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Article

Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene.

Ophthalmic genetics - 1 Jun 2001

Gränse L, Abrahamson M, Ponjavic V, Andréasson S

Abstract excerpt

PURPOSE: To characterize the clinical phenotype, with emphasis on electrophysiology, of two children with suspected Bothnia dystrophy. METHODS: Two unrelated affected patients, 10 and 11 years old, were studied. Ophthalmological examination included testing of visual acuity, fundus inspection and fundus photography, kinetic perimetry, full-field electroretinogram (ERG), and multifocal ERG. The presence of a...

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Source

Identifiers

PMID: 11449319
DOI: 10.1076/opge.22.2.97.2231

Genes

ERG
RLBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene.PMID 11449319Read ↗

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