Adolescents can also develop macular degeneration

  In recent times, 15-year-old Ming found that he was blurred when looking at things, and his vision was declining seriously. He thought he was myopic, but his vision did not improve even with glasses, and the local area suspected amblyopia, but his vision still did not improve after a period of treatment. After a series of tests, Ming was diagnosed with juvenile macular degeneration (Stargardt’s disease). Faced with this diagnosis, the family was confused as to why the child was suffering from macular degeneration at such a young age. How should this disease be treated? Will it cause blindness?  In fact, this “macular degeneration” is not the same thing as what we usually call “age-related macular degeneration”. As early as 1909, a German ophthalmologist reported on this macular degeneration, he found that some children began to lose their vision gradually at a very young age, and there were special manifestations in the fundus of the eyes, so people named this disease after him as Stargardt’s disease to honor this doctor. The prevalence is about 1 in 10,000. The disease is usually characterized by the simultaneous development of the disease in both eyes, and it is usually not easily detected at birth or at a young age. This is what draws the attention of parents. Some children have poor vision, but they don’t talk about it themselves, parents neglect it, and only when they are very heavy do they go to the hospital to see a doctor, and then they realize that their children have macular degeneration, and their final vision is mostly 0.05~0.1, that is, they can just see the maximum visual scale of the visual acuity table. Some children have color vision abnormalities and may develop red-green weakness, red-green blindness or even total color blindness as the disease progresses. Typical patients show symmetrical bull’s-eye (bull’s-eye) atrophic changes in the macula of both eyes, often accompanied by yellow spots in the fundus.  (Fundus color photograph: symmetrical bull’s-eye atrophy in the macula of both eyes with scattered yellow spots in the periphery) (Fundus autofluorescence: central oval hypofluorescent area with scattered hypofluorescent spots in the periphery) Stargardt disease is a genetic disorder. Some parents of patients say, “No one in our family has bad glasses, how can it be hereditary? Stargardt’s disease is inherited in a variety of ways, including autosomal recessive, autosomal dominant, mitochondrial and even X-linked inheritance, and many cases are disseminated. The most common form is autosomal recessive, in which the causative gene ABCA4 is located on chromosome 1. Mutations in this gene lead to abnormal accumulation of harmful lipofuscin in the retina, eventually causing retinal photoreceptor cell atrophy and death. Studies have shown that the level of lipofuscin in the retina of patients with Stargardt disease is 2-5 times higher than that of normal controls of the same age, and that the level of lipofuscin in the eye of a 12-year-old patient with Stargardt disease is equivalent to that of a 50-year-old normal person!  There are other macular lesions similar to Stargardt’s disease in adolescents, such as retinal photoreceptor cell dystrophy and some retinitis pigmentosa. For children and their parents, it is not necessary to be so clear, but usually the ophthalmology department of a large hospital can give a more definite diagnosis.  Unfortunately, there is no specific treatment for this disease. Some parents bring their children to ask for intraocular injection of anti-new blood vessel drugs because they have heard that macular degeneration can be treated by injection, which is to treat this hereditary macular degeneration that occurs in adolescents as age-related macular degeneration.  For patients diagnosed with Stargardt’s macular degeneration, we suggest to pay attention to eye hygiene, such as avoiding bright light exposure, controlling the use of cell phone, computer and TV appropriately (not at all), promoting a balanced diet, eating more fresh vegetables and fruits, and taking appropriate lutein supplements, etc., which may play a certain role in preventing the development. One comforting thing is that Stargardt’s disease is generally not so severe as to cause complete blindness.  People at high risk of having Stargardt disease in their family can be screened with genetic diagnosis and genetic counseling with a view to detecting early and definitive diagnosis. In recent years, gene therapy and stem cell transplantation technologies have developed rapidly, and we hope that in the near future stem cell therapy and gene therapy will bring a cure for Stargardt’s disease!  It is especially important to remind that there are many profit-oriented advertisements claiming to be able to cure hereditary macular degeneration, which is not feasible. We hope parents will not be deceived.  Another point to remind parents and teenagers is that they should wear sunglasses when they go out in the sun, do not watch strong light, and do not use laser toys to irradiate themselves or others to prevent macular damage, some patients’ macular problems are caused by accidental light damage.