Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Alternative Names

  • ODRMD

Associated Genes

Six Homeobox 6
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

212550

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q23.1

Description

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.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
212550.1.1SyriaMaleYesYes Global developmental delay; Intellectual...NM_007374.3:c.532_536delHomozygousAutosomal, RecessiveDeepthi et al. 2021 Proband
212550.1.2SyriaMaleYesYes Anophthalmia; Microphthalmia; Developmen...NM_007374.3:c.532_536delHomozygousAutosomal, RecessiveDeepthi et al. 2021 Brother of 212550.1....
212550.2.1SyriaMaleYesYes Microphthalmia; Corneal scarring; Retina...NM_007374.3:c.532_536delHomozygousAutosomal, RecessiveAldahmesh et al. 2013; Patel et al. 2018
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