Clinical characteristics | [28] | [28] | [2] | [29] | [26] | [26] | [31] | This study |
Mutation
|
Homozygous c.2083dup; p. Thr695Asnfs*5 | Homozygous c.2083dup; p. Thr695Asnfs*5 | Homozygous c.2968-2A>T; p.Val990Cysfs*13 |
Compound heterozygous c.7687C>T; p. Arg2563Trp and
c.4046C>G; p. Ala1349Gly
|
Homozygous c.1857T>A; p. Cys619* | Homozygous c.1857T>A; p. Cys619* | Homozygous c.1558C>T; p.(Arg520*) | Homozygous c.5069-1G>C p.1690D>Gfs*2 |
Type of mutation | Frameshift | Frameshift | Splice | Missense | Nonsense | Nonsense | Nonsense | frameshift |
Exon/intron containing mutation | Exon 12 | Exon 12 | Intron 16 | Exon 22 and exon 28 | E11 | E11 | E9 | Intron 23 |
Consanguinity
|
Yes
|
Yes
|
Yes rep04 |
No INTELL1
|
NO 16 | NO 16 | Yes 017 |
Yes
|
Origin | Saudi Arabia | Saudi Arabia | France | India | India | India | Pakistan | Iran |
Gender | Male | Female | Male | Male | Female | Female | Not given | Male |
Age | 11 | 9 | 9 | 6 | 5years and 6months | 3years and 4months | Not given | 32 |
Motor development | Normal | Normal | Delayed | Delayed | Delayed | Delayed | Not given | Normal |
Cognition | Normal | Normal | Delayed | Delayed | Delayed | Normal | Not given | Delayed |
Ptosis | No | No | No | No | Unilateral (left) | Bilateral partial ptosis | Not given | yes |
Microphthalmia | Yes | Yes | Yes | Yes (right eye) | No | No | Yes | Yes |
Micro cornea | Yes | Yes | Yes | Bilateral sclerocornea | Yes | Yes | Not given | ? |
Corneal shape | Oval | Not given | Not given | Not given | Vertically oval | Vertically oval | Not given | ? |
Iris coloboma | Inferior | Inferior | Inferior | Not given | Inferonasal | Inferonasal | bilateral iris and chorioretinal colobomas | ? |
Shape of disc | Anomalous | Not given | Not given | Not given | Normal | Normal | Not given | ? |
Disc coloboma | Yes | Yes | Yes | Not given | Inferonasal bilateral involving fovea | Inferonasal bilateral involving fovea | ? | ? |
Visual acuity | 20/50(R) Hand movement (L) | 20/200(R) 20/300(L) | Hand movement both eyes | Not given | 6/36 both eyes | 6/36 both eyes | Not given | ? |