Cataract 41
- Synonyms
- CATARACT 41, CONGENITAL NUCLEAR TYPE
Summary
Excerpted from the GeneReview:WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Timothy Barrett
- Lisbeth Tranebjærg
- Rajat Gupta
- view full author information
Available tests
52 tests are in the database for this condition.
Clinical tests (52 available)
Clinical features
Help- Abnormality of the eye
- Nuclear cataract
Nuclear cataract
- MedGen UID: 140274
- Concept ID: C0392557
- Finding: Finding
Abnormality of the eye
- Nuclear cataract
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