Coexistence of combined hamartoma of the retina and retinal pigment epithelium and lipodermoid in neurofibromatosis type 1: Expanding the spectrum of ocular manifestations
Year: 2025
Type: article
Study design: Case Report
Abstract: We report a rare case of concurrent combined hamartoma of the retina and retinal pigment epithelium (CHR-RPE), sensory esotropia, and conjunctival lipodermoid in a 25-year-old female with clinical features suggestive of neurofibromatosis type 1 (NF-1). To our knowledge, this is the first documented case of the concurrent presentation of CHR-RPE, sensory esotropia, and subconjunctival lipodermoid in a patient with NF-1. This report aims to expand the current understanding of ocular manifestations of NF-1.
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4415733741