Abstract
Hereditary choroidal dystrophies include central areolar choroidal dystrophy, gyrate atrophy of the choroid and retina, choroideremia, etc. Although traditionally these conditions have been classified as choroidal dystrophies, the primary pathogenic process is thought to occur in the retinal pigment epithelium, not in the choroid. The underlying genetic causes result in the degeneration of both the RPE and choroid. In gyrate atrophy, dietary modifications to lower ornithine levels may slow the progression of chorioretinal atrophy and improve cystoid macular edema. For the treatment of choroideremia, clinical trial of gene therapy using adeno-associated viral vector encoding REP1 is currently underway.
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Kim, S.J. (2022). Hereditary Choroidal Dystrophy. In: Yu, HG. (eds) Inherited Retinal Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7337-5_16
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DOI: https://doi.org/10.1007/978-981-16-7337-5_16
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