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  • 1.
    Burstedt, Marie
    et al.
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
    Golovleva, Irina
    Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
    Central Retinal Findings in Bothnia Dystrophy Caused by RLBP1 Sequence Variation2010In: Archives of ophthalmology (1960), ISSN 0003-9950, Vol. 128, no 8, p. 989-995Article in journal (Refereed)
    Abstract [en]

    Objective: To describe the central retinal findings early in the course of Bothnia dystrophy caused by the homozygous missense R234W sequence variation in the RLBP1 gene. Methods: In 8 young patients with Bothnia dystrophy (aged 9-34 years), high- and low-contrast distance visual acuity and visual fields were measured with Humphrey central (24-2) threshold testing and Goldmann perimetry. Central retinal thickness was measured with optical coherence tomography. Cross-sectional images were analyzed and a linear scanning protocol was applied to examine retinitis punctata albescence in the posterior pole. Results: Affected visual acuity (4 of 8 cases) and poor low-contrast visual acuity (8 of 8 cases) were found. Significant foveal depression and visual field loss were evident with Humphrey threshold testing at all ages, and paracentral and central scotomata in the second decade of life advanced in adulthood as verified with Goldmann perimetry. Optical coherence tomography showed generalized retinal thinning in the central foveal, foveal (innermost ring diameter [empty set], 1 mm), and inner ring (empty set, 3 mm) areas in all ages, and early retinal thinning was found in the inferior areas of the outer macula (empty set, 6 mm). Foveal and extrafoveal thinning of the retinal layers and outer nuclear layer were found. Homogeneous retinitis punctata albescence changes were visualized in and/or adjacent to the retinal pigment epithelium choriocapillaris complex with high reflectance. Conclusions: In the RLBP1 Bothnia dystrophy phenotype, a loss of function and thinning of the central macula are found, indicating early damage of the cone photoreceptors in this disease of the visual cycle. Retinitis punctata albescence spots in the posterior pole are situated close to or in the retinal pigment epithelium-choriocapillaris complex.

  • 2. Holmström, Gerd E
    et al.
    Hellström, Ann
    Jakobsson, Peter G
    Lundgren, Pia
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
    Tornqvist, Kristina
    Wallin, Agneta
    Swedish National Register for Retinopathy of Prematurity (SWEDROP) and the Evaluation of Screening in Sweden2012In: Archives of ophthalmology (1960), ISSN 0003-9950, Vol. 130, no 11, p. 1418-1424Article in journal (Refereed)
    Abstract [en]

    Objectives: To evaluate screening for retinopathy of prematurity (ROP) in Sweden and to investigate possible modifications of the present screening guidelines. Methods: Infants in Sweden with a gestational age (GA) of 31 weeks + 6 days or less are screened for ROP. Data from the Swedish national register for ROP (SWEDROP) during 2008 and 2009 were extracted and compared with a national perinatal quality register. Results: In SWEDROP, there were 1791 infants born before a GA of 32weeks from January 1, 2008, through December 31, 2009. Another 70 infants were registered in the perinatal quality register but not in SWEDROP (drop-out rate, 3.8% [70 of 1861 infants]). Seven infants died before termination of screening. In the final study cohort (1784 infants), 15.6% had mild ROP and 8.5% had severe ROP. Treatment was performed in 4.4% of the infants, none of whom had a GA at birth of more than 28 weeks. Nine infants with a GA of more than 28 weeks at birth developed stage 3 ROP, which regressed spontaneously. The total number of examinations was 9286 (964 in infants with a GA of 31 weeks), and the mean (range) number of examinations of each infant was 5.2 (1-30). Conclusions: The SWEDROP, a quality register for ROP, has a national coverage (ie, participation) of 96%. Data from 2008 to 2009 show that it seems possible to reduce the upper limit for screening in Sweden by 1 week, including only infants with a GA of 30 weeks + 6 days or less. However, such a change should be combined with a strong recommendation to neonatologists to refer also severely ill and more "mature" infants.

  • 3.
    Kawasaki, Aki
    et al.
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
    Munier, Francis L.
    Leon, Lorette
    Kardon, Randy H.
    Pupillometric Quantification of Residual Rod and Cone Activity in Leber Congenital Amaurosis2012In: Archives of ophthalmology (1960), ISSN 0003-9950, Vol. 130, no 6, p. 798-800Article in journal (Refereed)
  • 4. Mercado, Jennifer Loh
    et al.
    Purvin, Valerie A
    Kawasaki, Aki
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
    WuDunn, Darrell
    Bilateral sequential nonarteritic anterior ischemic optic neuropathy: a comparison of visual outcomes in fellow eyes using quantitative analysis of Goldmann visual fields2012In: Archives of ophthalmology (1960), ISSN 0003-9950, Vol. 130, no 7, p. 863-867Article in journal (Refereed)
    Abstract [en]

    Objective: To better define the concordance of visual loss in patients with nonarteritic anterior ischemic optic neuropathy (NAION).

    Methods: The medical records of 86 patients with bilateral sequential NAION were reviewed retrospectively, and visual function was assessed using visual acuity, Goldmann visual fields, color vision, and relative afferent papillary defect. A quantitative total visual field score and score per quadrant were analyzed for each eye using the numerical Goldmann visual field scoring method.

    Results: Outcome measures were visual acuity, visual field, color vision, and relative afferent papillary defect. A statistically significant correlation was found between fellow eyes for multiple parameters, including logMAR visual acuity (P=.01), global visual field (P <.001), superior visual field (P <.001), and inferior visual field (P <.001). The mean deviation of total (P <.001) and pattern (P <.001) deviation analyses was significantly less between fellow eyes than between first and second eyes of different patients.

    Conclusions: Visual function between fellow eyes showed a fair to moderate correlation that was statistically significant. The pattern of vision loss was also more similar in fellow eyes than between eyes of different patients. These results may help allow better prediction of visual outcome for the second eye in patients with NAION.

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