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Ocular findings of BRPF1 variants: a case report and literature review

Lakshmi Soundarya Varsha Mallapragada1, Verlyn Yang1, Krishna Tumuluri2

  • 1Department of Ophthalmology, Children's Hospital Westmead, Sydney, Australia.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|August 2, 2025
PubMed

Insights

Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) is a rare genetic condition linked to BRPF1 gene variants. This case highlights a new BRPF1 variant causing IDDDFP in a young girl with ptosis.

Area of Science:

  • Genetics
  • Developmental Biology
  • Ophthalmology

Background:

  • Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) is a rare genetic disorder.
  • BRPF1 gene variants are known to cause IDDDFP.
  • Early diagnosis and genetic understanding are crucial for patient management.

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