Inherited Eye Diseases: The Importance of Early Diagnosis

March 04, 2024

University Hospitals Rainbow Babies & Children'sExperts in Children's Health

Close-up image of a human eye depicting a cataract clouding of the lens

Many eye diseases tend to run in families. In fact, recent studies have identified more than 350 eye diseases with a hereditary link.

“Most eye diseases have a genetic component,” says University Hospitals ophthalmologist Shree Kurup, MD, and ophthalmology resident Robin Su, MD, PhD. “But other factors also contribute to eye disease and vision loss. Thanks to accelerating advances in genetic studies, we have more hope than ever before for treating eye disease. However, like any health concern, early diagnosis is critical to successful treatment.”

Causes of Eye Disease

Genetic mutations can affect any part of the eye: the cornea, pupil, lens, retina or optic nerve. In addition to family history, a variety of other factors can contribute to eye disease. These include age, diet, overall health, and environmental exposures such as smoking, ultraviolet light, and certain chemicals and drugs that cause degenerative changes in the eye.

Glaucoma, a disease which is driven largely by genes, can be worsened by smoking.
Age-related macular degeneration, AMD, has a mix of causes. It is associated with age, genetics, diet, smoking, and other health issues such as obesity and cholesterol levels.
Nearsightedness (myopia) is on the rise in children younger than 15. While the condition tends to run in families, Dr. Kurup and Dr. Su believe the recent increase is related to how much time children are spending on screens and reading in low light.

Symptoms of Hereditary Eye Disease

Some hereditary eye diseases progress slowly, while others appear at a very young age. Many result in vision reduction. Diseases that involve the retina, cornea or optic nerve can lead to significant vision loss.

Common eye diseases include color blindness, macular degeneration, glaucoma and Fuch’s (corneal) dystrophy. Although a large number of hereditary eye diseases and conditions have been identified, many of them remain rare.

When to Get Screened for Hereditary Eye Disease

A doctor should examine and track young children for proper eye health, development and vision. Every year, children should be checked for vision changes. In addition, early ophthalmology care is vital if you have health issues such as diabetes or high blood pressure that increase the risk for eye disease.

At all ages, from teens to senior adults, monitor for changes in vision:

Dark spots
Poor focus or blurriness
Cloudiness
Flashes of light
Floaters or wavy lines
Difficulty adjusting to different amounts of light
Pain

“You should be able to have clear 20/20 vision, with corrective lenses if necessary, and have the same quality of vision you experienced previously,” says Dr. Kurup and Dr. Su. “If your vision changes and you don’t see 20/20 even with corrective lenses, you need to see an ophthalmologist.”

The Value of Early Diagnosis

A wide range of vision tests are available to diagnose eye diseases. Based on your symptoms, genetic testing may be recommended. For many conditions including glaucoma and AMD, eyedrops, ointments, medications, injections or surgery can treat or slow the progression of eye disease, especially in early stages.

“For example, in the early stages of Fuch’s disease, eyedrops or ointments can be used relieve symptoms like blurry vision. However, treatment at advanced stages requires a surgery with a corneal transplant. In certain forms of macular degeneration, injections may actually improve vision. We want to treat eye disease before too much damage is done,” Dr. Kurup and Dr. Su explain.

“If you have inherited eye disease, there are new medications, stem cell and gene therapy, and other approaches still emerging. But don’t wait. An early diagnosis and treatment always offers a better outcome.”