Best Disease
Usual onset is from 3-15 years, with an average age of 6 years. The condition often is not detected until much later in the disease because visual acuity may remain good for many years. The atrophic stage usually occurs after age 40 years.
Cause of Best DiseaseThis eye condition tends to run in families and its cause is from an autosomal dominant disorder. Genetic mapping has linked the disease to the long arm of chromosome 11 (11q12-q13). The abnormality is in the retinal pigment epithelium , a layer of the retina.Basic Retina Anatomy
To understand this disease, it is helpful to know some anatomy.The
macula
is a small spot, about 1 mm in diameter, located in the center of the retina at the back of the eye. It is made up of mostly cone cells which are responsible for our sharp, detailed vision and our straight ahead or central vision.
It is named after Frederich Best, a German ophthalmologist, who discovered this eye disease in 1905. This disease only affects the eyes. No other systems of the body are involved. Abnormalities in the eye result from a disorder in the retinal pigment epithelium (RPE) one of the layers of the retina. Lipofuscin, fatty yellow deposits, accumulates within the RPE cells and in the sub-RPE space, particularly in the foveal (center of the macula) area. The RPE appears to have degenerative changes followed by a loss of photoreceptor or cone cells. SymptomsThe first sign of this disease is an appearance of a yellow or orange yolk like spot in the macula.
Best disease accumulates a mass of fat-like material that resembles an egg yolk (vitelline is a word that means yolk-like) in the area of the retina responsible for central vision. Usually visual symptoms don't appear until the egg yolk fat deposit breaks up. Stages of Best Disease
Some carriers have normal eye exams and remain without any symptoms. Not all individuals progress beyond the early stages. Other individuals can skip from the earliest stages to the latest stages.
This eggyolk like spot evolves and progresses through six stages over many years.
The stages are:
Stage 1. Previtelliform Stage Visual Acuity is 20/20 Normal macula or subtle RPE pigment changes Electro-oculography (a type of retinal testing) is abnormal
Stage 2. Vitelliform Stage Visual Acuity is 20/20 to 20/50 Well-circumscribed, 0.5-5 mm round, elevated, yellow or orange lesion; described as an egg-yolk appearance; usually centered on the fovea; can be multifocal; the rest of the fundus(the portion of the inner eye that can be seen during an eye examination by looking through the pupil) has a normal appearance. Stage 3. Pseudohypopyon Stage Visual Acuity is 20/20 to 20/50 The yellow material can break through the RPE and accumulate in the subretinal space in a cyst with a fluid level formed. The yellow material will shift with extended changes in position (60-90 min). This stage most often is found in the teenage years, but it has been described in individuals aged 8-38 years. Stage 4. Vitelliruptive Stage Visual Acuity is 20/20 to 20/100 Scrambled egg appearance is due to the breakup of the vitelliform lesion. Pigment clumping and early atrophic changes may be noted. Visual acuity may deteriorate moderately.
Stage 5. Atrophic Stage Acuity may reduce to less than 20/200 As the yellow material disappears over time, an area of RPE atrophy remains. This appearance is difficult to distinguish from other causes of macular degeneration. Visual acuity can deteriorate more markedly at this stage. Stage 6. Choroidal neovascular Following the atrophic stage, choroidal neovascularization can develop which leads to a whitish subretinal fibrous scar.
Best Disease Treatment
Currently there is no conventional, effective treatment. Scientific research is ongoing and may lead to some form of genetic treatment.Complementary treatment including nutrition, supplements and microcurrent stimulation is suggested by Dr. Marc Grossman, optometrist, acupuncturist, and author. He offers free telephone consults and offers high quality eye supplements along with nutritional advice. If this interests you click here: Vision Health Treatment Options & Nutrient Recommendations
For More Information:
Didn't find what you were looking for? Search this site by typing in a keyword and the results will be displayed below: Loading Go from Best Disease to Juvenile Macular Degeneration
Would you like to be updated on: The latest Clinical Trials? 
√ Prevention of Macular Degeneration?√ Tips for Daily Living? √ Food Suggestions for a Macular Degeneration Diet? √ Ideas on Visual Aids to Maximize your Sight? If you said "yes" to any of the above, sign up for my monthly Macular Degeneration News.
|
