Literature DB >> 3500444

Variable expressivity in fundus albipunctatus.

S Margolis1, I M Siegel, H Ripps.   

Abstract

A healthy, 14-year-old girl presented with nyctalopia, good vision, and multiple, irregular, yellowish lesions of the fundus. Dark adaptometry showed prolonged cone and rod branches, elevated thresholds, and the cone-rod transition occurring after 50 minutes in darkness. Her scotopic electroretinogram (ERG) b-wave attained normal amplitudes after 45 minutes of dark adaptation. The half-time for regeneration of rhodopsin after an extensive bleach was 16 minutes, four times longer than normal, and the maximum density difference measured by fundus reflectometry was at the lower limit of the normal range. Although photopigment kinetics were significantly faster than observed in other reported cases of fundus albipunctatus, it appears likely that there is a wide spectrum of functional and funduscopic abnormalities in this disorder. However, fundus appearance, adaptometric findings, and rhodopsin determinations serve to distinguish fundus albipunctatus from other flecked retina diseases.

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Year:  1987        PMID: 3500444     DOI: 10.1016/s0161-6420(87)33274-9

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


  4 in total

Review 1.  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

2.  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

3.  Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus.

Authors:  G F Jang; J P Van Hooser; V Kuksa; J K McBee; Y G He; J J Janssen; C A Driessen; K Palczewski
Journal:  J Biol Chem       Date:  2001-06-20       Impact factor: 5.157

4.  Igh locus structure and evolution in Platyrrhines: new insights from a genomic perspective.

Authors:  Diego Garzón-Ospina; Sindy P Buitrago
Journal:  Immunogenetics       Date:  2019-12-14       Impact factor: 2.846

  4 in total

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