CRX associated retinal dystrophies are rare?
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CRX-associated retinal dystrophies are considered rare based on the available literature. Studies have highlighted the clinical characteristics and genetic variants associated with CRX-related retinal dystrophies. These dystrophies can present with diverse phenotypes, including cone-rod dystrophy, macular dystrophy, Leber congenital amaurosis, and retinitis pigmentosa. Additionally, novel clinical presentations of CRX rod-cone dystrophy have been reported, emphasizing the importance of thorough evaluation in cases with atypical features. Optical coherence tomography findings in CRB1-associated retinal dystrophies further contribute to the understanding of these rare conditions, showcasing vascular alterations in affected eyes. Overall, the rarity of CRX-associated retinal dystrophies underscores the need for further research to elucidate genotype-phenotype correlations and improve diagnostic and therapeutic approaches.
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| Not addressed in the paper. | |
| Yes, CRX-associated retinal dystrophies are rare, as indicated by the study's focus on a continuum between common and rare genetic variations impacting retinal structure and disease. | |
| CRX-associated retinal dystrophies, like the novel presentation described, are rare but can manifest with unique clinical features such as optic nerve swelling and cystoid maculopathy, as shown in the study. | |
| CRX-associated retinal dystrophies are relatively rare, accounting for 1.7% of Leber congenital amaurosis, 1.8% of cone-rod dystrophy, and 1.7% of non-syndromic retinitis pigmentosa cases. |
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