Leber congenital amaurosis

Introduction

Clinically & genetically heterogeneous group of childhood retinal degenerations

Epidemiology

• most common genetic cause of congenital visual impairment in infants and children

Pathology

• little or no retinal photoreceptor function

Genetics

• autosomal recessive
• defects in GUCY2D are a cause of LCA1
• defects in RPE65 are a cause of LCA2
• defects in RDH12 are a cause of LCA3
• defects in AIPL1 are a cause of LCA4
• defects in lebercilin are a cause of LCA5
• defects in RPGRIP1 are a cause of LCA6
• defects in CRX are the cause of LCA7
• defects in CEP290 are the cause of type 10
• defects in RD3 are a cause of LCA12
• defects in CRB1 or CRB2 gene

Clinical manifestations

• moderate to severe congenital visual impairment
• infantile nystagmus
• sluggish pupillary responses
  • paradoxical pupil response may be observed
• symmetric midfacial hypoplasia
• enophthalmos
• hypermetropic refractive errors
• substantial variability

Diagnostic procedures

• absent or poorly recordable electroretinographic responses early in life

More general terms

• retinal disease
• genetic disease of the eye

Additional terms

• transient monocular blindness (TMB); amaurosis fugax

Database

• OMIM: https://mirror.omim.org/entry/204000
• OMIM: https://mirror.omim.org/entry/604392
• OMIM: https://mirror.omim.org/entry/613829
• OMIM: https://mirror.omim.org/entry/611755
• OMIM: https://mirror.omim.org/entry/604232