Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome

Malm, EvaLund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine (author)

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: Full-field ERGs confirmed that Alström syndrome is associated with a cone-rod type of retinal degeneration. In this study, we have shown a striking variability in retinal function and disease onset and severity, which has, to our knowledge, not been described previously in Alström syndrome.

Ponjavic, VesnaLund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)oft-vpo (author)
Nishina, Patsy M. (author)
Naggert, Jürgen K. (author)
Hinman, Elizabeth G. (author)
Andréasson, StenLund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)oft-san (author)
Marshall, Jan D. (author)
Möller, ClaesÖrebro universitet,Hälsoakademin(Swepub:oru)cmr (author)
Oftalmologi, LundSektion IV (creator_code:org_t)

In:Archives of ophthalmology (1960)Chicago : American medical association126:1, s. 51-570003-9950

By the author/editor: Malm, Eva; Ponjavic, Vesna; Nishina, Patsy M ...; Naggert, Jürgen ...; Hinman, Elizabet ...; Andréasson, Sten; show more...; Marshall, Jan D.; Möller, Claes; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Ophthalmology

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