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Condition report · Ophthalmological

Cone-Rod Dystrophy and Hearing Loss 2 (CEP250)

A rare inherited condition combining progressive hearing loss with a retinal condition that gradually reduces sight, sometimes called atypical Usher syndrome. It is caused by changes in both copies of the CEP250 gene.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of CEP250, which encodes a centrosome and cilia-related protein used by light-sensing cells of the retina and hair cells of the inner ear.

Signs and symptoms

Sensorineural hearing loss, often starting in childhood, and a cone-rod dystrophy that causes reduced central vision, light sensitivity and colour vision difficulties are typical. Vision and hearing problems usually progress slowly, and severity varies between families.

What a diagnosis changes

Regular eye and hearing review, with hearing aids, low-vision aids and educational support as needed. Carrier testing of relatives and genetic counselling are available.

Genes analysed

Also known as

CRDHL2

MONDO:0020780OMIM 618358MedGen 1675017Sources: [1][3][2]

References

  1. Kubota D, Gocho K, Kikuchi S, Akeo K, Miura M, Yamaki K et al., 2019. CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. Ophthalmic genetics
  2. Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL et al., 2022. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. Ophthalmic genetics
  3. Kang M, Kim JA, Song MH, Joo SY, Kim SJ, Jang SH et al., 2026. Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss. Cells

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