← All diseases

Eye and hearing diseases

Leber congenital amaurosis (LCA)

An inherited retinal disease with severe vision loss that begins in infancy. The retina is the light-sensing layer at the back of the eye. It is one of the main causes of inherited severe vision loss in babies.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Eye and hearing diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The light cells in the retina do not work properly from birth. Because of this, vision is severely affected in the first year of life. More than 20 genes can cause the disease. In some types, vision stays the same for years; in others it gets worse over time.

Which symptoms can occur?

The first sign is that the baby reacts little to what it sees.

  • Severe vision loss in infancy
  • Involuntary shaking of the eyes, called nystagmus
  • Sensitivity to light
  • Pupils reacting slowly or not at all to light
  • Squint
  • A habit of pressing and rubbing the eyes with the fingers
  • Strong hyperopia, which means not being able to see near objects clearly
  • Cataract or thinning and bulging of the cornea, called keratoconus (sometimes)

How is it diagnosed?

The doctor examines the baby's visual responses and eye movements. An ERG test measures how the retina responds to light; in LCA this response is very small or absent. A genetic test confirms the diagnosis and helps to determine treatment options.

Treatment and care

There is an approved gene therapy for people with two changes in the RPE65 gene. This treatment is given under the retina with surgery. Gene therapy and other methods are being studied for the other types. Low vision aids, glasses or lenses, and early educational support are important. Reducing eye rubbing can help protect the cornea. If there are kidney or hearing problems, these are also followed up. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is usually inherited recessively. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. This chance can be higher when parents are related by blood. Less often it is inherited in a dominant way; then the chance of passing it from an affected parent to a child is 1 in 2. A genetic test also shows whether gene therapy is suitable. Genetic counselling is recommended for families.

Source: MedlinePlus Genetics: Leber congenital amaurosis · NORD: Leber Congenital Amaurosis · Orphanet: Leber congenital amaurosis (ORPHA:65)

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide)
When does it usually start?
Infancy, Newborn period
Gene(s) involved
PRPH2, RD3, RDH12, RPE65, RPGRIP1, CABP4

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about LCA

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 9 active interventional studies for this disease. 1 is recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Eye and hearing diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:65

No separate ICD-11 code; WHO classifies this disease under: 9B70

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.