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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): 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
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J 3rd, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW
Genes (Basel) 2022 Aug 20;13(8) doi: 10.3390/genes13081490. PMID: 36011402Free PMC Article
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: 35481838Free 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

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: 37654703Free PMC Article
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: 35481838Free 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: 34148116Free 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

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

Prognosis

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: 37654703Free 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: 34148116Free PMC Article
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

Clinical prediction guides

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: 37654703Free 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: 33938912Free PMC Article
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: 21366429Free PMC Article
High-resolution spectral domain optical coherence tomography images of Alström syndrome.
Vingolo EM, Salvatore S, Grenga PL, Maffei P, Milan G, Marshall J
J Pediatr Ophthalmol Strabismus 2010 May 21;47 Online:e1-3. doi: 10.3928/01913913-20100507-05. PMID: 21158358Free PMC Article
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

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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