Titlebook: Inherited Retinal Disease; Hyeong-Gon Yu Book 2022 Springer Nature Singapore Pte Ltd. 2022 Inherited retinal disease.retinitis pigmentosa.

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Congenital Stationary Night Blindness,3]. Other associated abnormalities are color vision defect, nystagmus, photophobia, strabismus, refractive error, and fundus abnormality [4, 5]. Clinical presentation may appear differently depending on the causative gene.

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https://doi.org/10.1007/978-981-16-7337-5Inherited retinal disease; retinitis pigmentosa; retinal dystrophy; genetic diagnosis; molecular genetic

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Hyeong-Gon YuUpdates on clinical features and molecular diagnosis.Cases contributed by global leaders in the field.Clinical photographs obtained with newer imaging techniques.Many images of rare but clinically imp

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Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy,al diseases with widely overlapping features. Herein we present in a comprehensive and concise manner the clinical features, molecular genetics, treatment principles, novel treatment methods, and retinal imaging findings of LCA/EOSRD, emphasizing in some of the most common genotypes: ., ., ., ., ., ., ., and

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Cone Dystrophy/Cone-Rod Dystrophy,earance. The loss of cones leads to predominant symptoms such as decreased visual acuity, color vision defects and day blindness. Cone dystrophies are genetically heterogeneous and can be inherited by autosomal recessive, autosomal dominant or X-linked recessive patterns.

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