Macular telangiectasia type 2

Macular telangiectasia is a neurodegenerative disease of the macula, affecting both eyes and causing loss of central vision. Type 2 is the most common, although its prevalence in the population is 0.12%.

Macular telangiectasia type 2 is a rare retinal disease that is still not well 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 fairly 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 such as blurred vision, distorted vision and loss of central vision may be experienced. 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 greatly 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.

Number of observed variants

13.5 million variants

Number of risk loci

10 loci

Genes analyzed

CPS1 EOMES FBN3 HMGCS2 JMJD1C PSPH SLC1A4 SLC6A20 TMEM161B TTC39B

Bibliography

Bayón-Porras R.M. et al. Telangiectasias maculares idiopáticas de tipo 2: prevalencia en nuestra área y estudio morfométrico y fenotípico. Archivos de la Sociedad Española de Oftalmología. 2018;93(3): 105-112.

Macular telangiectasia. American Academy of Ophthalmology [Apr 2023].

Bonelli R, Jackson VE, Prasad A, et al. Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.

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