Eye and hearing diseases
Severe hearing loss present from birth, caused by a change in the OTOF gene.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Eye and hearing diseases” group.
The OTOF gene makes a protein called otoferlin. This protein allows signals to pass from the hearing cells in the inner ear to the hearing nerve. When the gene is changed, the hearing cells work, but the signal cannot pass to the nerve. This is called auditory synaptopathy.
In most children, the hearing loss is present from birth or begins before speech is learned.
Some newborn hearing screenings measure the echo coming from the inner ear (OAE test). In these children, this test is often normal. The brainstem hearing test (ABR), however, is abnormal. The diagnosis is confirmed with a genetic test that shows two changes in the OTOF gene.
Early hearing support is very important for speech and language development. Hearing aids often do not help enough. A cochlear implant can help because it stimulates the hearing nerve directly. There is also gene therapy for people who meet certain conditions. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on through recessive inheritance; the mother and father are usually carriers. In each pregnancy of carrier parents, the chance is 25%. Testing brothers and sisters without symptoms soon after birth, and genetic counselling, are recommended.
Source: GeneReviews – OTOF-Related Hearing Loss · MedlinePlus Genetics – Nonsyndromic hearing loss
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
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.
For all rare diseases: Nadir Hastalıklar Federasyonu
Links checked on October 8, 2026.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
USANew treatments and approvals
The US Food and Drug Administration approved the first gene therapy for severe hearing loss caused by the OTOF gene.
GlobalResearch and clinical trials
In a study run by the Karolinska Institutet and centers in China, 10 patients aged 1–24 years received a gene therapy delivering a functional OTOF gene into the inner ear.
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.
Questions you can ask your doctor
ClinicalTrials.gov lists 5 active interventional studies for this disease. 3 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)RecruitingNCT05788536
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)RecruitingNCT07288580
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)Active, not recruitingNCT06370351
Non-drug study (device, procedure, care, etc.)RecruitingNCT06722170
Non-drug study (device, procedure, care, etc.)Active, not recruitingNCT07752888
See all studies on ClinicalTrials.gov · Joining clinical trials
TürkiyeSGK and reimbursement
A drug used for a rare disease affecting the optic nerve has been added to reimbursement coverage.
USAResearch and clinical trials
A two-year, placebo-controlled study was carried out at 7 centers in the USA.
TürkiyeResearch and clinical trials
Gazi University studied the eyes of 27 children.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
International rare disease database: Orphanet
No separate ICD-11 code; WHO classifies this disease under: AB50 (Congenital hearing impairment)
Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.