Abstract | OBJECTIVES: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS: Three age- and sex-matched patients with Alström syndrome were selected from our retinitis pigmentosa register for repeated ophthalmologic examinations that included tests for color vision and visual fields using Goldmann perimetry and for repeated assessment of full-field ERGs. RESULTS: Electroretinography demonstrated cone-rod degeneration in all 3 patients. A concomitant impairment of color vision and visual fields was also observed as well as marked variation in retinal function and in disease severity. CONCLUSIONS:
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Authors | Eva Malm, Vesna Ponjavic, Patsy M Nishina, Jürgen K Naggert, Elizabeth G Hinman, Sten Andréasson, Jan D Marshall, Claes Möller |
Journal | Archives of ophthalmology (Chicago, Ill. : 1960)
(Arch Ophthalmol)
Vol. 126
Issue 1
Pg. 51-7
(Jan 2008)
ISSN: 0003-9950 [Print] United States |
PMID | 18195218
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- ALMS1 protein, human
- Cell Cycle Proteins
- Proteins
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Topics |
- Abnormalities, Multiple
(genetics, physiopathology)
- Cell Cycle Proteins
- Child
- Color Vision Defects
(physiopathology)
- DNA Mutational Analysis
- Electroretinography
- Female
- Hearing Loss, Sensorineural
(genetics, physiopathology)
- Humans
- Mutation
- Obesity
(genetics, physiopathology)
- Phenotype
- Photoreceptor Cells, Vertebrate
(physiology)
- Polymerase Chain Reaction
- Proteins
(genetics)
- Retinitis Pigmentosa
(genetics, physiopathology)
- Syndrome
- Vision Disorders
(physiopathology)
- Visual Field Tests
- Visual Fields
(physiology)
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