Literature DB >> 1622952

Fundus albipunctatus associated with cone dystrophy.

Y Miyake1, N Shiroyama, S Sugita, M Horiguchi, K Yagasaki.   

Abstract

We describe five unrelated patients in whom the typical signs of fundus albipunctatus were accompanied by colour vision defects, bull's eye or similar macular lesions, and severely diminished full-field cone electroretinograms indicating widespread damage to cones outside the macula. All patients had noticed night blindness from childhood. Signs of retinitis punctata albescens, a disease of similar appearance but with characteristics resembling retinitis pigmentosa, were absent. We cannot be sure whether these patients represent a process of fundus albipunctatus or a distinct disease entity or a casual combination of fundus albipunctatus and cone dystrophy.

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Mesh:

Year:  1992        PMID: 1622952      PMCID: PMC504291          DOI: 10.1136/bjo.76.6.375

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN: 0007-1161            Impact factor:   4.638


  5 in total

1.  Congenital stationary night blindness with negative electroretinogram. A new classification.

Authors:  Y Miyake; K Yagasaki; M Horiguchi; Y Kawase; T Kanda
Journal:  Arch Ophthalmol       Date:  1986-07

2.  Congenital stationary nightblindness.

Authors:  R E Carr
Journal:  Trans Am Ophthalmol Soc       Date:  1974

3.  [ERG and EOG in retinitis punctata albescens].

Authors:  Y Miyake; T Asano; T Sakai; I Watanabe
Journal:  Nippon Ganka Gakkai Zasshi       Date:  1972-05

4.  Electroretinographic studies on retinitis punctata albescens.

Authors:  A Tamai; T Setogawa; F Kandori
Journal:  Am J Ophthalmol       Date:  1966-07       Impact factor: 5.258

5.  [Macular involvement in retinitis albescens (author's transl)].

Authors:  J Scouras; J Chevaleraud; B Papastratigakis
Journal:  J Fr Ophtalmol       Date:  1979-11       Impact factor: 0.818

  5 in total
  13 in total

1.  RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.

Authors:  Makoto Nakamura; Jason Skalet; Yozo Miyake
Journal:  Doc Ophthalmol       Date:  2003-07       Impact factor: 2.379

Review 2.  Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.

Authors:  Nan-Kai Wang; Lan-Hsin Chuang; Chi-Chun Lai; Chai Lin Chou; Hsueh-Yen Chu; Ling Yeung; Yen-Po Chen; Kuan-Jen Chen; Wei-Chi Wu; Tun-Lu Chen; An-Ning Chao; Yih-Shiou Hwang
Journal:  Doc Ophthalmol       Date:  2012-06-06       Impact factor: 2.379

Review 3.  The retinal pigment epithelium in health and disease.

Authors:  J R Sparrow; D Hicks; C P Hamel
Journal:  Curr Mol Med       Date:  2010-12       Impact factor: 2.222

4.  Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.

Authors:  Kazushige Tsunoda; Kaoru Fujinami; Kazutoshi Yoshitake; Takeshi Iwata
Journal:  Doc Ophthalmol       Date:  2019-07-08       Impact factor: 2.379

5.  Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.

Authors:  Artur V Cideciyan; Françoise Haeseleer; Robert N Fariss; Tomas S Aleman; Geeng-Fu Jang; Christophe L M J Verlinde; Michael F Marmor; Samuel G Jacobson; Krzysztof Palczewski
Journal:  Vis Neurosci       Date:  2000 Sep-Oct       Impact factor: 3.241

6.  Fundus albipunctatus-like lesions in juvenile retinoschisis.

Authors:  M J van Schooneveld; Y Miyake
Journal:  Br J Ophthalmol       Date:  1994-08       Impact factor: 4.638

7.  Improvement in rod and cone function in mouse model of Fundus albipunctatus after pharmacologic treatment with 9-cis-retinal.

Authors:  Akiko Maeda; Tadao Maeda; Krzysztof Palczewski
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-10       Impact factor: 4.799

8.  Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus.

Authors:  Hongxin Song; Lisa Latchney; David Williams; Mina Chung
Journal:  JAMA Ophthalmol       Date:  2014-09       Impact factor: 7.389

9.  Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

Authors:  Eran Pras; Elon Pras; Haike Reznik-Wolf; Dror Sharon; Svetlana Raivech; Yaniv Barkana; Almogit Abu-Horowitz; Rotenstreich Ygal; Eyal Banin
Journal:  Mol Vis       Date:  2012-06-23       Impact factor: 2.367

Review 10.  Retinitis pigmentosa.

Authors:  Christian Hamel
Journal:  Orphanet J Rare Dis       Date:  2006-10-11       Impact factor: 4.123

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