Visual Impairment in BBS

Data from CRIBBS

Helen Keller once said that "The only thing worse than being blind is having sight but no vision". Sight is a wonderful blessing in our lives. The vision of the CRIBBS registry is to promote research that will improve the health and quality of life of individuals affected by Bardet-Biedl syndrome.

I have been asked by several individuals in the last month about impaired sight in individuals with BBS. I would like to share information from CRIBBS with the BBS community. Please remember that this information is based on individual and family reports and the information needs to be carefully reviewed and documented before it becomes established facts concerning BBS.

Observations on impaired sight from CRIBBS (223 participants)

Individuals that use corrective lenses 161 of 223 (72.2%)

Individuals declared legally blind 97 of 223 (43.5%)

Average age of legal blindness of those determined to be legally blind:15.5 years (range of years for designation of legal blindness 2-44 years)

Nystagmus (rhythmic, oscillating motions of eyes) is reported in 52 of 223 individuals (23.3%)

Cataracts have been identified in 43 individuals (20.1%)

Age range of identification of cataracts: 12-55 years

Average age for the diagnosis of cataracts: 28.3 years

Night blindness reported in 176 of 223 individuals (78.9%)

Age range for recognition of night blindness is from toddler period to 26 years

In those individuals with night blindness 136 of 176 (77.3%) were identified to have the symptom by 10 years of age or younger

Color blindness was reported in 69/223 (31%) individuals. Forty five of the 69 (65.2%) were males while 24 females (34.8%) were considered color blind.

142 of 223 individuals (63.6%) have worked with a low vision specialist

125 of 223 individuals (56%) have received or are receiving mobility training with a cane

The age range of beginning to use a cane is 3 to 63 years while 27.2% of those who use a cane began to receiving mobility training before 10 years of age

86 of 223 (38.6%) of individuals are either learning braille and/or read braille. The age range for beginning to learn braille is from 3-63 years. Fifty percent of individuals that currently are using braille began braille instruction at 10 years of age or younger.

Electroretinography (ERG) has been performed in at least 142 of 223 (63.7%) of CRIBBS participants

Optical Coherence Tomography (OCT) has been performed in 41 of 223 (18.4%) of individuals in CRIBBS

At least 166 individuals (74.4%) have been informed that the CRIBBS participant has retinal degeneration. Several individuals were not aware of whether retinal degeneration is present or not.

This information is made possible by all those who have given their time and financial assistance to support CRIBBS. For more information on CRIBBS or to register to participate please go to

Dr. Bob Haws

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