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Retinal Gene Therapy

Targeted gene-replacement therapy for inherited retinal dystrophies that restore visual function.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Göz Hastalıkları department. Book Appointment →

What is Retinal Gene Therapy?

Retinal gene therapy uses adeno-associated viral (AAV) vectors to deliver a functional copy of the mutated gene to retinal pigment epithelium or photoreceptors, restoring the visual cycle in selected inherited retinal dystrophies.

Voretigene neparvovec (Luxturna) is the first FDA- and EMA-approved gene therapy in ophthalmology, indicated for biallelic RPE65 mutations causing Leber congenital amaurosis type 2 and early-onset retinitis pigmentosa with documented viable retinal cells.

Treatment is delivered as a one-time subretinal injection per eye after pars-plana vitrectomy, in centers with experience in subretinal surgery; multiple investigational programs target CHM (choroideremia), RPGR (X-linked RP), USH2A, ABCA4 and optogenetic approaches.

Symptoms

Severe night blindness from early childhood
Progressive peripheral visual field loss
Reduced central visual acuity
Nystagmus in early-onset disease
Photophobia and light sensitivity
Color vision disturbance
Family history of inherited retinal dystrophy

Risk Factors

Biallelic pathogenic mutation in target gene confirmed by genetic testing
Sufficient viable retinal cells on OCT and fundus autofluorescence
Severe widespread retinal atrophy may preclude benefit
Active intraocular inflammation
Prior intravitreal therapies that complicate vector delivery
Pediatric age below approved indication
Inadequate genetic counseling and informed consent

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Childhood-onset severe night blindness
  • Family history of Leber congenital amaurosis or retinitis pigmentosa
  • Documented RPE65 or other actionable retinal-dystrophy mutation
  • Need for genetic testing and counseling
  • Evaluation for clinical trials of gene therapy
  • Pre- and post-treatment monitoring of visual function and OCT
  • Decision regarding subretinal vs intravitreal delivery

Treatment Methods

01
Comprehensive genetic testing and confirmation of biallelic pathogenic variants
02
Multimodal retinal imaging (OCT, fundus autofluorescence, electroretinography)
03
Voretigene neparvovec subretinal injection for RPE65 dystrophies
04
Pars-plana vitrectomy with controlled subretinal bleb formation
05
Perioperative oral and topical corticosteroid coverage
06
Long-term follow-up of visual function, microperimetry and full-field light sensitivity
07
Enrollment in clinical trials for non-RPE65 dystrophies and optogenetics

Which Department to Visit?

You can visit our Göz Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.