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Leber congenital amaurosis 12(LCA12)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Amaurosis congenita of Leber, type 12; LCA12; RD3-Related Leber Congenital Amaurosis
Gene (location): RD3 (1q32.3)
Monarch Initiative: MONDO:0012525
OMIM®: 610612


Leber congenital amaurosis-12 (LCA12) is characterized by congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit from birth, early onset and long-lasting digitoocular signs of Franceschetti, and mild to moderate hyperopia. Photoaversion is usually present. Visual acuity, when measurable, is reduced to counting fingers, hand movements, or light perception (summary by Perrault et al., 2013). [from OMIM]

Additional description

From MedlinePlus Genetics
Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.

Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.

A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.

At least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.

In very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.  https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis

Clinical features

From HPO
Congenital blindness
MedGen UID:
Concept ID:
Congenital Abnormality
Blindness with onset at birth.
MedGen UID:
Concept ID:
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Abnormality of macular pigmentation
MedGen UID:
Concept ID:
Anatomical Abnormality
Abnormality of macular or foveal pigmentation.

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