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Cone-rod dystrophy and hearing loss 2(CRDHL2)

MedGen UID:: 1675017
•Concept ID:: C5193051
•: Disease or Syndrome

Synonym:	CRDHL2

Gene (location): Gene(s) directly associated with this condition or phenotype.	CEP250 (20q11.22)

Monarch Initiative:	MONDO:0020780
OMIM®:	618358

Definition

Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss (Kubota et al., 2018). For a discussion of genetic heterogeneity of cone-rod dystrophy and hearing loss, see CRDHL1 (617236). [from OMIM]

Clinical features

From HPO

High-frequency sensorineural hearing impairment

MedGen UID:: 867405
•Concept ID:: C4021775
•: Disease or Syndrome

A form of sensorineural hearing impairment that affects primarily the higher frequencies.

See: Feature record | Search on this feature

Photophobia

MedGen UID:: 43220
•Concept ID:: C0085636
•: Sign or Symptom

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.

See: Feature record | Search on this feature

Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of the eye
- Reduced visual acuity
Abnormality of the nervous system
- Photophobia
Ear malformation
- High-frequency sensorineural hearing impairment

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCone-rod dystrophy and hearing loss
- CROGVCone-rod dystrophy and hearing loss 1
- CROGVCone-rod dystrophy and hearing loss 2

Cone-rod dystrophy and hearing loss
- Cone-rod dystrophy and hearing loss 2

Recent clinical studies

Etiology

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.

Smirnov VM, Nassisi M, Mohand-Saïd S, Bonnet C, Aubois A, Devisme C, Dib T, Zeitz C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I
Invest Ophthalmol Vis Sci 2022 Apr 1;63(4):25. doi: 10.1167/iovs.63.4.25. PMID: 35481838 Free PMC Article

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium
Invest Ophthalmol Vis Sci 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2. PMID: 33938912 Free PMC Article

Ciliopathy: Usher Syndrome.

Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. PMID: 30578505

Alteration of rod and cone function in children with Usher syndrome.

Malm E, Ponjavic V, Möller C, Kimberling WJ, Stone ES, Andréasson S
Eur J Ophthalmol 2011 Jan-Feb;21(1):30-8. doi: 10.5301/ejo.2010.5433. PMID: 20544672

Alström syndrome.

Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

See all (10)

Diagnosis

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.

Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V
HGG Adv 2023 Oct 12;4(4):100229. Epub 2023 Aug 7 doi: 10.1016/j.xhgg.2023.100229. PMID: 37654703 Free PMC Article

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, Rad A, Doll J, Hofrichter MAH, Koparir A, Röder T, Han S, Sabbaghi H, Ahmadieh H, Behboudi H, Villanueva-Mendoza C, Cortés-Gonzalez V, Zamora-Ortiz R, Kohl S, Kuehlewein L, Darvish H, Alehabib E, Arenas-Sordo ML, Suri F, Vona B, Haaf T
Hum Genet 2022 Apr;141(3-4):785-803. Epub 2021 Jun 20 doi: 10.1007/s00439-021-02303-1. PMID: 34148116 Free PMC Article

Ciliopathy: Alström Syndrome.

Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. PMID: 30578508

Alström syndrome.

Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

Retinitis pigmentosa inversa.

Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

See all (31)

Therapy

Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.

Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N
Ophthalmic Genet 2014 Jun;35(2):119-24. Epub 2013 May 2 doi: 10.3109/13816810.2013.793363. PMID: 23638917

Retinitis pigmentosa inversa.

Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

See all (2)

Prognosis

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Alteration of rod and cone function in children with Usher syndrome.

Malm E, Ponjavic V, Möller C, Kimberling WJ, Stone ES, Andréasson S
Eur J Ophthalmol 2011 Jan-Feb;21(1):30-8. doi: 10.5301/ejo.2010.5433. PMID: 20544672

Alström syndrome.

Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

Retinitis pigmentosa inversa.

Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

See all (11)

Clinical prediction guides

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Macular dystrophy in Heimler syndrome.

Lima LH, Barbazetto IA, Chen R, Yannuzzi LA, Tsang SH, Spaide RF
Ophthalmic Genet 2011 Jun;32(2):97-100. Epub 2011 Mar 2 doi: 10.3109/13816810.2010.551797. PMID: 21366429 Free PMC Article

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ
Hum Mutat 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. PMID: 17301963

Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.

Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM
Ophthalmology 1999 Jun;106(6):1101-8. doi: 10.1016/S0161-6420(99)90244-0. PMID: 10366077

See all (8)

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Cone-rod dystrophy and hearing loss 2(CRDHL2)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

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