Abstract
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction. These disorders typically present with severe vision loss that can be progressive, with disease onset ranging from congenital to late adulthood. The advances in genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRDs, with the first approved gene therapy and the commencement of multiple clinical trials. The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Leber congenital amaurosis, (5) rod-cone dystrophies, (6) rod dysfunction syndromes and (7) chorioretinal dystrophies. We also briefly summarise the investigated end points for the ongoing trials.
Highlights
We have recently reviewed the retinal imaging findings of Inherited retinal diseases (IRDs),[7] and the clinical phenotypes of: (1) macular dystrophies,[8] (2) cone dystrophy (COD) and cone-rod dystrophy (CORD),[9] (3) cone dysfunction syndromes[2] and (4) LEBER CONGENITAL AMAUROSIS (LCA)/ EARLY-ONSET SEVERE RETINAL DYSTROPHY (EOSRD).[10]
Whole genome sequencing offers a comprehensive alternative for undiagnosed patients, but may be currently rejected in favour of targeted genome re-sequencing due to cost and efficiency
The growing field of clinical genetics has significantly contributed towards targeted screening, as well as for patient counselling and advice on prognosis
Summary
Animal models demonstrate a fast degeneration of the rods and early studies with subretinal AAV in a murine model had limited efficacy.[111] In slower degenerating mouse line and in dogs, with early treatment, a greater efficacy was observed.[112,113] In humans there is preservation of foveal structure and loss of the surrounding (rod dominated) retina, with significant constriction of the visual field.[114] A phase 1/2 trial (NCT03328130) is ongoing, employing AAV2/5-hPDE6B to explore rod-directed gene augmentation.
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