July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Retinal structure variation in congenital aniridia: within family phenotype-genotype discordance
Author Affiliations & Notes
  • Hilde Rogeberg Pedersen
    National Center for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University College of Southeast Norway, Kongsberg, Norway
  • Maureen Neitz
    Department of Ophthalmology, University of Washington, Seattle, Washington, United States
  • Stuart J. Gilson
    National Center for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University College of Southeast Norway, Kongsberg, Norway
  • Erlend Christoffer Sommer Landsend
    Department of Ophthalmology, Oslo University Hospital, Oslo, Norway
  • Øygunn Aass Utheim
    Department of Ophthalmology, Oslo University Hospital, Oslo, Norway
  • Tor Paaske Utheim
    Department of Ophthalmology, Oslo University Hospital, Oslo, Norway
    National Center for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University College of Southeast Norway, Kongsberg, Norway
  • Rigmor C Baraas
    National Center for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University College of Southeast Norway, Kongsberg, Norway
  • Footnotes
    Commercial Relationships   Hilde Rogeberg Pedersen, None; Maureen Neitz, None; Stuart Gilson, None; Erlend Landsend, None; Øygunn Utheim, None; Tor Utheim, None; Rigmor Baraas, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 667. doi:
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    • Get Citation

      Hilde Rogeberg Pedersen, Maureen Neitz, Stuart J. Gilson, Erlend Christoffer Sommer Landsend, Øygunn Aass Utheim, Tor Paaske Utheim, Rigmor C Baraas; Retinal structure variation in congenital aniridia: within family phenotype-genotype discordance. Invest. Ophthalmol. Vis. Sci. 2018;59(9):667.

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

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Abstract

Purpose : Congenital aniridia is an autosomal dominant disorder affecting retinal development and foveal hypoplasia. We investigated photoreceptor structure in a family with aniridia caused by a deletion in the PAX6 gene.

Methods : Six persons (3 males) with congenital aniridia, aged 24–66yrs, and 10 age-matched normal controls (4 males) were included in the study. DNA was isolated from saliva samples, and used in the polymerase chain reaction (PCR) to amplify and sequence the exons and intron/exon junctions of the PAX6 gene. The PCR primers and conditions were those described previously (Human Genome Variation (2016) 3:15052). Fluorescent DNA sequencing was performed on both DNA strands. Visual acuity and ocular media opacities were evaluated. High-resolution retinal images were acquired with Heidelberg Spectralis SD-OCT2 and adaptive optics scanning light ophthalmoscopy (AOSLO). Cones were identified and cone density (CD; cones/mm2) was estimated along nasal-temporal meridians within the central 0–5°eccentricity. Horizontal SD-OCT line scans were segmented to analyze severity of foveal hypoplasia (FH, normal to complete: 0–4).

Results : DNA sequencing revealed a deletion of the -2 nucleotide in intron 2 (IV2-2delA), disrupting the consensus 3’ splice site for exon 3; a known aniridia-causing mutation. Those with aniridia had severe iris hypoplasia. Visual acuity ranged from 0.22–0.86 logMAR. AOSLO images were obtained of four (3 males) family members with aniridia, two pseudophakic and two with lens opacities (LOCSIII: N2-C1-P1, N1-C3-P1). FH grade were obtained for all six. Three with aniridia had FH grade 2 (all males) and three had grade 3 (all females), two of the females also had optic nerve hypoplasia and nystagmus. Foveal CD in aniridia ranged from 17831–53683 cones/mm2 with overlap between FH grade 2 and 3. No relationship between CD and visual acuity was observed. CD was significantly lower in aniridia, with CD >3 SD below the normal mean within 0.5°, >2 SD below the normal mean at 0.5°–4°, and >1SD below the normal mean at 5° eccentricity.

Conclusions : The results show considerable difference in structural phenotype in family members with aniridia and the same genetic mutation; females being more affected than males. The lack of correlation between CD and visual acuity suggests that visual function in aniridia may be related to altered numbers of post-receptoral neurons and associated circuitry.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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