Usher Syndrome, a rare genetic disorder, causes progressive hearing and vision loss, and people with the condition sometimes eventually become deaf and blind.

Gene therapy for a rare type of deafness is allowing deaf children and adults to hear for the first time, according to research results reported in April 2026.

Gene therapy is restoring hearing among kids with genetic deafness

Gene therapy for profound genetic deafness has been advancing in recent years, with multiple clinical trials enabling hearing at normal levels for the first time without hearing aids or cochlear implants. The therapies target hearing loss caused by mutations in the OTOF gene that codes for a protein called otoferlin. That protein normally plays a key role in relaying sound signals in synaptic transmission between the ear's inner hair cells and the auditory nerve.

A single-gene mutation in the FOXC2 gene gave actress Elizabeth Taylor two rows of eyelashes.

Age-related hearing loss, known as presbycusis, is a top cause of hearing loss

This video walks through the biology of why presbycusis (prez-buh-kyoo-sis) occurs and its etiology. This type of hearing loss is gradual and typically starts with reductions in the ability to hear high-pitched sounds.

Scientists using gene therapy recently managed to regenerate retinal cells in the lab—a breakthrough for mammals that could potentially lead to future treatments for human retinal diseases.

A planned clinical trial to treat a rare lysosomal storage disorder in utero has buoyed hopes of providing prenatal gene therapies, but it was still awaiting FDA approval to begin enrolling patients as of May 2026.

Age-related macular degeneration is the primary cause of blindness in older Americans.

If hearing is damaged, the brain may amplify remaining sounds, perhaps causing tinnitus.

In a first, eye prosthesis has restored sight to macular generation patients

In a clinical trial, 27 of 32 participants with advanced macular degeneration regained enough vision to read books, food labels, and subway signs about a year after receiving a prosthetic retina device. This is the first device to restore functional vision to patients with incurable vision loss, though in this case they can only see in black and white, with no shades in between.

Using brain implants to restore vision

Several companies are attempting to create brain-computer interfaces that skip over retinas and optic nerves to allow visual input to go straight to the brain, potentially restoring some sight to the blind. Clinical trial findings suggest restored sight is sparse and manifests differently than a sighted person might expect, appearing as specks of "light" clusters called phosphenes to help differentiate one's surroundings.

Carrier screening enables individuals without symptoms to see if they carry a gene for disease

Some conditions are autosomal recessive—meaning a person may carry a gene for that condition, but not have symptoms. Cystic fibrosis, sickle cell disease, and Tay-Sachs disease are examples of autosomal recessive diseases in which a person must inherit two copies of a nonfunctioning gene—one from each parent—to develop disease.

Gene therapy, a hope of the Human Genome Project, has successfully treated a baby born with a rare urea cycle disorder that causes toxic ammonia level buildup.

Tetrachromacy allows humans to observe 10 times the normal amount of colors

Resulting from a mutation on the X chromosome, the rare genetic condition causes individuals to possess an additional type of photoreceptor cell, typically sensitive to the orange range, located between the standard red and green cones. This enables the perception of approximately 100 million colors.

Proteins with limited light sensitivity prevent humans from seeing all types of light

Specialized photoreceptor cells in the retina called cones each possess photopigments that activate when exposed to three ranges of visible light. Other forms of electromagnetic radiation outside the activation range do not generate signals for processing in the brain, thereby limiting average human vision to approximately 10 million colors.

See how cataracts—a leading cause of vision loss globally—form and how sound waves are often used to help remove them.

More than 5% of the world's population has disabling hearing loss

Disabling hearing loss is defined as hearing loss greater than 35 decibels in the better hearing ear. (For context, that means the sound of leaves rustling, at roughly 30 decibels, would be inaudible even to your better-hearing ear.) The World Health Organization's data suggests that more than 5% of the world's population has this level of loss requiring rehabilitation, which amounts to 430 million people—including 34 million children.

Common genetic disorders

As research continues, it's clear that disease and genetics go hand in hand. Here's a selection of 50 National Human Genome Research Institute (NHGRI) articles providing basic information on genetic, orphan, and rare diseases caused by mutations in DNA sequences, whether inherited from parents or brought about by outside factors.

See this list of FDA-approved gene therapies, including offerings for inherited conditions as well as some forms of cancer.

As deposits build up under the eye, the retina bends with macular degeneration

The retina bends due to the accumulation of proteins and other materials beneath it. That's considered the milder "dry" form of macular degeneration. Another form, called "wet" macular degeneration, is caused by abnormal blood vessels leaking fluid into the eye, which can rapidly affect central vision.

One theory claims the retinae of SAD patients may fail to adjust to less light in winter

Most people’s eyes become more sensitive to light in the winter months, but some do not. This failure to adjust causes ripple effects on those individuals’ biological clocks. This Ted-ED video provides a clear, brief, narrative explanation of the condition in six minutes.

Restoring vision in impaired patients via CRISPR

Since CRISPR was revealed as a gene editing tool in 2012, it has been on an accelerated track to real-world applications. Among other clinical demonstrations, doctors have now injected a CRISPR treatment directly into eye cells, helping vision-impaired patients see shapes and colors again.

Alkaptonuria was the first identified genetic disorder

In 1902, a rare recessive mutation was determined to cause alkaptonuria—a disease that induces dark pigmentation of connective tissue. The responsible gene was not isolated until the 1990s.

Here's why genetically identical sisters can have different colored eyes

The sequence of DNA that we inherit from our parents encodes directions for making our cells and giving us specific traits. Identical twins have the same DNA sequence, so how can one twin end up with a genetic disorder while the other twin does not? Robin Ball explains how the secret lies in X chromosome inactivation.

An ear doctor with hearing loss seeks to help those with hearing loss enjoy music

Alex Chern, an ear doctor who has hearing loss himself, dreams of restoring the ability to experience "all the richness and the beauty of the sound of music" for patients—not just functional hearing. Hearing aids amplify sound waves and aren't designed to work well with music that may have varied pitch and volume. Chern is studying how hearing loss and engaging with music may affect cognitive decline.

Leprosy affects the skin, eyes, and upper respiratory tract

Untreated, the disease can lead to permanent nerve damage and the loss of sensation in arms, legs, and other extremities. The exact form of transmission remains unclear, but scientists suspect it is spread via respiratory droplets over a prolonged period. (Warning: Graphic content, including photos of deformities.)

The deadly genetic disease that steals shut-eye

Few are haunted by fatal familial insomnia. This neurodegenerative disease is typically carried through bloodlines via genetic mutation of the prion protein gene, forcing the body to create abnormal and pathological protein variations that can corrupt normal versions. This article follows a musician as they attempt to come to terms with the FFI plaguing their family (and, possibly, their future).

See worldwide hearing loss by age group and country

This 2023 data from the Institute for Health Metrics and Evaluation shows the estimated number of people with complete hearing loss in different age groups per 100,000 people in the population. Individuals aged 70 or older make up the largest group with this type of hearing deficit.

Individuals with synesthesia experience involuntarily overlapping sensations

Tasting words or seeing colors in music results from the brain retaining extrasensory connections from infancy. While most lose these neural pathways during development, about 4% of people are synesthetes, maintaining them without realizing it's unusual.

Brain implants can help colorblind people hear colors

Colorblind artist Neil Harbisson was born into a world of grey. In 2004, he had a chip installed connected to an external color frequency sensor. Once the sensor "reads" a color, it sends a signal to the chip and plays an associated sound both in and outside Harbisson's head.

More than 90% of American deaf children are born to hearing parents

The National Institute on Deafness and Other Communication Disorders have collated top statistics about hearing loss in the US including differences by age, racial groups, and other factors.

Hereditary hyperosmia is the official term for being a super-smeller

Some sniffers with this rare trait may be more sensitive to pleasant smells, while others may be more attuned to unpleasant scents. Some research suggests that certain genetic mutations are associated with a heightened sense of smell.

Wet macular degeneration affects 10%-15% of those with macular degeneration

This form of molecular degeneration refers to when excess blood vessels form in the back of the eye and damage the macula. If someone with this condition looks at straight lines, they will typically appear wavy or crooked.

New eye implant clinical trial recruiting in 2026

University of Southern California researchers have launched a phase 2b clinical trial of a stem cell implant designed to restore vision in people with advanced dry macular degeneration. Patients will be randomized to receive the stem cell implant or a simulated procedure and placebo implant. This type of larger, second-stage clinical trial is designed to confirm efficacy and dosing and to look for side effects. It's one of the stages that precedes the US Food & Drug Administration approval of a device.

Audism is institutionalized discrimination against deaf people

Promoting the idea of hearing-at-all-costs in medical and education settings has created division in the deaf community and influenced decisions about learning sign language.

Some men may be at elevated risk of inheriting tinnitus

A 2017 Swedish Twin Registry study suggests that bilateral tinnitus—when tinnitus occurs in both ears instead of just one—appears to be heritable, at least in men.

Because the retina lacks pain receptors, during a solar eclipse, those watching without protective eyewear may suffer from permanent damage without realizing it.

Watch patient stories describing life with macular degeneration

This video series features patients discussing their experiences with the disorder, family members describing caregiving, and other insights about the disease.

US macular degeneration burden is based on statistical modeling and Medicare claims

Prevalence estimates for age-related macular degeneration in the US are usually based on the Vision and Eye Health Surveillance System. Disease numbers are generated using Bayesian meta-regression (a type of statistical modeling), which pulls together information from multiple sources, including Medicare claims.

Gene therapy treats a disease by editing the disease's underlying DNA, replacing it with a functional variant.

See the global blindness burden by cause and continent.

Untreated hearing loss is linked with dementia risk

Hearing loss does not cause dementia, but it does increase the risk of developing dementia and research suggests that people who wear hearing aids for age-related hearing loss also maintain better brain function than those who don't.

The first neural devices were cochlear implants, designed to treat hearing loss

Neural interfaces connect with our nervous system to restore or enhance abilities, such as hearing or movement. These neuroprostheses have enabled the restoration of mobility, communication, and activities of daily living that might otherwise require a caregiver.

Here’s how different genetic disorders get passed on

The human genome is complex, as identified by the Human Genome Project. This article digs in to genetic disorders, the most common ones, and how they are diagnosed.

There's no cure for Ménière's disease, only medications to reduce frequency of attacks

Ménière's disease is an inner ear problem that can cause vertigo and hearing loss. Most of the time, Ménière's disease affects only one ear.

Somatic expansion, the lifelong growth of specific repeating DNA sequences, is being studied as a potential treatment target for Huntington's disease and other disorders.

Examining self-diagnosed synesthesia

A growing number of people on social media claim to have a perceptual condition that lets them smell colors, see music, or taste sounds. But do they really?

The macula is a small area in the center of the retina

This part of the eye—roughly the bullseye of the back of the eye—is responsible for processing the central vision of the eye. Degradation of the macula, formally called macular degeneration, leads to symptoms including blurred vision, the need for brighter lighting, and difficulty recognizing faces. The condition doesn't affect peripheral vision, but if you lose central vision, you can still be considered blind.

Watch how doctors examine leprosy patients for signs of vision impairment

Clinicians must screen for symptoms of eye and vision damage in leprosy patients, including loss of sensation, reduced blink reflex, and inability to close or keep the eyes closed.

There's no cure for tinnitus, but sometimes it goes away on its own

Though there's no cure, treatments and management approaches can significantly reduce symptoms and improve quality of life. Hearing aids, sound generators, and other steps can help some people with this condition. But sometimes tinnitus resolves within hours or days for reasons that remain unclear.

Mapping hearing loss in the US

Nearly 10% of Americans suffer from some degree of hearing loss, measured as the inability to hear sounds lower than 25 decibels. The incidence of hearing loss increases with age and is typically higher among men. Recent analysis produced a puzzling observation researchers can't quite explain: There's a larger incidence of hearing loss among rural populations than in urban centers. Explore the data with this map and explainer.