Literature DB >> 2336278

Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus.

M F Marmor1.   

Abstract

Fundus albipunctatus (FA) is considered to be a congenital stationary night-blinding disorder, but there has been no electrophysiologic or photographic documentation of long stability or change. This documentation is presented for two cases followed for 13 to 14 years. The physiologic (functional) deficits appeared to be stable, in support of the concept that FA is not a progressive dystrophy. However, the fundus lesions evolved in appearance from flecks in childhood to relatively permanent punctate dots that increase in number over the years.

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Year:  1990        PMID: 2336278     DOI: 10.1016/s0161-6420(90)32577-0

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  9 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.  Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.

Authors:  Muhammad Ajmal; Muhammad Imran Khan; Kornelia Neveling; Yar Muhammad Khan; Syeda Hafiza Benish Ali; Waqas Ahmed; Muhammad Safdar Iqbal; Maleeha Azam; Anneke I den Hollander; Rob W J Collin; Raheel Qamar; Frans P M Cremers
Journal:  Mol Vis       Date:  2012-06-13       Impact factor: 2.367

8.  Fundus albipunctatus photoreceptor microstructure revealed using adaptive optics scanning light ophthalmoscopy.

Authors:  Ethan K Sobol; Avnish Deobhakta; Carl S Wilkins; Jasmine H Francis; Toco Y P Chui; Alfredo Dubra; Davis B Zhou; Maria V Castanos; Gareth M C Lema; Richard B Rosen; Justin V Migacz
Journal:  Am J Ophthalmol Case Rep       Date:  2021-04-16

9.  A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy.

Authors:  Hyelin You; David Sierpina
Journal:  Case Rep Genet       Date:  2022-04-06
  9 in total

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