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Cone-rod dystrophy 22(CORD22)

MedGen UID:: 1794199
•Concept ID:: C5561989
•: Disease or Syndrome

Synonyms:	CONE-ROD DYSTROPHY 22; CORD22

Gene (location): Gene(s) directly associated with this condition or phenotype.	TLCD3B (16p11.2)

Monarch Initiative:	MONDO:0030440
OMIM®:	619531

Definition

Cone-rod dystrophy-22 (CORD22) is a retinal dystrophy characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life. There is significant degeneration of the macula, as well as generalized cone system involvement that predominates over rod system dysfunction, including in the peripheral retina (Bertrand et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970). [from OMIM]

Clinical features

From HPO

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.

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Absent foveal reflex

MedGen UID:: 602333
•Concept ID:: C0423420
•: Finding

Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.

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Bull eye maculopathy

MedGen UID:: 321812
•Concept ID:: C1828210
•: Finding

Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.

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Retinal pigment epithelial atrophy

MedGen UID:: 333564
•Concept ID:: C1840457
•: Finding

Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.

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Attenuation of retinal blood vessels

MedGen UID:: 480605
•Concept ID:: C3278975
•: Finding

See: Feature record | Search on this feature

Perifoveal ring of hyperautofluorescence

MedGen UID:: 892724
•Concept ID:: C4073099
•: Finding

See: Feature record | Search on this feature

Hyperautofluorescent macular lesion

MedGen UID:: 893119
•Concept ID:: C4073101
•: Finding

Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.

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Undetectable pattern electroretinogram

MedGen UID:: 900781
•Concept ID:: C4280746
•: Finding

Absent response to a pattern electroretinogram (PERG).

See: Feature record | Search on this feature

Hypoautofluorescent retinal lesion

MedGen UID:: 1369889
•Concept ID:: C4476624
•: Finding

Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.

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Abnormality of the eye
Abnormality of the nervous system
- Photophobia

Professional guidelines

PubMed

Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.

Bianco L, Arrigo A, Antropoli A, Manitto MP, Martina E, Aragona E, Bandello F, Battaglia Parodi M
JAMA Ophthalmol 2023 Sep 1;141(9):826-833. doi: 10.1001/jamaophthalmol.2023.3188. PMID: 37498587 Free PMC Article

Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.

Xiao X, Ye L, Chen C, Zheng H, Yuan J
Curr Gene Ther 2022;22(4):342-351. doi: 10.2174/1566523222666220216101539. PMID: 35170407 Free PMC Article

Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.

Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF
Acta Ophthalmol 2021 May;99(3):e402-e414. Epub 2021 Feb 2 doi: 10.1111/aos.14597. PMID: 33528094 Free PMC Article

See all (5)

Recent clinical studies

Etiology

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.

Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434 Free PMC Article

Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.

Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.

Gabrielle PH, Faivre L, Audo I, Zanlonghi X, Dollfus H, Thiadens AAHJ, Zeitz C, Mancini GMS, Perdomo Y, Mohand-Saïd S, Lizé E, Lhussiez V, Nandrot EF, Acar N, Creuzot-Garcher C, Sahel JA, Ansar M, Thauvin-Robinet C, Duplomb L, Da Costa R
Sci Rep 2021 Aug 12;11(1):16412. doi: 10.1038/s41598-021-95743-8. PMID: 34385517 Free PMC Article

An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.

Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102 Free PMC Article

Defining renal phenotype in Alström syndrome.

Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515

See all (46)

Diagnosis

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.

Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.

Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395 Free PMC Article

Defining renal phenotype in Alström syndrome.

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM
Invest Ophthalmol Vis Sci 2019 Mar 1;60(4):1192-1203. doi: 10.1167/iovs.18-26084. PMID: 30913292

See all (62)

Therapy

Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.

Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.

Lhériteau E, Petit L, Weber M, Le Meur G, Deschamps JY, Libeau L, Mendes-Madeira A, Guihal C, François A, Guyon R, Provost N, Lemoine F, Papal S, El-Amraoui A, Colle MA, Moullier P, Rolling F
Mol Ther 2014 Feb;22(2):265-277. Epub 2013 Oct 4 doi: 10.1038/mt.2013.232. PMID: 24091916 Free PMC Article

Intravitreal injection of autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy: a phase I trial.

Siqueira RC, Messias A, Voltarelli JC, Scott IU, Jorge R
Retina 2011 Jun;31(6):1207-14. doi: 10.1097/IAE.0b013e3181f9c242. PMID: 21293313

See all (3)

Prognosis

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.

Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.

Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251

An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693 Free PMC Article

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

See all (31)

Clinical prediction guides

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.

Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.

Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251

An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693 Free PMC Article

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

See all (43)

Recent systematic reviews

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Wang Y, Sun W, Zhou J, Li X, Jiang Y, Li S, Jia X, Xiao X, Ouyang J, Wang Y, Zhou L, Long Y, Liu M, Li Y, Yi Z, Wang P, Zhang Q
Invest Ophthalmol Vis Sci 2022 May 2;63(5):28. doi: 10.1167/iovs.63.5.28. PMID: 35608843 Free PMC Article

See all (1)

MedGen

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Cone-rod dystrophy 22(CORD22)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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