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Cone-rod dystrophy and hearing loss 1(CRDHL1)

MedGen UID:
1682048
•Concept ID:
C5193018
•
Disease or Syndrome
Synonym: CRDHL1
 
Gene (location): CEP78 (9q21.2)
 
Monarch Initiative: MONDO:0020778
OMIM®: 617236

Definition

Cone-rod dystrophy and hearing loss-1 (CRDHL1) is characterized by relatively late onset of both ocular and hearing impairment. The funduscopic findings are characteristic, showing ring-shaped atrophy along the major vascular arcades that manifests on fundus autofluorescence as a hypoautofluorescent band along the vascular arcades surrounded by hyperautofluorescent borders (Namburi et al., 2016). Genetic Heterogeneity of Cone-Rod Dystrophy and Hearing Loss CRDHL2 (618358) is caused by mutation in the CEP250 gene (609689) on chromosome 20q11. [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
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
Hemeralopia
MedGen UID:
42391
•Concept ID:
C0018975
•
Disease or Syndrome
A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.
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Macular degeneration
MedGen UID:
7434
•Concept ID:
C0024437
•
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
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Nystagmus
MedGen UID:
45166
•Concept ID:
C0028738
•
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
See: Feature record | Search on this feature
Retinal atrophy
MedGen UID:
101075
•Concept ID:
C0521694
•
Disease or Syndrome
Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
See: Feature record | Search on this feature
Dyschromatopsia
MedGen UID:
163559
•Concept ID:
C0858618
•
Disease or Syndrome
A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.
See: Feature record | Search on this feature
Visual impairment
MedGen UID:
777085
•Concept ID:
C3665347
•
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Oh JK, Vargas Del Valle JG, Lima de Carvalho JR Jr, Sun YJ, Levi SR, Ryu J, Yang J, Nagasaki T, Emanuelli A, Rasool N, Allikmets R, Sparrow JR, Izquierdo NJ, Duncan JL, Mahajan VB, Tsang SH
Orphanet J Rare Dis 2022 Apr 1;17(1):146. doi: 10.1186/s13023-022-02295-9. PMID: 35365235Free PMC Article
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Murch O, Jain V, Benneche A, Metcalfe K, Hobson E, Prescott K, Chandler K, Ghali N, Carmichael J, Foulds NC, Paulsen J, Smeland MF, Berland S, Fry AE
Eur J Hum Genet 2022 Jan;30(1):95-100. Epub 2021 Oct 14 doi: 10.1038/s41431-021-00961-3. PMID: 34645992Free PMC Article
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I
Retina 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. PMID: 31479088
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

Diagnosis

Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
Miranda V, Cortez L, Rosmaninho-Salgado J, Ramos F, Paiva C
J Pediatr Ophthalmol Strabismus 2024 Jan-Feb;61(1):59-66. Epub 2023 Apr 24 doi: 10.3928/01913913-20230220-01. PMID: 37092661
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Oh JK, Vargas Del Valle JG, Lima de Carvalho JR Jr, Sun YJ, Levi SR, Ryu J, Yang J, Nagasaki T, Emanuelli A, Rasool N, Allikmets R, Sparrow JR, Izquierdo NJ, Duncan JL, Mahajan VB, Tsang SH
Orphanet J Rare Dis 2022 Apr 1;17(1):146. doi: 10.1186/s13023-022-02295-9. PMID: 35365235Free 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
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I
Retina 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. PMID: 31479088
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

Therapy

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.
Wu S, Yuan Z, Sun Z, Yao F, Sui R
Am J Med Genet A 2022 Mar;188(3):948-952. Epub 2021 Nov 25 doi: 10.1002/ajmg.a.62582. PMID: 34821467
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

Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23.
Dhoble P, de Guimarães TAC, Webster AR, Michaelides M
Ophthalmic Genet 2024 Oct;45(5):516-521. Epub 2024 Aug 2 doi: 10.1080/13816810.2024.2362210. PMID: 39092760
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
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I
Retina 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. PMID: 31479088
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
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

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Murch O, Jain V, Benneche A, Metcalfe K, Hobson E, Prescott K, Chandler K, Ghali N, Carmichael J, Foulds NC, Paulsen J, Smeland MF, Berland S, Fry AE
Eur J Hum Genet 2022 Jan;30(1):95-100. Epub 2021 Oct 14 doi: 10.1038/s41431-021-00961-3. PMID: 34645992Free 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
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.
Roberts L, Julius S, Dawlat S, Yildiz S, Rebello G, Meldau S, Pillay K, Esterhuizen A, Vorster A, Benefeld G, da Rocha J, Beighton P, Sellars SL, Thandrayen K, Pettifor JM, Ramesar RS
Hum Mutat 2020 Nov;41(11):1871-1876. Epub 2020 Sep 9 doi: 10.1002/humu.24094. PMID: 32827185
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I
Retina 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. PMID: 31479088
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

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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
    • PubMed
      Related literature resources in PubMed

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