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RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep
Michalis Georgiou1, Kaoru Fujinami2, Anthony G Robson3
1From Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK; Jones Eye Institute (M.G., A.F.S., M.H.J., S.H.U.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
RBP3-retinopathy is a rare genetic disorder causing early-onset high myopia and retinal dystrophy. This study details its clinical features and slow, decades-long progression, offering insights for diagnosis and counseling.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- RBP3-associated retinopathy is a rare genetic disorder.
- Understanding its clinical and genetic features is crucial for diagnosis and management.
Purpose of the Study:
- To examine the genetic and clinical features of RBP3-associated retinopathy.
- To describe the natural history of this condition.
Main Methods:
- A multi-center, international, retrospective case series.
- Analysis of genetic, clinical, and retinal imaging data (OCT, FAF, ERG, PERG).
Main Results:
- 12 patients with molecularly confirmed RBP3-retinopathy were studied.
- All patients had high myopia (mean -16.0D) and early-onset symptoms.
- Longitudinal data showed slow progression over decades with variable retinal changes.
Conclusions:
- RBP3-retinopathy presents with early-onset, high myopia, and retinal dystrophy.
- The study provides the largest cohort to date, detailing the phenotypic spectrum and natural history.
- Consider RBP3-related disease in children with high myopia and retinal dystrophy.
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