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An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group.
A common detection and classification system is needed for epidemiologic studies of age-related maculopathy (ARM). Such a grading scheme for ARM is described in this paper. ARM is defined as a… Expand
Clinical classification of age-related macular degeneration.
OBJECTIVE To develop a clinical classification system for age-related macular degeneration (AMD). DESIGN Evidence-based investigation, using a modified Delphi process. PARTICIPANTS Twenty-six AMD… Expand
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
The gene RPGR was previously identified in the RP3 region of Xp21.1 and shown to be mutated in 10–20% of patients with the progressive retinal degeneration X-linked retinitis pigmentosa (XLRP). The… Expand
Complement C3 variant and the risk of age-related macular degeneration.
BACKGROUND Age-related macular degeneration is the most common cause of blindness in Western populations. Susceptibility is influenced by age and by genetic and environmental factors. Complement… Expand
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-white deposits known as drusen that accumulate beneath the… Expand
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
- E. N. Vithana, L. Abu-Safieh, +10 authors S. Bhattacharya
- Biology, Medicine
- Molecular cell
- 1 August 2001
We report mutations in a gene (PRPF31) homologous to Saccharomyces cerevisiae pre-mRNA splicing gene PRP31 in families with autosomal dominant retinitis pigmentosa linked to chromosome 19q13.4 (RP11;… Expand
Aging changes in Bruch's membrane. A histochemical and morphologic study.
Using histochemical staining techniques and electron microscopy, the authors have examined the histochemical properties and ultrastructure of Bruch's membrane in 30 human eyes with an age range of 1… Expand
FUNDUS AUTOFLUORESCENCE IMAGING: Review and Perspectives
Fundus autofluorescence (FAF) imaging is a novel imaging method that allows topographic mapping of lipofuscin distribution in the retinal pigment epithelium cell monolayer as well as of other… Expand
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
- A. Payne, S. Downes, +5 authors S. Bhattacharya
- Biology, Medicine
- Human molecular genetics
- 1 February 1998
We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1), in a family with autosomal dominant cone dystrophy. Linkage analysis… Expand
Distribution of fundus autofluorescence with a scanning laser ophthalmoscope.
BACKGROUND--Variation of fluorescence derived from lipofuscin in the retinal pigment epithelium has been recorded with age and in retinal diseases. Studies have been based largely on in vitro… Expand