Multimodal imaging in CABP4-related retinopathy

Patrik Schatz, Maram E A Abdalla Elsayed, Arif O. Khan

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Abstract

Purpose: Multimodal imaging has not been documented for CABP4-related retinopathy. In this study, we describe optical coherence tomography (OCT) and fundus autofluorescence findings for five genetically confirmed cases. Methods: Retrospective case series. Results: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined. The ages ranged between 9 and 16 years at last follow-up, and the duration of follow-up ranged from 2 to 12 years. Foveal thickness was reduced ranging between 175 and 212 micrometers. Wide field imaging including fundus autofluorescence was unremarkable. All patients presented with a negative electroretinogram, with a variable amount of cone and rod dysfunction. Over follow-up, there was no electroretinographic indication of any progressive retinal dysfunction. Conclusions: Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up.

Original languageEnglish
Pages (from-to)459-464
Number of pages6
JournalOphthalmic Genetics
Volume38
Issue number5
Early online date2017 Mar 2
DOIs
Publication statusPublished - 2017

Subject classification (UKÄ)

  • Ophthalmology

Free keywords

  • CABP4
  • congenital stationary night blindness
  • optical coherence tomography

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