Best disease

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Classification according to ICD-10
H35.5 Hereditary retinal dystrophy
ICD-10 online (WHO version 2019)

The Best's disease , including Crohn's Best or Vitelliform macular degeneration called, is a autosomal - dominant inherited disease of the retina of the human eye.

genetics

Best disease is inherited as an autosomal dominant trait. The affected gene bestrophin ( BEST1 ) is located on chromosome 11 , gene locus q13.

Symptoms

In contrast to the non-genetic forms of macular degeneration, Best disease occurs at a young age, usually in the first two decades of life. The ophthalmologist recognizes noticeable changes in the ophthalmoscope, which occur in the form of egg yolk-like, sharply delimited deposits in the area of ​​the macula (“yellow spot” on the retina, visual center of the eye). Despite the clear findings, visual acuity is usually not impaired at the beginning.

In the course of the disease, however, a liquefaction and later absorption of the yellowish damage to the retina with deposits in the pigmented part of the retina (“scrambled egg” stage) occurs. Distinct tissue changes occur later, sometimes accompanied by uncontrolled formation of new blood vessels, which usually lead to a significant loss of vision in the affected person.

Clinical diagnostics

In addition to family history and a binocular retinal examination (characteristic image of the center of the retina) by the ophthalmologist, visual field examinations , autofluorescence measurements of the retina, optical coherence tomography (OCT) of the center of the retina and fluorescence angiography are carried out. Changes in electrophysiological diagnostics, especially in the electookulogram (EOG), are very pathognomic, but cannot rule out the disease.

treatment

There is currently no treatment option. Some sufferers take vitamin A or lutein , but there is no scientific evidence that they are effective. A healthy diet with lots of green vegetables (because of the lutein) and good UV protection through suitable sunglasses are recommended. In most cases, it is possible to use magnifying visual aids to improve vision.

History

Best disease was first described in 1905 by the German ophthalmologist Friedrich Best in a family of eight affected patients.

Individual evidence

  1. ↑ G. Caldwell et al .: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy . In: Genomics . 58, No. 1, May 1999, ISSN 0888-7543 , pp. 98-101. doi : 10.1006 / geno.1999.5808 . PMID 10331951 .  
  2. ↑ Oliver Arend, Andreas Remky, Claudia Dahlke, Bernd Kirchhof: Normal Electro-oculogram in a Patient With Vitelliruptive Macular Dystrophy and Multiple Vitelliform Cysts . In: Arch Ophthalmol. tape 118 , no. 10 , 2000, pp. 1460-1461 .
  3. ↑ Friedrich Best : About a hereditary macular affection . In: Journal of Ophthalmology . 13, No. 3, 1905, pp. 199-212. doi : 10.1159 / 000290318 .

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