American scientists from the laboratory of ophthalmic genomics of the National Eye Institute in Maryland have recorded a new genetic eye disease. This ailment manifests itself in the defeat of the macula (the central part of the retina), which leads to loss of clarity of vision due to damage to light-sensitive cells. The findings of the work are described in the journal JAMA Ophthalmology.
As specified, the disease causes premature macular degeneration due to mutations in several genes: ABCA4, BEST1, PRPH2 and TIMP3. Patients had scotomas – blind spots in the field of vision. In addition, they had changes in the macula, but with the preservation of central vision and without pronounced damage to the blood vessels under the retina, in contrast to typical Sorsby fundus dystrophy. As a result of observations, defective types of the TIMP3 protein, which is responsible for the regulation of blood flow in the retina, were noted in patients.
Earlier, a team of researchers from the UK came up with a non-invasive method of treating cataracts using special drops.