LCA

Introduction

It is usually of AR inheritance.
- Affects 1 in 80,000 children
- Onset before age of 1
- Has 25 associated genetic mutations, such as GUCY2D, NMAT1, CEP290,AIPL1, RDH12
- Most notable genetic mutation is RPE65, accounting for 5-10% of cases

Dead Giveaways

Typically is not seen in practice, as it is early reported by others due to presence in Children

Appearance also changes based on aetiology:

Has a lot of different appearances. One even has bone spicules

RPE65 associated has a generally lower rate of visual loss, but will have profound rod dysfunction from birth.
- Can show sluggish pupillary light responses, photophobia, high hyperopia

diagnostic features

Prognosis is very poor, and will most likely lead to a lifetime of blindness

As for ERG, it is either undetectable, or very abnormal.