Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family

Ophthalmic Genet. 2021 Dec;42(6):787-789. doi: 10.1080/13816810.2021.1955276. Epub 2021 Jul 21.

Authors

Masoud Dehghan Tezerjani¹, Behdokht Fathi Dizaji², Zahra Metanat³, Mohammad Yahya Vahidi Mehrjardi⁴

Affiliations

¹ Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Science, Yazd, Iran.
² Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
³ Provincial Clinical Genetic Counseling Center, Zahedan University of Medical Sciences, Zahedan, Iran.
⁴ Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

PMID: 34287093
DOI: 10.1080/13816810.2021.1955276

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Aldehyde Oxidoreductases / genetics*
Anophthalmos / diagnosis
Anophthalmos / genetics*
Anophthalmos / physiopathology
Consanguinity*
Electroretinography
Evoked Potentials, Visual / physiology
Exons / genetics*
Female
Genes, Recessive
Humans
Mutation, Missense / genetics*
Pedigree
Penetrance
Retina / physiopathology
Tomography, Optical Coherence

Substances

Aldehyde Oxidoreductases
aldehyde dehydrogenase (NAD(P)+)