Table 2
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 ?