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Article

Retinal findings in a patient of French ancestry with CABP4-related retinal disease.

Documenta ophthalmologica. Advances in ophthalmology - 1 Apr 2018

Smirnov Vasily Mikhaïlovitch, Zeitz Christina, Soumittra Nagasamy, Audo Isabelle, Defoort-Dhellemmes Sabine

Abstract excerpt

INTRODUCTION: CABP4-related retinal dysfunction is a cone-rod synaptic transmission disorder with electronegative electroretinogram (ERG) waveform. It is a rare retinal dysfunction that can be classified into the incomplete form of congenital stationary night blindness. Absent foveal reflex and overall foveal thinning were previously reported, but in most cases the fundus appearance was described as nearly...

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Source

Identifiers

PMID: 29525873
DOI: 10.1007/s10633-018-9629-y

Genes

CABP4
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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