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Corneal dystrophy-perceptive deafness syndrome(CDPD)

MedGen UID:
387858
•Concept ID:
C1857572
•
Disease or Syndrome
Synonyms: CDPD; Congenital corneal dystrophy, progressive sensorineural deafness; Corneal dystrophy and perceptive deafness; CORNEAL DYSTROPHY AND SENSORINEURAL DEAFNESS; HARBOYAN SYNDROME
SNOMED CT: Corneal dystrophy and perceptive deafness syndrome (720749004); Corneal dystrophy with progressive deafness (720749004); Harboyan syndrome (720749004); Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (720749004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SLC4A11 (20p13)
 
Monarch Initiative: MONDO:0009015
OMIM®: 217400
Orphanet: ORPHA1490

Definition

Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive sensorineural deafness, and is transmitted as an autosomal recessive trait (summary by Desir et al., 2007). [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
Corneal dystrophy
MedGen UID:
3619
•Concept ID:
C0010036
•
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
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
Opacification of the corneal stroma
MedGen UID:
602191
•Concept ID:
C0423250
•
Finding
Reduced transparency of the stroma of cornea.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCorneal dystrophy-perceptive deafness syndrome
Follow this link to review classifications for Corneal dystrophy-perceptive deafness syndrome in Orphanet.

Professional guidelines

PubMed

French protocol for diagnosis and management of Cogan's syndrome.
Arnaud L, Audemard-Verger A, Belot A, Bienvenu B, Burillon C, Chasset F, Chaudot F, Darbon R, Delmotte A, Ebbo M, Espitia O, Fauchais AL, Guedon AF, Hachulla E, Hadjadj J, Hautefort C, Jachiet V, Mamelle E, Martin M, Muraine M, Papo T, Pouchot J, Pugnet G, Sève P, Zenone T, Mekinian A; contributors
Rev Med Interne 2025 Feb;46(2):74-88. Epub 2024 Oct 24 doi: 10.1016/j.revmed.2024.09.007. PMID: 39455380
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC
Orphanet J Rare Dis 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. PMID: 23642083Free PMC Article

Recent clinical studies

Etiology

Newborn Glaucoma: A Neglected Manifestation of Congenital Rubella Syndrome.
Kaushik S, Choudhary S, Dhingra D, Singh MP, Gupta G, Arora A, Thattaruthody F, Pandav SS
Ophthalmol Glaucoma 2022 Jul-Aug;5(4):428-435. Epub 2021 Dec 24 doi: 10.1016/j.ogla.2021.12.005. PMID: 34954410
Reduced Corneal Sensitivity With Neuronal Degeneration is a Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Bartosiewicz K, Studzian M, Pułaski Ł, Braun M, Ivask M, Koks S, Jurowski P, Młynarski W
Am J Ophthalmol 2022 Apr;236:63-68. Epub 2021 Oct 26 doi: 10.1016/j.ajo.2021.09.030. PMID: 34710353
Corneal Abnormalities Are Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Braun M, Zielonka E, Ivask M, Koks S, Jurowski P, Młynarski W
Am J Ophthalmol 2020 Sep;217:140-151. Epub 2020 Apr 23 doi: 10.1016/j.ajo.2020.04.012. PMID: 32335055
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC
Orphanet J Rare Dis 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. PMID: 23642083Free PMC Article
Do you know this syndrome?
Enei ML, Cassettari A, Córdova S, Torres O, Paschoal F
An Bras Dermatol 2011 Jul-Aug;86(4):819-21. doi: 10.1590/s0365-05962011000400037. PMID: 21987161

Diagnosis

Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection.
Loveridge-Easther C, Kiray G, Hull S, Vincent AL
Ophthalmic Genet 2022 Oct;43(5):685-688. Epub 2022 Jun 7 doi: 10.1080/13816810.2022.2083182. PMID: 35672901
Harboyan Syndrome.
Javaid A, Orakzai AA
J Ayub Med Coll Abbottabad 2020 Oct-Dec;32(Suppl 1)(4):S701-S703. PMID: 33754535
Ocular manifestations of genetic skin disorders.
Jen M, Nallasamy S
Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2 doi: 10.1016/j.clindermatol.2015.11.008. PMID: 26903188
Waardenburg syndrome--a case report.
Bansal Y, Jain P, Goyal G, Singh M, Mishra C
Cont Lens Anterior Eye 2013 Feb;36(1):49-51. Epub 2012 Oct 31 doi: 10.1016/j.clae.2012.10.083. PMID: 23121842
Cogan syndrome.
Orsoni JG, Zavota L, Pellistri I, Piazza F, Cimino L
Cornea 2002 May;21(4):356-9. doi: 10.1097/00003226-200205000-00005. PMID: 11973382

Therapy

French protocol for diagnosis and management of Cogan's syndrome.
Arnaud L, Audemard-Verger A, Belot A, Bienvenu B, Burillon C, Chasset F, Chaudot F, Darbon R, Delmotte A, Ebbo M, Espitia O, Fauchais AL, Guedon AF, Hachulla E, Hadjadj J, Hautefort C, Jachiet V, Mamelle E, Martin M, Muraine M, Papo T, Pouchot J, Pugnet G, Sève P, Zenone T, Mekinian A; contributors
Rev Med Interne 2025 Feb;46(2):74-88. Epub 2024 Oct 24 doi: 10.1016/j.revmed.2024.09.007. PMID: 39455380
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K, Bignotti S, Callea M, Cammarata-Scalisi F, Steger B, Armstrong D, Lagan M, Sinton J, Semeraro F, Kaye SB, Romano V, Willoughby CE
Ophthalmic Genet 2024 Feb;45(1):16-22. Epub 2024 Jan 26 doi: 10.1080/13816810.2023.2258218. PMID: 37755702
KID syndrome: response to acitretin.
Sahoo B, Handa S, Kaur I, Radotra BD, Kumar B
J Dermatol 2002 Aug;29(8):499-502. doi: 10.1111/j.1346-8138.2002.tb00315.x. PMID: 12227483
Cogan syndrome.
Orsoni JG, Zavota L, Pellistri I, Piazza F, Cimino L
Cornea 2002 May;21(4):356-9. doi: 10.1097/00003226-200205000-00005. PMID: 11973382
Glaucoma in the congenital rubella syndrome.
Boniuk M
Int Ophthalmol Clin 1972 Summer;12(2):121-36. PMID: 4121209

Prognosis

French protocol for diagnosis and management of Cogan's syndrome.
Arnaud L, Audemard-Verger A, Belot A, Bienvenu B, Burillon C, Chasset F, Chaudot F, Darbon R, Delmotte A, Ebbo M, Espitia O, Fauchais AL, Guedon AF, Hachulla E, Hadjadj J, Hautefort C, Jachiet V, Mamelle E, Martin M, Muraine M, Papo T, Pouchot J, Pugnet G, Sève P, Zenone T, Mekinian A; contributors
Rev Med Interne 2025 Feb;46(2):74-88. Epub 2024 Oct 24 doi: 10.1016/j.revmed.2024.09.007. PMID: 39455380
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K, Bignotti S, Callea M, Cammarata-Scalisi F, Steger B, Armstrong D, Lagan M, Sinton J, Semeraro F, Kaye SB, Romano V, Willoughby CE
Ophthalmic Genet 2024 Feb;45(1):16-22. Epub 2024 Jan 26 doi: 10.1080/13816810.2023.2258218. PMID: 37755702
Retinoschisis associated with Kearns-Sayre syndrome.
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
Desir J, Abramowicz M
Orphanet J Rare Dis 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. PMID: 18922146Free PMC Article
Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R
Pediatr Dermatol 1996 Mar-Apr;13(2):105-13. doi: 10.1111/j.1525-1470.1996.tb01414.x. PMID: 9122065

Clinical prediction guides

Reduced Corneal Sensitivity With Neuronal Degeneration is a Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Bartosiewicz K, Studzian M, Pułaski Ł, Braun M, Ivask M, Koks S, Jurowski P, Młynarski W
Am J Ophthalmol 2022 Apr;236:63-68. Epub 2021 Oct 26 doi: 10.1016/j.ajo.2021.09.030. PMID: 34710353
Corneal Abnormalities Are Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Braun M, Zielonka E, Ivask M, Koks S, Jurowski P, Młynarski W
Am J Ophthalmol 2020 Sep;217:140-151. Epub 2020 Apr 23 doi: 10.1016/j.ajo.2020.04.012. PMID: 32335055
Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.
Abramowicz MJ, Albuquerque-Silva J, Zanen A
J Med Genet 2002 Feb;39(2):110-2. doi: 10.1136/jmg.39.2.110. PMID: 11836359Free PMC Article
Familial pathologic myopia, corneal dystrophy, and deafness: a new syndrome.
Kurt E, Günen A, Sadikoğlu Y, Oztürk F, Tarhan S, Sari RA, Fistik T, Ari Z
Jpn J Ophthalmol 2001 Nov-Dec;45(6):612-7. doi: 10.1016/s0021-5155(01)00426-9. PMID: 11754903
Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia.
Cremers CW, Philipsen VM, Mali JW
J Laryngol Otol 1977 Jul;91(7):585-90. doi: 10.1017/s0022215100084085. PMID: 408455

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