Literature DB >> 11812441

Macular dystrophy in a 9-year-old boy with fundus albipunctatus.

Makoto Nakamura1, Yozo Miyake.   

Abstract

PURPOSE: To report a 9-year-old boy with fundus albipunctatus and macular dystrophy.
DESIGN: Observational case report.
METHODS: A complete ophthalmic examination was performed. The 11-cis retinol dehydrogenase gene (RDH5) was examined by direct genomic sequencing.
RESULTS: The fundi of the 9-year-old boy showed numerous yellow-white punctata as well as foveal atrophic lesions in both eyes. His corrected visual acuity was RE: 0.5 and LE: 0.3. Scotopic full-field electroretinograms were not present after 20 minutes of dark-adaptation but were normal after 3 hours of dark-adaptation. Full-field cone and 30-Hz flicker electroretinograms were normal; however, focal macular cone electroretinograms were significantly reduced. A compound heterozygous mutation of Tyr281His and Leu310GluVal in RDH5 was detected.
CONCLUSION: We suggest that the macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctatus.

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Year:  2002        PMID： 11812441     DOI： 10.1016/s0002-9394(01)01304-6

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


  10 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

3.  A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.

Authors:  Laurence M Occelli; Anahita Daruwalla; Samantha R De Silva; Paige A Winkler; Kelian Sun; Nathaniel Pasmanter; Andrea Minella; Janice Querubin; Leslie A Lyons; Anthony G Robson; Elise Heon; Michel Michaelides; Andrew R Webster; Krzysztof Palczewski; Ajoy Vincent; Omar A Mahroo; Philip D Kiser; Simon M Petersen-Jones
Journal:  Hum Mol Genet       Date:  2022-04-22       Impact factor: 5.121

4.  Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.

Authors:  Alessandro Iannaccone; Salvatore A Tedesco; Kevin T Gallaher; Hiroyuki Yamamoto; Steve Charles; Thaddeus P Dryja
Journal:  Doc Ophthalmol       Date:  2007-05-03       Impact factor: 2.379

5.  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

6.  Animals Models of Inherited Retinal Disease.

Authors:  Ala Moshiri
Journal:  Int Ophthalmol Clin       Date:  2021-07-01

Review 7.  Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

Authors:  Anna Skorczyk-Werner; Przemysław Pawłowski; Marta Michalczuk; Alicja Warowicka; Anna Wawrocka; Katarzyna Wicher; Alina Bakunowicz-Łazarczyk; Maciej R Krawczyński
Journal:  J Appl Genet       Date:  2015-03-28       Impact factor: 3.240

8.  Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.

Authors:  Tianwei Qian; Qiaoyun Gong; Hangqi Shen; Caihua Li; Gao Wang; Xun Xu; Isabelle Schrauwen; Weijun Wang
Journal:  BMC Ophthalmol       Date:  2022-02-11       Impact factor: 2.209

9.  Assessment of Macular Function during Vitrectomy: New Approach Using Intraoperative Focal Macular Electroretinograms.

Authors:  Celso Soiti Matsumoto; Kei Shinoda; Gaku Terauchi; Harue Matsumoto; Atsushi Mizota; Yozo Miyake
Journal:  PLoS One       Date:  2015-12-10       Impact factor: 3.240

Review 10.  Large Animal Models of Inherited Retinal Degenerations: A Review.

Authors:  Paige A Winkler; Laurence M Occelli; Simon M Petersen-Jones
Journal:  Cells       Date:  2020-04-03       Impact factor: 6.600
  10 in total

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