Cochleosaccular degeneration with progressive cataracts, also known as autosomal dominant progressive sensorineural hearing loss and cataracts is a rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...

characterized by the adult-onset combination of cochleosaccular degeneration and progressive

cataract A cataract is a cloudy area in the lens (anatomy), lens of the eye that leads to a visual impairment, decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or ...

which is transmitted as an autosomal dominant trait for generations in entire families, essentially resulting in familial

deafblindness Deafblindness is the condition of little or no useful hearing and little or no useful sight. Different degrees of vision loss and auditory loss occur within each individual. Because of this inherent diversity, each deafblind individual's needs re ...

. Additional features include unstable gait. Only 15 cases from 2 multi-generational families in the United States and Italy (respectively) have been described in medical literature.

Cases

*1982: J B Nadol Jr. ''et al.'' describes 7 members from 5 sibships belonging to a four-generation American family. The proband was a 65-year-old man who had died as a result of a motorcycle accident. He had a cataract already present in his right eye since birth (a clinical finding known as

congenital cataract Congenital cataracts are a lens opacity that is present at birth. Congenital cataracts occur in a broad range of severity. Some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment. Cong ...

, but he developed cataracts in his previously healthy left eye as well, he went through cataract extraction surgery when he was 42-years-old. He started showing signs of rapid progressive hearing loss at the age of 26, at the same time, he also developed a staggering gait, which falsely suggested he was under the influence of alcohol. His family had 6 other members who showed the same symptoms as him, 3 instances of male-to-male transmission (suggesting autosomal dominant inheritance), and 9 other members who were said to have progressive hearing loss only. *1992: A Guala ''et al.'' describes 8 members of a four-generation Italian family who showed the same symptoms as the members of the family described by Nadol ''et al.''

References

{{reflist Rare genetic syndromes Autosomal dominant disorders Congenital disorders of eyes Congenital disorders of ears Syndromes with sensorineural hearing loss