April 2010
Volume 51, Issue 13
ARVO Annual Meeting Abstract  |   April 2010
Cone Structure in Patients With BEST1 Mutations
Author Affiliations & Notes
  • J. L. Duncan
    Beckman Vision Ctr-Sch of Med, Univ of California - SF, San Francisco, California
  • S. M. Sundquist
    Beckman Vision Ctr-Sch of Med, Univ of California - SF, San Francisco, California
  • A. Solovyev
    Beckman Vision Ctr-Sch of Med, Univ of California - SF, San Francisco, California
  • K. Ratnam
    Beckman Vision Ctr-Sch of Med, Univ of California - SF, San Francisco, California
  • B. J. Lujan
    Vision Science,
    University of California, Berkeley, Berkeley, California
  • Y. Zhang
    Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama
  • E. M. Stone
    Ophthalmology and Visual Sciences, Carver College of Medicine, Iowa City, Iowa
  • A. Roorda
    School of Optometry,
    University of California, Berkeley, Berkeley, California
  • Footnotes
    Commercial Relationships  J.L. Duncan, None; S.M. Sundquist, None; A. Solovyev, None; K. Ratnam, None; B.J. Lujan, None; Y. Zhang, None; E.M. Stone, None; A. Roorda, US Patent #7118216, P.
  • Footnotes
    Support  NIH Grants EY002162, EY014375, Research to Prevent Blindness, Foundation Fighting Blindness, The Bernard A. Newcomb Macular Degeneration Fund, That Man May See, Inc., Hope for Vision
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 4328. doi:
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    • Get Citation

      J. L. Duncan, S. M. Sundquist, A. Solovyev, K. Ratnam, B. J. Lujan, Y. Zhang, E. M. Stone, A. Roorda; Cone Structure in Patients With BEST1 Mutations. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4328.

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

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Purpose: : To study macular structure and function in patients with mutations in the BEST1 gene.

Methods: : The coding sequences of the BEST1 gene were bidirectionally sequenced in 6 patients from 4 families with bilateral vitelliform maculopathy. Adaptive Optics Scanning Laser Ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography (SDOCT) images were compared with normal subjects. Fundus autofluorescence (AF), visual acuity (VA), kinetic and static perimetry, electro-oculography (EOG), full-field (ffERG) and multifocal electroretinography (mfERG) were measured.

Results: : Heterozygous mutations in BEST1 were present in all patients (Patient 1, Glu292Lys; Patient 2, Arg218His; Patients 3 and 4, Glu300Lys; Patients 5 and 6, Val9Ala). VA ranged from 20/20-20/125. Vitelliform subretinal deposits were present in all patients; retinal pigment epithelium (RPE) atrophy was present in at least 1 eye of all but the youngest patient. Arden ratios were reduced, ffERG amplitudes and timing were normal and mfERG amplitudes were reduced with delayed timing in the affected areas. AF was increased centrally in all patients; some showed reduced AF within the hyperAF lesion consistent with RPE atrophy. 4 of 6 patients maintained foveal fixation while fixation was eccentric in 2 patients. VA was best in those without subretinal fluid, but was 20/25 in the presence of subretinal fluid where hyperreflective outer segments were observed adjacent to the fovea. Patients with reduced VA showed subretinal or subRPE fluid and loss of the outer segment layer. If cones were present inside the vitelliform lesions, they were generally weakly reflective and of low density, except in two patients who had discrete, highly reflective, contiguous patches of cones, some with normal spacing. Cones outside lesions were generally contiguous and close packed, but cone density was decreased where there was either increased AF or subretinal fluid. Cones were most normal at the borders of macular lesions without subretinal fluid and where AF was most normal.

Conclusions: : AOSLO showed well-preserved cones outside regions with AF deposits, subretinal fluid or photoreceptor/RPE atrophy in patients with BEST1 mutations, suggesting AF abnormalities and subretinal fluid are associated with cone loss.

Keywords: retinal degenerations: hereditary • imaging/image analysis: clinical • photoreceptors 

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