Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site
| Autor: | M J Denton, J D Chen, C G Keith |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty X Chromosome genetic structures Chromosomes Human Pair 21 Fundus Oculi Genetic Linkage Locus (genetics) Disease Biology Macular Degeneration Genetic linkage Ophthalmology Genetic variation Retinitis pigmentosa medicine Humans Photoreceptor Cells Pigment Epithelium of Eye Genetics (clinical) X chromosome Aged Genetics Genetic heterogeneity Chromosome Mapping Genetic Variation Macular degeneration Middle Aged medicine.disease eye diseases Pedigree Pediatrics Perinatology and Child Health Female sense organs Retinitis Pigmentosa |
| Zdroj: | Ophthalmic paediatrics and genetics. 12(2) |
| ISSN: | 0167-6784 |
| Popis: | One large Australian family with X-linked retinal dystrophy was found to have extreme clinical variability in the hemizygotes. One member had the typical rod-cone disease, three had the cone-rod pattern and one had macroscopic changes in the macular area only, but with low potentials in the ERG. The locus for the disease was found to be distal to L1.28 at Xp21, the site for RP3. From a study of case histories reported it seems that clinical variability can be a common feature of X-linked retinitis pigmentosa (XLRP) with the locus at Xp11.3 (RP2) or at Xp21 (RP3), and this family may well be categorized as XLRP. |
| Databáze: | OpenAIRE |
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