Ophthalmic Genetics

Ophthalmic genetics is the service that diagnoses and advises on inherited eye conditions. Many eye diseases are caused by changes in single genes, including retinitis pigmentosa, Stargardt disease, Leber congenital amaurosis, some childhood cataracts and glaucomas, corneal dystrophies, albinism, aniridia and the eye cancer retinoblastoma. More than 250 genes are known for inherited retinal disease alone.

A precise genetic diagnosis clarifies the outlook, shows who else in the family is at risk, supports family planning, and determines eligibility for gene-specific treatment or trials. For most of these conditions there is still no cure, so the value lies in accurate information, surveillance and support rather than in a treatment.

Bedingungen, die dieser Service betreut

• Retinitis pigmentosa and rod-cone dystrophies
• Stargardt disease and other macular dystrophies
• Leber congenital amaurosis and early-onset retinal dystrophy
• Cone dystrophy and achromatopsia
• Leber hereditary optic neuropathy and dominant optic atrophy
• Congenital cataract and congenital glaucoma
• Corneal dystrophies
• Retinoblastoma
• Albinism and aniridia
• Syndromes with eye involvement, such as Usher, Bardet-Biedl and Marfan syndromes

Tests, die Ihnen möglicherweise angeboten werden

• Family history and pedigree: A three-generation family tree indicates the likely inheritance pattern.
• Detailed clinical phenotyping: OCT, fundus autofluorescence, widefield imaging and visual fields narrow down the candidate genes.
• Electrophysiology (ERG, EOG, VEP): Measures rod, cone and optic nerve function objectively.
• Gene panel or exome sequencing: A blood or saliva test. Results take about 4 to 12 weeks and find the cause in roughly 60 to 70 percent of inherited retinal disease.
• Family segregation testing: Testing relatives to confirm whether a variant is truly responsible.
• Hearing, kidney or other assessments: When a syndrome is suspected.

Behandlungen verfügbar

• Genetic counselling: Explains results, inheritance, risks to children and relatives, and reproductive options including preimplantation testing.
• Gene therapy for RPE65 disease: The only approved ocular gene therapy; limited to people with two faulty RPE65 copies and enough surviving retinal cells.
• Idebenone for Leber hereditary optic neuropathy: Approved in some regions; benefit is modest and variable.
• Treatment of complications: Cataract surgery, and drops or injections for macular oedema in retinitis pigmentosa.
• Surveillance: Screening schedules for children at risk of retinoblastoma and for family members who carry a variant.
• Low vision support and trial matching: Practical help now, and a route into research studies.

Wann Sie eine Fachmeinung einholen sollten

• Night blindness or tunnel vision starting in youth
• Several relatives with early sight loss, or parents who are related to each other
• A baby with nystagmus, poor visual attention or a white pupil reflex, which is urgent
• Unexplained central vision loss in a young person
• Planning a family when there is known inherited eye disease
• A clinical diagnosis made years ago without genetic confirmation

Reisen nach Türkiye für diese Pflege

A single visit can cover the clinical work-up, imaging, electrophysiology and blood sampling in 1 to 2 days. Results arrive weeks later, so the counselling session is usually done by video. Ask in advance which laboratory is used, whether variants are classified to international standards, and whether the report will be in English for your doctors at home. Long-term monitoring, certification and support services belong in your own country. Children with suspected retinoblastoma need urgent care at the nearest specialist centre.

Senden Sie Ihre Berichte, Scans und eine kurze Geschichte und eine Clinic-Y Koordinator Antworten innerhalb von 24 Stunden mit geeigneten Teams und schriftlich, All-inclusive Vorschläge nebeneinander. Die Überprüfung Ihres Falls ist kostenlos.

Häufig gestellte Fragen