• Further research may elucidate the underlying mechanisms connecting TS and PHPV.
• Increased awareness among clinicians may aid in the early diagnosis of this rare ocular condition in infants with TS.