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Leber congenital amaurosis

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Leber congenital amaurosis

ORPHA:65Disease

Also called Amaurosis congenita of Leber

What it is

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

Key facts

Prevalence
1-9 / 100 000
Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

AIPL1Disease-causing germline mutation(s)
ALMS1Disease-causing germline mutation(s)
CABP4Disease-causing germline mutation(s)
CEP290Disease-causing germline mutation(s)
CRB1Disease-causing germline mutation(s)
CRXDisease-causing germline mutation(s)
GDF6Disease-causing germline mutation(s)
GUCY2DDisease-causing germline mutation(s) (loss of function)
IFT140Disease-causing germline mutation(s)
IMPDH1Disease-causing germline mutation(s)
IQCB1Disease-causing germline mutation(s) (loss of function)
KCNJ13Disease-causing germline mutation(s)
LCA5Disease-causing germline mutation(s)
LRATDisease-causing germline mutation(s)
NMNAT1Disease-causing germline mutation(s)
OTX2Disease-causing germline mutation(s)
PCYT1ADisease-causing germline mutation(s) (loss of function)
PRPH2Disease-causing germline mutation(s)
RD3Disease-causing germline mutation(s)
RDH12Disease-causing germline mutation(s) (loss of function)
RPE65Disease-causing germline mutation(s)
RPGRIP1Disease-causing germline mutation(s) (loss of function)
SPATA7Disease-causing germline mutation(s)
TUBB4BDisease-causing germline mutation(s)
TULP1Disease-causing germline mutation(s)
USP45Disease-causing germline mutation(s)

ICD-10 codes

H35.5filed under a broader ICD-10 category — shared with 49 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Premature BabiesRetinal DisordersMacular Degeneration

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 634MEDDRA 10070667MESH D057130MONDO 0018998OMIM 179900OMIM 204000OMIM 204100OMIM 604232OMIM 604393OMIM 604537OMIM 608133OMIM 608553OMIM 610125OMIM 610612OMIM 611755OMIM 612712OMIM 613341OMIM 613826OMIM 613829OMIM 613835OMIM 613837OMIM 613843OMIM 614186OMIM 615360OMIM 617879OMIM 618513UMLS C0339527

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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