Coexistence of combined hamartoma of the retina and retinal pigment epithelium and lipodermoid in neurofibromatosis type 1: Expanding the spectrum of ocular manifestations

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.

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Publication Details

Journal
The Pan-American Journal of Ophthalmology
Published
2025-10-01
DOI
https://doi.org/10.4103/pajo.pajo_68_25
Primary Topic
Neurofibromatosis and Schwannoma Cases
Type
article
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article

Coexistence of combined hamartoma of the retina and retinal pigment epithelium and lipodermoid in neurofibromatosis type 1: Expanding the spectrum of ocular manifestations

Yash Parmar, Salma Mohd Iqbal Tabani, Namita Abhay Bhore, Sweety Shinde et al.
The Pan-American Journal of Ophthalmology
Neurofibromatosis and Schwannoma Cases
article

Coexistence of combined hamartoma of the retina and retinal pigment epithelium and lipodermoid in neurofibromatosis type 1: Expanding the spectrum of ocular manifestations

Yash Parmar, Salma Mohd Iqbal Tabani, Namita Abhay Bhore, Sweety Shinde, Nayana A. Potdar, Sanskruti Narendra Sulbhewar
article en

Abstract

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.

The Pan-American Journal of OphthalmologyVol. 7(1)
Topiwala National Medical College & BYL Nair Charitable Hospital (IN)
Openalex Percentile: Top 55%
Neurofibromatosis and Schwannoma Cases
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