Type 2 macular telangiectasia is a rare eye disorder that affects the macula, the central part of the retina. It can lead to vision problems, including difficulty reading and recognizing faces. While there is no cure, management may include vision aids and lifestyle modifications. The assessment of the Polygenic Risk Score for type 2 macular telangiectasia is based on the examination of 10 gene polymorphisms.
Genetic testing for type 2 macular telangiectasia is included along with 12 other diseases in the Genetic Screening for Sensory Organs and Skin Diseases, Polygenic Risk Score.
Causes and non-genetic risk factors
Macular telangiectasia type 2 is a rare retinal disease still poorly characterized. It involves dilation of the retinal capillaries of the macula, which may be primary or secondary, associated with other vascular pathologies. It is a pathology more frequent in middle-aged adults, and men and women are equally affected. It is a relatively unknown disease, although it has been associated with some pathologies such as diabetes or hypertension.
Symptoms
In the early stages of the disease, there are no symptoms. As the disease progresses, visual problems may be experienced, such as:
- Blurred vision
- Distorted vision
- Loss of central vision
Side vision is usually not affected and does not cause total blindness. This loss is progressive and may be experienced for years.
Prevention
The causes of macular telangiectasia type 2 are unknown, so no preventive measures have been identified. At present, the disease has a relatively good prognosis since there are treatments that significantly improve vision in affected individuals. Therefore, as there are no symptoms at onset, early diagnosis of the disease can significantly help to limit its progression. In addition, it can sometimes be associated with other pathologies such as diabetes or hypertension, so good control of these can reduce the risk in these patients.
