LCA Subtypes

Early profound vision loss — but with remarkably preserved retinal structure

Profound night blindness from birth

Severe visual impairment from infancy

Early profound vision loss — one of the most severe LCA subtypes

Ciliopathy

Initial rapid decline followed by stabilization

Extensive clinical heterogeneity (including intrafamilial variability)

Thickened, dysplastic retinal appearance with disorganized lamination on OCT

Severe macular atrophy (macular coloboma-like lesion)

Most common LCA subtype (15-20%)

Autosomal dominant inheritance

Very rare

LCA phenotype with significant disease progression in adolescence

Visual cycle defect (similar pathway to RPE65)

Photoreceptor protein transport defect

RPE potassium channel dysfunction

Eye developmental gene

Homozygous PRPH2 mutations cause LCA (AR), heterozygous cause RP7 (AD)

Reduced vision in early childhood

No official LCA subtype number — classified as RP80 in OMIM

No official LCA subtype number assigned

No official LCA subtype number assigned

No official LCA subtype number assigned — candidate LCA gene

No official LCA subtype number assigned

No official LCA subtype number assigned

No official LCA subtype number assigned