Optic disk anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy, and macular atrophy. Some patients may have microphthalmia. Diagnosis involve clinical features and imaging (ultrasonography and CT / MR scanning). Mild to moderate microphthalmia observed in the patients can be managed conservatively with conformers; management of other visual defects is dependent upon retinal development and ocular characteristics.
Mutations in the Sine OculisHomeobox, Drosophila, Homolog of 6 (SIX6) gene have been associated with optic disk anomalies with retinal and/or macular dystrophy. This gene encodes a member of SIX gene family, which is required for proper eye development.
See: [Syria > Aldahmesh et al., 2013]
Aldahmesh et al. (2013) described two brothers, 5 years old and 16 months old, born to first cousins Syrian parents with microphthalmia associated with anterior and posterior segment dysgenesis. The younger brother had buphthalmos, corneal scarring and retinal detachment in the right eye. Using genotyping and autozygome analysis, a homozygous frame-shift deletion c.532_536del in SIX6 gene was found in both children, and it was heterozygous in the parents. This mutation was absent in 200 Saudi normal controls and in the 1000 genomes project.