Related Experiment Video
Updated: Aug 10, 2026
08:55
Translaminar Autonomous System Model for the Modulation of Intraocular and Intracranial Pressure in Human Donor Posterior Segments
Published on: April 24, 2020
Therapy-resistant papilledema in achondroplasia
Summary
A 20-year-old with achondroplasia experienced rapid vision loss due to severe papilledema and increased intracranial pressure, despite shunt revision. This case highlights potential complications in achondroplasia management.
Area of Science:
- Neurology
- Genetics
- Ophthalmology
Background:
- Achondroplasia is a common form of dwarfism. Patients may develop hydrocephalus requiring cerebrospinal fluid diversion.
- A 20-year-old male with achondroplasia had a history of ventriculoperitoneal shunt placement for presumed hydrocephalus since age 3.
Observation:
- The patient presented with severe, rapidly progressing papilledema.
- No prior documentation of severe ventriculomegaly was found.
- Intracranial pressure was elevated, and the existing shunt was found to be obliterated.
Findings:
- Despite prompt surgical intervention, including shunt revision and optic nerve sheath decompression, the patient developed irreversible postpapilledema optic atrophy.
- This resulted in bilateral blindness, indicating a severe visual outcome.
Implications:
- The case underscores the complex pathophysiology of increased intracranial pressure in achondroplasia.
- It highlights the critical need for vigilant monitoring and management of neurological complications in individuals with achondroplasia.
- Early detection and intervention are crucial to prevent severe visual impairment.
Related Concept Videos
01:25Glaucoma: 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...
01:27Open 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...
Drugs such as carbonic anhydrase inhibitors, α2- and...
01:28Angle 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...
01:14Increased Intracranial Pressure l: Introduction
Intracranial hypertension is a sustained elevation of intracranial pressure (ICP) above 22 mm Hg. In supine adults, normal ICP is ~7–15 mm Hg.The rigid, nonexpandable cranium contains three components—brain tissue, blood, and cerebrospinal fluid (CSF)—that total ~1,700 mL in a typical adult: 1,400 mL brain (~80%), 150 mL blood (~10%), and 150 mL CSF (~10%). According to the Monro–Kellie doctrine, total intracranial volume is effectively fixed. When one component expands, CSF and venous blood...
01:29Increased Intracranial Pressure ll: Pathophysiology
Increased intracranial pressure (ICP) refers to a potentially life-threatening rise in pressure inside the skull. This usually happens when there is a major change in the volume of brain tissue, blood, or cerebrospinal fluid (CSF) — the three components inside the skull. According to the Monro-Kellie doctrine, if the volume of one component increases, the volumes of the other components must decrease to maintain normal pressure. If this does not happen, ICP rises.The process often begins with...
01:22Cerebral Edema ll: Pathophysiology
Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...