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Finally, we briefly review the current management of these disorders.
The cone dysfunction syndromes (CDS) are a collection of heterogeneous inherited conditions, both in terms of their clinical characteristics and molecular genetic basis.
These observations have significant implications for anticipated gene therapy clinical trial design in terms of patient selection and monitoring efficacy.
Given that these disease characteristics have an early onset and severely impair important behaviours of daily living such as facial recognition, reading and daylight vision, the consequent debilitating impact on patients’ lives is considerable.
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and varying degrees of colour vision abnormalities, nystagmus and photophobia.
This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia and Bornholm eye disease.
Disease-causing sequence variants in these genes have been estimated to account for approximately 90% of ACHM cases.11 The first discovered, and most common, of these genes are mutations were first identified in a population of Micronesian islanders where the prevalence of complete ACHM was up to 3000 times that of other general populations; this was thought to be due to a typhoon that devastated the island in the 18th century,14 with all affected islanders able to trace their ancestry to a single typhoon survivor.13 Mutations in these two genes account for approximately 80% of all complete ACHM cases.2 , suggesting that mutations that compromise the structural and functional integrity of the CNGA3 α-subunits are less well tolerated.
Disease-causing variants have been subsequently identified in (chronological order) 24 Spectral-domain optical coherence tomography (SD-OCT) imaging reveals a wide spectrum of photoreceptor integrity, ranging from a continuous inner segment ellipsoid (ISe) band at the fovea to outer retinal atrophy, and these findings have been both qualitatively and quantitatively assessed.23–28 Adaptive optics scanning light ophthalmoscopy (AOSLO) allows direct visualisation of individual human cone and rod photoreceptors in vivo30 and has identified residual cone structure in the majority of ACHM subjects imaged, although most of the cones have reduced reflectance and many ‘dark’ spaces are observed in the photoreceptor mosaic.23 32 More recently, split detection (non-confocal) imaging techniques have been coupled with existing AOSLO in order to visualise inner segment structure within the majority of the aforementioned ‘dark’ spaces seen on confocal AOSLO.33 These imaging results support the idea that cone structure in ACHM is disrupted, but not absent, and the degree of residual cone structure is highly variable between patients.