Inherited retinal diseases (retinitis pigmentosa and others)

Overview

These diseases affect the light-sensing cells in the retina.

Gene therapy is available for one type (RPE65).

Symptoms

Common signs:

• Vision loss
• Trouble seeing in dim light or at night, or low vitamin A
• Losing side (peripheral) vision

Less common

• Night blindness
• Glare sensitivity

When to get medical care

Causes

Genes.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Gene test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Low-vision aids
• Use bright lighting
• Get mobility training

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to an ophthalmologist (eye doctor and surgeon).

Living with it

Support groups and helplines

• American Foundation for the Blind: Help for people with vision loss and their families.
• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Families: Genetic testing helps.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Low-vision aids help daily life.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Inherited retinal diseases (retinitis pigmentosa and others)