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I have recently been looking into a condition further to a conversation I had with a parent where their child had been diagnosed with a hereditary retinal dystrophy, also known as Best's Disease.
There is much talk on Degenerative Macular Disease. In fact, further to the recent Oscars in Los Angeles, Oscar-winning actress and British darling of stage and screen Dame Judi Dench announced she has been dealing with two different forms of macular degeneration, one in each eye, which has already affected her sight to the extent that she has to have new scripts read to her.
We are perhaps more aware of age-related disease especially in the older generation. The conversation I had, however, was regarding a sprightly and frenetic 11 year old who alerted his parents to the fact there was something wrong on a pre-school sight test.
Best disease, also termed vitelliform macular dystrophy, is an autosomal dominant disorder, which classically presents in childhood. Many individuals with Best's disease initially are asymptomatic, with fundus lesions noted on examination, akin to a yellow or orange yolk like lesion found on the macular. Visual symptoms can include decreased acuity (blurring) and metamorphopsia. These symptoms may worsen if the disease progresses to the atrophic stage, with such a lesion.
When I asked what treatment was beng provided, I was told, “none”. No treatment exists for Best's disease. An ophthalmic specialist advises that secondary choroidal neovascularization can be managed with direct laser treatment. Treatment with an intravitreal injection of bevacizumab has also been described. It is in this instance, a case of evaluation of family members to identify carriers and individuals with vitelliform macular dystrophy. Both genetic and career counseling can be provided.
The RNIB in the UK is not aware of any current effective treatment, but scientific research, both traditional and genetic, may provide useful treatments for the future. In many people, serious sight loss is avoided but others can lose sight which may approach levels which would qualify for registration as sight impaired (partially sighted).