Hair growth on the head is noticeably less full than normal, and the hairs are very weak; the rest of the body shows normal hair. The macular degeneration comes on slowly with deterioration of central vision, leading to a loss of reading ability. Those affected may otherwise develop in a completely healthy manner; life expectancy is normal.
The markedly anomalous hair growth should lead to a retinal examination by school entry at the latest, since weak vision will not necessarily be detected in the course of normal medical check-ups. Confirmation of a diagnosis, which is necessary for any future therapeutic options, is only possible by means of a molecular genetic diagnosis in the context of genetic counseling.
There is no treatment for the disorder. A number of studies are looking at gene therapy, exon skipping and CRISPR interference to offer hope for the future. Accurate determination through confirmed diagnosis of the genetic mutation that has occurred also offers potential approaches beyond gene replacement for a specific group, namely in the case of diagnosis of a so-called nonsense mutation, a mutation where a stop codon is produced by the changing of a single base in the DNA sequence. This results in premature termination of protein biosynthesis, resulting in a shortened and either functionless or function-impaired protein. In what is sometimes called "read-through therapy", translationalskipping of the stop codon, resulting in a functional protein, can be induced by the introduction of specific substances. However, this approach is only conceivable in the case of narrowly circumscribed mutations, which cause differing diseases.
Life planning
A disease that threatens the eyesight and additionally produces a hair anomaly that is apparent to strangers causes harm beyond the physical. It is therefore not surprising that learning the diagnosis is a shock to the patient. This is as true of the affected children as of their parents and relatives. They are confronted with a statement that there are at present no treatment options. They probably have never felt so alone and abandoned in their lives. The question comes to mind, "Why me/my child?" However, there is always hope and especially for affected children, the first priority should be a happy childhood. Too many examinations and doctor appointments take up time and cannot practically solve the problem of a genetic mutation within a few months. It is therefore advisable for parents to treat their child with empathy, but to raise him or her to be independent and self-confident by the teenage years. Openness about the disease and talking with those affected about their experiences, even though its rarity makes it unlikely that others will be personally affected by it, will together assist in managing life.
Epidemiology
It is estimated to affect less than one in a millionpeople. Only 50 to 100 cases have so far been described.
History
The disease was first described in 1935 by Hans Wagner, a German physician.
