Even teenagers don't feel safe about "retinal chromatin degeneration" that leads to blindness

Nov 05, 2024

Normal (left) and retinal pigmentation (right) fundus photographs, and pigmentation around peripheral retinal vessels are observed.

Photo courtesy = Kim Ophthalmology Hospital

In the recent KBS 2TV weekend drama 'The Iron Family', the main character's disease 'degenerative rare retinopathy' is attracting viewers' attention. In the play, this disease is known as an incurable disease in which the field of vision gradually narrows over a long period of time and eventually loses sight. Eye diseases similar to these symptoms include 'retinal pigment degeneration'.

Retinal pigment degeneration occurs when photoreceptors, cells that detect light stimuli and convert them into electrical signals, fail to function normally. The decline in function of these cells is mostly due to genetic defects. Genetic retinal disease can be caused by more than 300 causative genes, of which about 80 genes are known to be related to retinal pigment degeneration.

The female protagonist in the play is diagnosed with 'degenerative rare retinal disease' at the age of 14 and gradually loses her sight over a long period of time, and retinal pigment degeneration also shows symptoms as early as her teens and as late as her 40s.

Generally, when going to a dark place, it is difficult to see immediately and then gradually adapt over 5 to 10 minutes to recognize the surrounding objects, but patients with retinal pigment degeneration have deteriorated 'cancer compliance' function, resulting in night blindness symptoms. Night vision loss can also occur in macular degeneration, high myopia, cataracts, and glaucoma, but retinal pigment degeneration is characterized by severe degree at a younger age. In addition, reduced visibility, which narrows the range of viewing objects, is also known as a representative initial symptom.

Early detection is of paramount importance because symptoms deteriorate over time and are a progressive disease that leads to blindness. If you experience symptoms that are difficult to see in a dark place or narrow vision, you should get an ophthalmic examination as soon as possible.

Diagnosis is made by checking for pigmentation in the retina with fundus examination, or confirming that the photoreceptor layer is thinned by light interference tomography (OCT). In addition, the retinal potential test confirms whether photoreceptor function is deteriorated or lost. Genetic tests can also be performed to identify the causative genes.

Although the fundamental treatment for retinal pigment degeneration is not yet known, several treatments are being studied, including gene therapy to replace abnormal genes, retinal transplantation to turn dysfunctional or dead retinal cells into healthy retinal cells, and artificial retina that causes electrical stimulation in the retina on behalf of damaged retinal cells.

It is important to find a way to slow the progression of the disease through accurate diagnosis and specialist consultation because each patient has different causative genes, and the treatment may vary depending on the gene. Taking nutritional supplements such as vitamin A, omega-3, and lutein, or wearing eye protection glasses or sunglasses to block UV rays can be helpful. Also, if you have a family history, improving your lifestyle habits, such as avoiding excessive drinking or smoking, can have a positive effect.

Lee Ji-hyun, a specialist at Kim Ophthalmology Hospital's Retinal Hospital, emphasized, "Since retinal pigment degeneration is a genetic disease and there is no clear prevention or treatment yet, the help of those around it is essential. It is a progressive disease, so it is important to help patients adjust to their lives according to their conditions and to manage them to protect their eyesight as much as possible."