Differential Diagnosis

It is now recognised that LCA represents the most severe end of the spectrum of infantile onset retinal dystrophies. Some genes originally described as causing LCA have since been shown to have a less severe clinical pheno-type-with less nystagmus, normal pupil reactions, and better vision despite an absent ERG

Table 10.1. Systemic disorders with associated LCA findings

Disorder

MIM No.

Systemic features

Senior-Loken syndrome

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