Genetic disorder with congenital deafness and
progressive visual loss.
Hearing loss is sensorineural and severe at
birth. Although many patients do not develop any speech, some still have
residual hearing in the lower frequencies, allowing amplification and
development of speech if treated in early childhood. Bilateral optic nerve
atrophy begins at an early age but is very slowly progressive, with visual
loss noticeable by the patient by age 24 to 30 years. This syndrome has no
other associated findings.
In the presence of hearing loss without
significant visual loss, optimize communication by remaining in the visual
field of the patient. Writing and drawing, when appropriate, are useful
tools. When sign language is used, a qualified translator available
preoperatively and postoperatively is an ideal helper. If the patient uses
an amplifying hearing device, keeping it available during induction and
emergence of anesthesia helps to reduce anxiety.
Sylvester Syndrome: Autosomal dominant inherited form of
Friedreich ataxia described in 6 of 9 children of one family. Combined
findings of Friedreich ataxia with optic atrophy and progressive
sensorineural hearing loss.
Nyssen-van Bogaert Syndrome: Rare genetic disorder with
blindness, deafness, developmental delay, and spasticity.
Alström Syndrome: Inherited syndrome with progressive visual
and hearing loss, diabetes mellitus, and cardiac, hepatic, and renal
Cockayne Syndrome: Characteristics of this autosomal-recessive
inherited disease are dwarfism, precociously senile appearance, pigmentary
retinal degeneration, optic atrophy, progressive sensorineural deafness,
sensitivity to sunlight, and mental retardation. Disproportionately long
limbs with large hands and feet and flexion contractures of joints are usual
Ballinger-Wallace Syndrome: Maternally transmitted diabetes
mellitus, neurosensory deafness, and ophthalmic abnormalities.
Wolfram Syndrome: Genetic syndrome sometimes referred to as
DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and
Rogers Syndrome: Rare syndrome caused by a defect in a
transporter of thiamine, which results in anemia, diabetes, puffiness, and
deafness. Situs inversus viscerum totalis is characteristic.
CAPOS Syndrome: Congenital neurologic syndrome with presentation
Rosenberg-Chutorian Syndrome: Inherited neurodegenerative
disorder with polyneuropathy, optic atrophy, and deafness. Features resemble
those of Charcot-Marie-Tooth disease combined with deafness.
Usher Syndrome: Autosomal recessive disease associated with
retinitis pigmentosa and sensorineural deafness.
Refsum Syndrome: Syndrome caused by accumulation of nicotinic acid
that leads to polyneuropathy, cutaneous ichthyosis, cardiac failure,
deafness, and visual anomalies.
Konigsmark BW, Knox DL, Hussels IE, et al: Dominant congenital deafness
and progressive optic nerve atrophy. Occurrence in four generations of a
family. Arch Ophthalmol
Kollarits CR, Pinheiro ML, Swann ER, et al: The autosomal dominant syndrome
of progressive optic atrophy and congenital deafness. Am J Ophthalmol
Sylvester PE: Some unusual findings in a family with ...