Synopsis
Recognise the functional pattern of inherited retinal disease, arrange a phenotypic and genomic assessment, and explain supportive care and the precise eligibility limits of currently established RPE65 gene therapy.
- Retinitis pigmentosa describes a heterogeneous group of retinal degenerations rather than one gene or one inevitable rate of sight loss.
- Difficulty in dim light and peripheral field loss can precede a major fall in central chart acuity.
- A negative family history does not exclude inherited disease.
Key red flags
Sudden new flashes, numerous floaters or a curtain of missing sight requires retinal assessment rather than routine genetic follow-up.
Investigation priorities
Characterise remaining vision and functional limitations over time.
Management branches
A patient reports progressive low-light difficulty or peripheral visual loss consistent with inherited retinal dysfunction.
- Record the time course, monocular acuity, available field findings, family history and relevant systemic features without making an unsupported gene-level diagnosis.
- Refer to ophthalmology or an inherited retinal disease service for retinal examination, imaging and electrophysiology as appropriate.
Key medicines
Voretigene neparvovec, LuxturnaThe specialist retinal surgeon gives a single subretinal dose of 1.5 × 10^11 vector genomes in 0.3 mL to each treated eye after product preparation. Treat the eyes on separate days at least six days apart; this is not an intravitreal anti-VEGF injection.
Prednisone or equivalent around LuxturnaGive prednisone or an equivalent corticosteroid orally using the UK SmPC schedule: 1 mg/kg once daily, maximum 40 mg/day, for three days before each eye and four days including its procedure day. Follow with 0.5 mg/kg once daily, maximum 20 mg/day, for five days, then 0.5 mg/kg every other day, maximum 20 mg per dose, for five days.