Leber congenital amaurosis with early-onset deafness(LCAEOD)

MedGen UID:: 1646810
•Concept ID:: C4693498
•: Disease or Syndrome

Synonyms:	LCAEOD; LEBER CONGENITAL AMAUROSIS AND EARLY-ONSET DEAFNESS; LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS

Gene (location): Gene(s) directly associated with this condition or phenotype.	TUBB4B (9q34.3)

Monarch Initiative:	MONDO:0060650
OMIM®:	617879

Definition

Leber congenital amaurosis with early-onset deafness (LCAEOD) is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth (Luscan et al., 2017). [from OMIM]

Clinical features

From HPO

Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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Photophobia

MedGen UID:: 43220
•Concept ID:: C0085636
•: Sign or Symptom

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.

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Nystagmus

MedGen UID:: 45166
•Concept ID:: C0028738
•: Disease or Syndrome

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

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Retinal degeneration

MedGen UID:: 48432
•Concept ID:: C0035304
•: Finding

A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.

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Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

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Peripapillary atrophy

MedGen UID:: 473480
•Concept ID:: C1719838
•: Pathologic Function

Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.

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Hyperopia, high

MedGen UID:: 341009
•Concept ID:: C1855925
•: Finding

A severe form of hypermetropia with over +5.00 diopters.

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Retinal pigment epithelial mottling

MedGen UID:: 347513
•Concept ID:: C1857644
•: Finding

Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.

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