Cone-rod dystrophy and hearing loss

Definition:

Cone-rod dystrophy and hearing loss is an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss. It has been reported that bi-allelic truncating mutations in CEP78 cause this disease.

References:

[1]. Carla Fuster-García, et al. High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. Sci Rep. 2018 Nov 20;8(1):17113. [Content Brief]

[2]. Konstantinos Nikopoulos, et al. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. Am J Hum Genet. 2016 Sep 1;99(3):770-776. [Content Brief]

[3]. Prasanthi Namburi, et al. Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. Am J Hum Genet. 2016 Sep 1;99(3):777-784. [Content Brief]

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