Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia. Previously, RAX recessive mutations were implicated in a single patient with right anophthalmia, left microphthalmia and sclerocornea. In this study, we report the findings of novel compound heter...

The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The a...

Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been...

PURPOSE Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. A few genes (orthodenticle homeobox 2 [OTX2], retina and anterior neural fold homeobox [RAX], SRY-box 2 [SOX2], CEH10 homeodomain-containing homolog [CHX10], and growth differentiation factor 6 [GDF6]) have been implicated mainly in isolated micro/anophthalmia but causative muta...

Inherited anophthalmia was observed in the progeny of a female rat irradiated with 50 R of X-irradiation at 17 days of age. Observations on the inheritance of the condition indicated that this anophthalmia can be considered as the result of polygenic factors with incomplete penetrance.

Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia. Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes with recessive inheritance was done stepwise and DNA was analyzed by Sanger sequencing. Results: Bilateral anophthalmia, arachnodactyly of the...

Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His)) and c.709G > A (p.(Gly237Arg)) of the ALDH1A3 gene were present in the affected newborn. Both mutations were a...