Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Glaucoma: Overview

Glaucoma: Overview

Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

American journal of human genetics·2026

Same author

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same author

Surgical Management of Corneal Damage in Patients with Primary and Post-Surgical Eyelid Anomalies.

Journal of clinical medicine·2026

Same author

Correction: Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.

Journal of endocrinological investigation·2026

Same author

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Orphanet journal of rare diseases·2026

Same author

Corneal Toxicity of Mirvetuximab Soravtansine: Multimodal Imaging Features and Implications for Ophthalmologic Management.

Diagnostics (Basel, Switzerland)·2026

Search research articles

Related Experiment Video

Updated: Aug 28, 2025

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

Multimodal ocular imaging in Proteus syndrome.

Annabella Salerni^1,2, Luca Scartozzi^1,2, Fabrizio Piccinni^1,2

¹Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.

European Journal of Ophthalmology

|September 16, 2022

Summary

This report details ophthalmologic findings in two patients with Proteus Syndrome (PS), a rare genetic disorder. Multimodal imaging aids in evaluating PS ocular complications and tracking disease progression.

Keywords:

Proteus syndrome limbal dermoid cyst miransertib myopic chorioretinopathy optic nerve drusen

More Related Videos

Monocular Visual Deprivation and Ocular Dominance Plasticity Measurement in the Mouse Primary Visual Cortex

Monocular Visual Deprivation and Ocular Dominance Plasticity Measurement in the Mouse Primary Visual Cortex

Published on: February 8, 2020

Integrated Photoacoustic Ophthalmoscopy and Spectral-domain Optical Coherence Tomography

Integrated Photoacoustic Ophthalmoscopy and Spectral-domain Optical Coherence Tomography

Published on: January 15, 2013

Related Experiment Videos

Last Updated: Aug 28, 2025

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

Monocular Visual Deprivation and Ocular Dominance Plasticity Measurement in the Mouse Primary Visual Cortex

Monocular Visual Deprivation and Ocular Dominance Plasticity Measurement in the Mouse Primary Visual Cortex

Published on: February 8, 2020

Integrated Photoacoustic Ophthalmoscopy and Spectral-domain Optical Coherence Tomography

Integrated Photoacoustic Ophthalmoscopy and Spectral-domain Optical Coherence Tomography

Published on: January 15, 2013

Area of Science:

Ophthalmology
Genetics
Medical Imaging

Background:

Proteus Syndrome (PS) is an extremely rare genetic disorder.
Ophthalmologic manifestations in PS are diverse and can significantly impact vision.

Observation:

Case 1: A 26-year-old male with PS presented with limbal dermoid cyst, unilateral cataract, bilateral nystagmus, severe myopia, and optic nerve head drusen.
Case 2: A 20-year-old female with PS underwent evaluation after treatment with Miransertib, an AKT-pathway inhibitor.

Findings:

Both patients underwent comprehensive ophthalmologic examinations and multimodal imaging.
Multimodal imaging proved valuable for detailed case evaluation and monitoring disease evolution in PS patients.

Implications:

This study highlights the utility of multimodal imaging in assessing and characterizing rare ocular conditions associated with Proteus Syndrome.
Understanding these ophthalmologic features is crucial for comprehensive patient management and further research into PS pathogenesis.