Inherited retinal disease is defined as "abnormalities of the retina caused by genetic factors". Inherited retinal diseases include retinitis pigmentosa, macular dystrophy, cone (-rod) dystrophy, occult macular dystrophy (Miyake's disease), Stargardt disease, Leber congenital amaurosis, cone dysfunction (e.g. achromatopsia), congenital stationary night blindness (e.g. complete or incomplete), bestrophinopathies ( Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy), Bietti crystalline corneoretinal dystrophy (crystallin retinopathy), flecked retina syndrome, choroideremia (see below).
Inherited retinal disease affects one in every 1500-3000 people, and it is estimated that there are more than 55,000 patients in Japan (approximate estimate based on the Guidelines for the Treatment of Retinitis Pigmentosa, Journal of the Japanese Ophthalmological Society, Vol. 120, No. 12). The number of genes that cause or are associated with the disease has increased over the years and now more than 300 genes have been identified (Retnet, USA). Because the clinical findings of the disease (phenotype) and the genes that cause the disease are often not one-to-one, the term "inherited retinal disease" is becoming more common, particularly in Western countries, to describe the overlap. A decade ago, the causes of most retinal diseases were unknown, but technological advances have led to the development of methods for testing multiple genes at the same time, which has increased the rate at which the cause of the disease can be identified, and understanding of the disease has advanced rapidly. In addition, genetic information on the Japanese population is gradually being accumulated, and we are able to provide more appropriate assessment of the disease condition according to the cause, health management for patients and their families, genetic counselling, low vision care, and for some conditions, treatment options such as referral to clinical trials.
We provide accurate clinical and genetic diagnosis through genetic testing of inheited retinal diseases in our clinical laboratory and genetic diagnosis by our expert panel of specialists, as well as the introduction of therapeutic trials such as gene supplementation/augmentation therapy. We have strengthened ties with institutions in Japan and overseas, and provide treatment and counselling from a global perspective for patients who come from abroad or wish to be referred abroad. Inherited retinal disease can affect not only the patient but also other family members. We provide psychosocial support to patients and their families by providing genetic medical information appropriate to the condition, including estimates of the genetic risk to the family and the recurrence rate in the child.
Our outpatient clinic is staffed by ophthalmologists and clinical geneticists certified by the Japanese Ophthalmological Society and the Japanese Society of Human Genetics.
The following cases can be considered;
You have been told you may have retinitis pigmentosa, but what is the cause?
Are you eligible for a gene supplementation/augmentation therapy trial?
Will my family members or I inherit the eye disease?
I have been offered a genetic test; should I take it?