Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms

Area of Science:

• Genetics
• Ophthalmology
• Neurology

Background:

• Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous disorder.
• It affects skin, central nervous system, and dental development, with significant ophthalmic associations.
• IP is typically lethal in males, making female cases more common.

Observation:

• A case study of an 18-month-old female with diagnosed IP and West syndrome.
• The patient presented with developmental delay and infantile spasms.
• Unique ophthalmic findings included left eye microphthalmia and persistent hyperplastic primary vitreous.

Findings:

• This presentation of microphthalmia and PHPV is rare in Incontinentia pigmenti.
• The case expands the known spectrum of ocular manifestations in IP.
• The combination with West syndrome underscores the complex neurological impact of IP.

Implications:

• Highlights the importance of comprehensive ophthalmologic evaluation in infants with IP.
• Suggests potential for novel therapeutic targets for IP-related ocular and neurological conditions.
• Contributes to understanding the phenotypic variability of Incontinentia pigmenti.