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

Accessory Structures of the Eye

Accessory Structures of the Eye

Optical perception, or vision, is an extraordinary sense dependent on converting light signals received via the ocular organs. These organs, known as eyes, are securely positioned within the bony cavities of the skull, called orbits. The orbits serve a dual purpose: a protective shield for the ocular globes and a stable attachment point for the soft ocular tissues. The eye's external protective mechanisms include the eyelids, which are edged with lashes that act as a barrier against foreign...

Prosopagnosia

Prosopagnosia

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...

Angle Closure Glaucoma: Treatment

Angle Closure Glaucoma: Treatment

Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...

Cushing Syndrome II: Pathophysiology

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...

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...

Open Angle Glaucoma: Treatment

Open Angle Glaucoma: Treatment

In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...

You might also read

Related Articles

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

Sort by

Same author

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants.

Journal of neuro-oncology·2026

Same author

PTPN11-Related Noonan Syndrome Predisposes to Multifocal Low-Grade CNS Tumors Harboring FGFR1 Variants.

Research square·2026

Same author

Artificial intelligence supported facial feature analysis in medical genetics.

Current opinion in pediatrics·2025

Same author

Encephalocraniocutaneous lipomatosis-a neuroradiological perspective.

Pediatric radiology·2025

Same author

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.

Genetics in medicine open·2025

Same author

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

European journal of human genetics : EJHG·2025

Search research articles

Related Experiment Video

Updated: May 13, 2026

Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

Published on: November 12, 2015

Keratoconus in Costello syndrome.

Karen W Gripp¹, Laurie A Demmer

¹Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, DE, USA. kgripp@nemours.org

American Journal of Medical Genetics. Part A

|March 16, 2013

Summary

Keratoconus, a progressive corneal disease, occurred in a male with Costello syndrome. This case highlights a potential increased risk of keratoconus in Costello syndrome patients, necessitating ophthalmological surveillance.

Area of Science:

Ophthalmology
Genetics
Corneal Diseases

Background:

Keratoconus is a progressive corneal dystrophy causing thinning, irregular shape, and astigmatism, potentially requiring corneal transplantation.
It is rare in the general population but more prevalent in individuals with intellectual disabilities and syndromic conditions.
Connective tissue abnormalities, like brittle cornea syndrome, are often linked to keratoconus.

Observation:

A 24-year-old male with Costello syndrome presented with bilateral keratoconus and acute hydrops in the left eye.
The patient received medical treatment for the hydrops.

Findings:

Following hydrops resolution, the patient experienced significant visual impairment due to irregular astigmatism and corneal scarring.
This is the second reported case of keratoconus in an individual with Costello syndrome.

More Related Videos

Full-Field Optical Coherence Microscopy for Histology-Like Analysis of Stromal Features in Corneal Grafts

Full-Field Optical Coherence Microscopy for Histology-Like Analysis of Stromal Features in Corneal Grafts

Published on: October 21, 2022

Related Experiment Videos

Last Updated: May 13, 2026

Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

Published on: November 12, 2015

Full-Field Optical Coherence Microscopy for Histology-Like Analysis of Stromal Features in Corneal Grafts

Full-Field Optical Coherence Microscopy for Histology-Like Analysis of Stromal Features in Corneal Grafts

Published on: October 21, 2022

Implications:

The findings suggest an elevated risk of keratoconus in individuals with Costello syndrome.
Regular ophthalmological monitoring is recommended for adults with Costello syndrome.
Prompt evaluation of any vision changes in these individuals is crucial.