What is inherited retinal dystrophy?
A significant cause of blindness in industrialized countries¹
Adapted from Leroy et al., 2018.9
Inherited retinal dystrophy:
an overview
IRDs are a group of rare diseases associated with an inherited gene mutation affecting the retina that involve deterioration of vision and can result in eventual blindness.2‑6
Different forms of IRD differ in onset, severity, and progression of the diseases depending on the type of mutation and the cells affected.2,5,6
While there are differences between IRDs, they share some common features:
- The diseases are inherited and are caused by a specific genetic mutation(s). Depending on the IRD, blindness or vision loss may occur at birth or later in life.6
- Vision loss ultimately results from damage to the retina.6 IRDs are characterized by the progressive deterioration of rods and cones.3,8,9
- Retinal damage is caused by specific genetic mutations that affect how retinal cells function and survive.6
- There are currently over 300 genes that have been identified as being associated with IRD.6,10
- Different forms of IRD have different inheritance patterns depending on the mutations responsible.6 For example, Usher syndrome is always caused by an autosomal recessive mutation, although not always in the same gene. Others, such as Leber congenital amaurosis, are usually autosomal recessive inheritance, but can also present in autosomal dominant forms.7
- Some IRDs, such as choroideremia or X-linked retinoschisis are caused by one or only a small number of genes. Other diseases can be caused by many different mutations in many different genes. For example, over 64 genes have been identified that cause retinitis pigmentosa.6
- Retinitis pigmentosa, which is more of a collection of degenerations, can be autosomal recessive, autosomal dominant, or X-linked depending on the specific mutation(s) and genes involved.7,8,11
Common forms of IRD
Common forms of IRD
There are over 300 genes currently associated with IRDs6,10
To provide early and accurate diagnosis9,18
A specific diagnosis may help reduce anxiety9
To guide the testing of family members, identifying those at risk of inheriting or passing on the condition18
