September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Posterior segment coloboma and congenital cataract in a South African family
Author Affiliations & Notes
  • Saadiah Goolam
    Division of Ophthalmology, Department of Neurosciences, University of Witwatersrand, Johannesburg, South Africa
  • Nadia Carstens
    Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa
  • Mark Ross
    Illumina Cambridge Ltd., Saffron Walden, United Kingdom
  • David Bentley
    Illumina Cambridge Ltd., Saffron Walden, United Kingdom
  • Margarida Lopes
    Illumina Cambridge Ltd., Saffron Walden, United Kingdom
  • John Peden
    Illumina Cambridge Ltd., Saffron Walden, United Kingdom
  • Zoya Kingsbury
    Illumina Cambridge Ltd., Saffron Walden, United Kingdom
  • Trevor R Carmichael
    Division of Ophthalmology, Department of Neurosciences, University of Witwatersrand, Johannesburg, South Africa
  • Michele Ramsay
    Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa
    Division of Human Genetics, National Health Laboratory Service and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
  • Susan E Williams
    Division of Ophthalmology, Department of Neurosciences, University of Witwatersrand, Johannesburg, South Africa
  • Footnotes
    Commercial Relationships   Saadiah Goolam, None; Nadia Carstens, None; Mark Ross, Illumina Inc. (E); David Bentley, Illumina Inc. (E); Margarida Lopes, Illumina Inc. (E); John Peden, Illumina Inc. (E); Zoya Kingsbury, Illumina Inc. (E); Trevor Carmichael, None; Michele Ramsay, None; Susan Williams, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 4832. doi:
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      Saadiah Goolam, Nadia Carstens, Mark Ross, David Bentley, Margarida Lopes, John Peden, Zoya Kingsbury, Trevor R Carmichael, Michele Ramsay, Susan E Williams; Posterior segment coloboma and congenital cataract in a South African family. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4832.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Congenital cataracts are an important treatable cause of childhood visual disability. Non-syndromic hereditary forms may be associated with other ocular anomalies in approximately 15% of cases, usually involving the anterior segment. Inherited forms of coloboma are less frequent than the sporadic form, and are predominantly associated with systemic disease. They may also be associated with other ocular anomalies. Cataracts are much more commonly associated with iris colobomas than isolated posterior segment colobomas. The objective of this study is to report the uncommon phenotype of congenital cataract and posterior segment coloboma in a South African family and to investigate its genetic etiology.

Methods : Observational case series. DNA was extracted and whole genome sequencing was performed on six affected family members.

Results : Twenty-six family members were included, with 20 individuals affected in an inheritance pattern consistent with autosomal dominant. Posterior segment coloboma (predominantly optic disc coloboma) was present in 17 individuals and iris coloboma in 1. Fourteen had evidence of cataract, with anterior polar cataracts in 10 and pupillary membrane remnants in 4 of these. Nystagmus was present in 17. Other features included high myopia in 8 individuals and microcornea in 3 individuals. Variant ranking identified a R208W PAX6 mutation (dbSNP rs757259413; HGMD CM930572) that was present in all 6 sequenced individuals.

Conclusions : This study reports on the uncommon association of congenital cataract with posterior segment coloboma in a South African family. The R208W PAX6 mutation known to be associated with aniridia is implicated in the variably expressed cataract-coloboma phenotype seen in this family. This association has not previously been described and should contribute to our understanding of the role PAX6 plays in ocular development and cataractogenesis.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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