It is unusual for younger patients to experience vision changes from cataracts. One of the lesser known causes is Hyperferritinemia cataract syndrome, a genetic disorder that is considered extremely rare. This disorder results in early onset of cataracts and is associated with constantly elevated blood plasma and ferritin levels. Ferritin is utilized as the indicator of our iron stores in the body. It is a protein that binds to iron. Cataract is the only known complication of this disorder. It is believed that hyperferritinemia cataract syndrome (HCS) is a result of ferritin light chain or FTL gene mutation, which is inherited as an autosomal dominant trait.
Signs and symptoms
The cataracts due to HCS become apparent when the patients are between 20 to 40 years of age. But it must be noted that there have been cases where the cataracts have been detected in children as young as 5 years and people over 40 years. It is also worth noting that every person of the family who suffers from HCS need not necessarily develop cataracts.
The severity of this disorder is subjective and varies between each person of the affected family. Once cataracts are developed due to HCS, they are known to get progressively worse. The first symptoms of HCS are most often glares that are worse with night driving and bright light. Some individuals report extreme sensitivity to light and photophobia, and experience hazy or blurred vision.
The FTL gene mutation can be a random occurrence due to a sporadic genetic change. The change is largely dependent on the chromosomes received from the mother and the father. Like many genetic disorders, HCS comes to effect when a single copy of an abnormal gene is enough to cause the abnormality. Even though this is mostly inherited from the parents, it can also be due to a new gene mutation in the affected individual.
HCS gives rise to excess ferritin in the body and high levels are found in the eye lenses. This excess amount is believed to be the main reason why individuals with HCS develop cataracts.
HCS is a very rare disorder and affects just about 1 in 200,000 people. The rarity of this disorder is also one of the reasons that it often goes undetected. There is no treatment specifically for HCS. Since the only symptom of the disorder is cataracts, your cataract surgeon in Michigan would treat it through standard treatment methods. It is recommended that affected families and individuals get genetic counseling to tackle HCS better.