British Journal of Ophthalmology · 1991 · 17 citations · 16 references
Life SciencesGeneticsOphthalmologyCytogeneticsHuman GeneticsOcular GeneticsChromosome AberrationsDevelopmental Disorders Of VisionNumerical Chromosome AbnormalitiesRetinal DiseaseRetinal DisordersRetinal Pigment EpitheliumCongenital Retinal DisordersDevelopmental Eye Disorder GeneticsDevelopmental Retinal DisordersInherited Retinal Disorders Affecting Color VisionPhotoreceptor MorphologyRetina HistologyRetinal Pigment Epithelium Disorders
We report the case of a mentally retarded male with a ring 17 chromosome who had subretinal drusen-like deposits in each eye. This is the second report of flecked retina in a patient with ring 17 chromosome, suggesting that there may be a causal relationship between abnormalities of chromosome 17 and retinal pigment epithelial or photoreceptor dysfunction.
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Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17
David Barker, E Wright, K. Nguyen et al. · Science · 1987 · 698 citations
Stereoscopic Atlas of Macular Diseases
A. H.F. · Archives of Ophthalmology · 1971 · 259 citations
Retinal pigment epithelial detachments in the elderly.
Alan C. Bird, John Marshall · PubMed · 1986 · 191 citations