Diseases of the eye and adnexa
Disorders of choroid and retina
Autosomal recessive
14q11.2
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613826.1.1 | United Arab Emirates | Female | Yes | Yes | Visual impairment; Nystagmus ; Pho... Visual impairment; Nystagmus ; Photophobia  | NM_020366.3:c.2608_2609insA | Homozygous | Autosomal, Recessive | Fakhratova, 2013 | Proband |
| 613826.1.2 | United Arab Emirates | Female | Yes | Yes | Visual impairment; Nystagmus ; P... Visual impairment; Nystagmus ; Photophobia | NM_020366.3:c.2608_2609insA | Homozygous | Autosomal, Recessive | Fakhratova, 2013 | Sister of 613826.1.1 |
| 613826.2.1 | Saudi Arabia | Female | Yes | Yes | Visual impairment; Abnormal visual fixa... Visual impairment; Abnormal visual fixation; Nystagmus; Retinal pigment epithelial mottling | NM_020366.3:c.2236G>A | Homozygous | Autosomal, Recessive | Khan et al. 2013; Abu-Safieh et al, 2013 | |
| 613826.2.2 | Saudi Arabia | Female | Yes | Yes | Visual impairment; Abnormal visual fix... Visual impairment; Abnormal visual fixation; Nystagmus; Retinal pigment epithelial mottling | NM_020366.3:c.2236G>A | Homozygous | Autosomal, Recessive | Khan et al. 2013; Abu-Safieh et al, 2013 | Sister of 613826.2.1 |
| 613826.3.1 | Saudi Arabia | Female | Yes | Yes | Reduced visual acuity; Global developm... Reduced visual acuity; Global developmental delay; | NM_020366.3:c.1107del | Homozygous | Autosomal, Recessive | Khan et al. 2013; Hameed et al, 2003 | |
| 613826.3.2 | Saudi Arabia | Male | Yes | Yes | Reduced visual acuity Reduced visual acuity | NM_020366.3:c.1107del | Homozygous | Autosomal, Recessive | Khan et al. 2013; Hameed et al, 2003 | Brother of 613826.3.... |
| 613826.4 | Saudi Arabia | Female | No | Yes | Progressive visual loss; Nystagmus; ... Progressive visual loss; Nystagmus; Photophobia; Retinal pigment epithelial mottling | NM_020366.3:c.2662C>T | Homozygous | Autosomal, Recessive | Khan et al. 2013 | |
| 613826.5 | Saudi Arabia | Female | Yes | Yes | Reduced visual acuity; Global developme... Reduced visual acuity; Global developmental delay; Nystagmus | NM_020366.3:c.1107del | Homozygous | Autosomal, Recessive | Khan et al. 2013; Hameed et al, 2003 | |
| 613826.6 | Saudi Arabia | Female | No | Yes | Reduced visual acuity; Photophobia; ... Reduced visual acuity; Photophobia; Nystagmus; | NM_020366.3:c.3330T>A | Homozygous | Autosomal, Recessive | Khan et al. 2013; Abu-Safieh et al, 2013 | |
| 613826.7 | Saudi Arabia | Female | No | Yes | Reduced visual acuity; Nystagmus; Ret... Reduced visual acuity; Nystagmus; Retinal pigment epithelial mottling | NM_020366.3:c.1107del | Homozygous | Autosomal, Recessive | Khan et al. 2013; Hameed et al, 2003 | |
| 613826.8 | Saudi Arabia | Female | No | Yes | Reduced visual acuity; Nystagmus; R... Reduced visual acuity; Nystagmus; Retinal pigment epithelial mottling | NM_020366.3:c.1107del | Homozygous | Autosomal, Recessive | Khan et al. 2013; Hameed et al, 2003 | |
| 613826.G.1 | Saudi Arabia | Unknown | Yes | Yes | Visual impairment Visual impairment | NM_020366.3:c.1107del | Homozygous | Autosomal, Recessive | Patel et al, 2018 | 2 members of a famil... |
| 613826.G.2 | United Arab Emirates | Unknown | Yes | Yes | Visual impairment Visual impairment | NM_020366.3:c.2608_2609insA | Homozygous | Autosomal, Recessive | Patel et al, 2018 | 3 members of a famil... |