Amazon.com Kindle is Great for Visually Impaired Readers

The Kindle wireless reader from amazon.com is a fabulous invention for people with visual impairment! The Kindle DX should be on every Kjer's person's wish list!  Go to amazon.com.  I prefer the 9.7" display screen.

OMIM #125250

Optic Atrophy and Deafness is #125250 in the Online Mendelian Inheritance of Man (OMIM).  This OPA1 disorder is of particular interest to me.  I work as a pediatric audiologist.  My job is to perform tests on babies and young children to determine whether or not they have hearing loss.  It has long been established that there are genetic disorders that cause both vision and hearing loss.  Combined vision and hearing loss are evident in Usher syndrome (autosomal recessive), Stickler syndrome (autosomal dominant) and OPA1 with deafness (autosomal dominant), to name a few. It is my opinion that children (and adults) with one sensory loss should undergo a thorough examination of other sensory organs.  Additionally, a genetic work up should be considered within the comfort level of the family.

OMIM #165500

Optic Atrophy 1: OPA1 is #165500 in the  Online Mendelian Inheritance of Man (OMIM).  Other names for the disorder include Optic Atrophy, Juvenile Kjer-Type Optic Atrophy, Optic Atrophy, Kjer Type: OAK.    Check out the OMIM link for information on OPA1 and to  read research article snip-its.

What's Your OPA1 Gene Mutation?

Many different mutations in the OPA1 gene have been identified.  Mine is as follows:

DNA Variant: c.2873_2876delTTAG
Nucleotide Position: 2708_2711
Codon: 903_904
Amino Acid Change: Frame Shift

A simple blood test is performed and sent to a laboratory that offers clinical testing for Kjer Type Optic Atrophy.  Genetic testing is often quite expensive.  A free test may be available to you and your family members through EyeGene, a NIH sponsored program.  The test is free, but you have to find an EyeGene registered physician in your area, and you have to pay for the blood draw and shipping. 

The Genetics Behind Kjer's Optic Atrophy

Kjer's disease is a very rare genetic disorder that is transmitted in an autosomal dominant (versus autosomal recessive or X-linked) fashion.  Autosomal dominant, meaning a person with Kjer's has a 50% chance (with each pregnancy) of having a baby with the disease.  The gene responsible for Kjer's disease is located on chromosome 3.  The disease symptoms may be present by one year of age, although most children do not show vision loss until at least four years of age.  In my case, vision loss became evident on an elementary school screening.  In certain cases, vision loss may not be evident until adulthood.  Severity of the vision loss can vary amongst family members.  Both male and female offspring have the same chance of getting the gene defect.  Researchers have located many different OPA1 gene mutations.  As already stated, the disease is considered to be very rare, with an incidence of 1:10,000 in people of Danish descent, and 1:50,000 of non-Danish.

Welcome to Kjer to Share

I have Kjer's disease, also known as Kjer's Autosomal Dominant Optic Atrophy (ADOA).  I have had vision loss since childhood.  I was not formally diagnosed with Kjer's until 2007, when a simple blood test told me that I have a defect in the OPA1 gene.  My main goal of Kjer to Share is to communicate with others who have the disorder.  I look forward to chatting with other people who either have Kjer's or know someone who has the disease.  For an overview of Kjer's see the wikipedia article for Kjer's disease.