1.Adult-onset foveomacular dystrophy
Kristine Corpus ; Jo Anne Hernandez ; Narciso Jr. Atienza
Philippine Journal of Ophthalmology 2010;35(1):36-39
Objective:
To describe a case of adult-onset foveomacular vitelliform dystrophy
(AOFVD).
Method:
This is a case report.
Results:
A 22-year-old female presented with painless blurring of vision and
metamorphopsia 3 days prior to consultation. There were 2 similar episodes
in the past that spontaneously resolved after 2 to 4 weeks. Visual acuity (VA)
was 20/50 in the right eye (OD) and 20/40 in the left (OS), both best corrected
to 20/25. Dilated-fundus examination revealed a discrete area of mixed hypoand hyperpigmentation 1 disc diameter over the fovea in OD and a solitary
round hypopigmented lesion with a hyperpigmented border 3 to 4 disc
diameters on the fovea in OS. Fluorescein angiography (FA) revealed an area
of hyperfluorescence surrounded by a rim of hypoflourescence in OD and an
area of blocked fluorescence with subtle hyperfluorescence superior to the
lesion in OS, both of which did not increase in size and intensity toward the
late phases. Optical coherence tomography (OCT) revealed neurosensory
detachment in both eyes. Electrooculogram (EOG) was normal with Arden
ratio of 0.91. VA returned to 20/25 in both eyes, and repeat fundus
photography showed no change in the characteristics of the lesions.
Conclusion
Differential diagnosis of a hypopigmented macular lesion in the young with
self-limited blurring of vision should include AOFVD. FA, OCT, and EOG can
help distinguish AOFVD from Best’s disease or other similar macular
conditions.
Vitelliform Macular Dystrophy
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Bestrophins
;
Peripherins
2.A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.
Yang LI ; Guanglu WANG ; Bing DONG ; Xiuying SUN ; Matthew J TURNER ; Shin KAMAYA ; Kang ZHANG
Annals of the Academy of Medicine, Singapore 2006;35(6):408-410
INTRODUCTIONIn this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.
MATERIALS AND METHODSOphthalmologic examination and optical coherence tomography (OCT) were performed in 2 members of this family. Mutational screening was performed by single-strand conformation polymorphism (SSCP) and direct sequencing of PCR-amplified DNA fragments, corresponding to the 11 exons of the gene.
RESULTSSequence analysis identified a previously unreported C to G change, predicting a Phe-113-Leu substitution. Both the proband and his sister harboured this novel mutation. Each had bilateral vitelliform lesions.
CONCLUSIONSA novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.
Adult ; Bestrophins ; China ; Chloride Channels ; Eye Proteins ; genetics ; Female ; Humans ; Macular Degeneration ; genetics ; Male ; Mutation ; Pedigree
3.Direct conversion of human fibroblasts into retinal pigment epithelium-like cells by defined factors.
Kejing ZHANG ; Guang-Hui LIU ; Fei YI ; Nuria MONTSERRAT ; Tomoaki HISHIDA ; Concepcion Rodriguez ESTEBAN ; Juan Carlos IZPISUA BELMONTE
Protein & Cell 2014;5(1):48-58
The generation of functional retinal pigment epithelium (RPE) is of great therapeutic interest to the field of regenerative medicine and may provide possible cures for retinal degenerative diseases, including age-related macular degeneration (AMD). Although RPE cells can be produced from either embryonic stem cells or induced pluripotent stem cells, direct cell reprogramming driven by lineage-determining transcription factors provides an immediate route to their generation. By monitoring a human RPE specific Best1::GFP reporter, we report the conversion of human fibroblasts into RPE lineage using defined sets of transcription factors. We found that Best1::GFP positive cells formed colonies and exhibited morphological and molecular features of early stage RPE cells. Moreover, they were able to obtain pigmentation upon activation of Retinoic acid (RA) and Sonic Hedgehog (SHH) signaling pathways. Our study not only established an ideal platform to investigate the transcriptional network regulating the RPE cell fate determination, but also provided an alternative strategy to generate functional RPE cells that complement the use of pluripotent stem cells for disease modeling, drug screening, and cell therapy of retinal degeneration.
Animals
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Bestrophins
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Cell Differentiation
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Cell Line
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Cell Lineage
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Chloride Channels
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genetics
;
metabolism
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Embryonic Stem Cells
;
cytology
;
metabolism
;
Eye Proteins
;
genetics
;
metabolism
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Fibroblasts
;
cytology
;
metabolism
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Genes, Reporter
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Green Fluorescent Proteins
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genetics
;
metabolism
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Humans
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Mice
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Pigmentation
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Retinal Pigment Epithelium
;
cytology
;
metabolism
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Transcription Factors
;
metabolism