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PMID: 2043573 Published · ppublish English Case Reports Journal Article

Dominant cone dystrophy starting with blue cone involvement.

The British journal of ophthalmology ·Vol. 75 ·No. 6 ·1991-06-00 ·Pages 332-6

van Schooneveld MJ, Went LN, Oosterhuis JA

Abstract

The results of ophthalmological and colour vision studies are reported on 13 patients from a family with a dominant cone dystrophy spanning seven generations. The onset of visual deterioration occurred in the third or fourth decade. In the early stages of the disease, when visual acuity is still close to normal, a severe defect in the blue sensitivity is already present, as measured by spectral sensitivity curves and other tests suitable for the detection of tritan defects. In our opinion this condition represents a distinct entity with autosomal dominant inheritance.

MeSH Terms
Adult Age Factors Color Perception/genetics,physiology Color Vision Defects/diagnosis,genetics,physiopathology Female Fluorescein Angiography Humans Macular Degeneration/diagnosis,genetics,physiopathology Male Middle Aged Pedigree Photoreceptor Cells/physiopathology Visual Acuity/physiology
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
van Schooneveld M J
Netherlands Ophthalmic Research Institute, Amsterdam.
Went L N
Oosterhuis J A
References (12)
12 references, click to expand
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Article Info
Journal
The British journal of ophthalmology
Abbr.
Br J Ophthalmol
ISSN
0007-1161
Published
1991-06-00
Pages
332-6
Language
English
Region
England
NLM ID
0421041
PMCID
PMC1042376
Subset
IM
Corrections
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