Deafblindness - Causes Etiologies

References for this document
Manifestations
Etiology	Cause/Incidence	Vision	Hearing	Other
Congenital Rubella	Mothers infected in first 6 weeks of pregnancy have babies with 2 or 3 of the following characteristics: cataracts, deafness, severe to clinically unapparent heart disease	Congenital cataracts are common, occur in 20-70% infants; pigmentary retinopathy; strabismus; glaucoma	Mild to profound sensorineural loss, unilateral or bilateral; audiograms "belly- like" curves with greatest loss at 1,000 hz	Cardiac defects; microcephaly; meningo- encephalitis
Cytomegalo-virus, (CMV)	Asymptomatic infection	Blindness at birth, or progressive inflammation of eyes which can lead to blindness	Deafness	Microencephaly; seizures; mental retardation
Syphilis	Intrauterine infection or acquired during birth with contact of lesions in birth canal	Blindness at birth, or progressive inflammation of eyes which can lead to blindness	Deafness	Anemia; bone inflammation; mental retardation; skeletal anomalies; dental abnormalities
Toxoplasmosis	Parasite in raw meat or kitty litter; in pregnancy can cross placenta to fetus	Blindness at birth, or progressive inflammation of eyes which can lead to blindness	Deafness	Microencephaly; seizures; mental retardation
Herpes	Intrauterine infection contracted during passage through the birth canal of infected mother; .03 to .3 thousand births	Disease of the retina, or moderate to severe visual impairment	Deafness at birth, or mild to profound hearing impairment	Microencephaly; encephalitis; seizures; mental retardation; central nervous system damage; periodic herpes skin rash

References for this document

Manifestations

Etiology

Cause/Incidence

Vision

Hearing

Other

CHARGE Association

Unknown

C for coloboma: lesion on the eye which can impair vision depending on location; present in 75% of people

E for ear anomalies/deafness: mild to profound mixed loss bilaterally; chronic otitis media

H for heart disease;

A for atesia: if bilateral-severe respiratory distress; if unilateral-constant nasal discharge;

R for retarded growth: mild to severe mental retardation;

G for genital hypoplasia; genital abnormalities in males

Usher’s Syndrome

Genetic

1:20,000 people, 3-6% children born with hearing impairments have Usher’s Syndrome; Types I-IV classifications are based upon the degree of sensory loss and cognitive functioning; accounts for 50% of deaf-blindness

Night blindness usually first symptom of retinitis pigmentosa, can occur as early as preschool; visual loss often not noticed until late childhood or adolescence

First symptom that is diagnosed; severe to moderately severe sensorineural loss; bilateral; greater loss in higher frequencies

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