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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): 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 impairment
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.
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.
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.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.
Hyperopia, high
MedGen UID:
341009
Concept ID:
C1855925
Finding
A severe form of hypermetropia with over +5.00 diopters.
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.

Recent clinical studies

Diagnosis

Wu S, Yuan Z, Sun Z, Yao F, Sui R
Am J Med Genet A 2022 Mar;188(3):948-952. Epub 2021 Nov 25 doi: 10.1002/ajmg.a.62582. PMID: 34821467
Mechaussier S, Marlin S, Kaplan J, Rozet JM, Perrault I
Adv Exp Med Biol 2019;1185:233-238. doi: 10.1007/978-3-030-27378-1_38. PMID: 31884617

Therapy

Wu S, Yuan Z, Sun Z, Yao F, Sui R
Am J Med Genet A 2022 Mar;188(3):948-952. Epub 2021 Nov 25 doi: 10.1002/ajmg.a.62582. PMID: 34821467

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