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Cochleosaccular degeneration-cataract syndrome

MedGen UID:
348378
•Concept ID:
C1861512
•
Disease or Syndrome
Synonyms: Cochleosaccular degeneration of the inner ear and progressive cataracts; COCHLEOSACCULAR DEGENERATION WITH PROGRESSIVE CATARACTS
SNOMED CT: Cochleosaccular degeneration and cataract syndrome (715528001); Cochleosaccular degeneration with progressive cataract (715528001)
 
Monarch Initiative: MONDO:0007346
OMIM®: 120040
Orphanet: ORPHA3233

Definition

Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant. [from SNOMEDCT_US]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Abnormality of the nervous system
MedGen UID:
105425
•Concept ID:
C0497552
•
Congenital Abnormality
An abnormality of the nervous system.
See: Feature record | Search on this feature
Progressive cataract
MedGen UID:
867208
•Concept ID:
C4021566
•
Disease or Syndrome
A kind of cataract that progresses with age.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCochleosaccular degeneration-cataract syndrome
Follow this link to review classifications for Cochleosaccular degeneration-cataract syndrome in Orphanet.

Recent clinical studies

Etiology

Vestibular evoked myogenic potentials show altered tuning in patients with Ménière's disease.
Rauch SD, Zhou G, Kujawa SG, Guinan JJ, Herrmann BS
Otol Neurotol 2004 May;25(3):333-8. doi: 10.1097/00129492-200405000-00022. PMID: 15129114

Diagnosis

Vestibular evoked myogenic potentials show altered tuning in patients with Ménière's disease.
Rauch SD, Zhou G, Kujawa SG, Guinan JJ, Herrmann BS
Otol Neurotol 2004 May;25(3):333-8. doi: 10.1097/00129492-200405000-00022. PMID: 15129114

Prognosis

A histologic study of nonmorphogenetic forms of hereditary hearing impairment.
Smith RJ, Steel KP, Barkway C, Soucek S, Michaels L
Arch Otolaryngol Head Neck Surg 1992 Oct;118(10):1085-94. doi: 10.1001/archotol.1992.01880100077016. PMID: 1382455

Clinical prediction guides

Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources.
Parker LL, Gao J, Zuo J
Brain Res 2006 May 26;1091(1):235-42. Epub 2006 Apr 21 doi: 10.1016/j.brainres.2006.03.032. PMID: 16630581
A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait.
Guala A, Germinetti V, Sebastiani F, Silengo MC
Clin Genet 1992 Jun;41(6):293-5. doi: 10.1111/j.1399-0004.1992.tb03400.x. PMID: 1623624
Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy.
Shinkawa H, Nadol JB Jr
Ann Otol Rhinol Laryngol 1986 May-Jun;95(3 Pt 1):313-8. doi: 10.1177/000348948609500321. PMID: 3717858

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