Leber Congenital Amaurosis with Early-Onset Deafness (LCAEOD)

External Ids:

OMIM 57 617879 MedGen 42 CN807950

MeSH 44 D054062 SNOMED-CT via HPO 69 95695004 13164000

OMIM : ⁵⁷ Leber congenital amaurosis with early-onset deafness 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). (617879)

MalaCards based summary : Leber Congenital Amaurosis with Early-Onset Deafness, is also known as lcaeod. An important gene associated with Leber Congenital Amaurosis with Early-Onset Deafness is TUBB4B (Tubulin Beta 4B Class IVb). Related phenotypes are reduced visual acuity and retinal degeneration

UniProtKB/Swiss-Prot : ⁷⁵ Leber congenital amaurosis with early-onset deafness: An autosomal dominant disease characterized by severe retinal degeneration and sensorineural hearing loss. Symptoms occur within the first decade of life. Onset at birth is observed in some patients.

Clinical features from OMIM:

617879

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