Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex

Stewart Thompson; Rebecca E H Whiting; Randy H Kardon; Edwin M Stone; Kristina Narfström

doi:10.1111/j.1463-5224.2010.00772.x

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Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex

Journal article

Open access

Peer reviewed

Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex

Stewart Thompson, Rebecca E H Whiting, Randy H Kardon, Edwin M Stone and Kristina Narfström

Veterinary ophthalmology, Vol.13(3), pp.151-157

05/2010

DOI: 10.1111/j.1463-5224.2010.00772.x

PMID: 20500714

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Abstract

To understand how progressive rod cone degeneration due to a mutation in CEP290 affects the pupillary light reflex (PLR) in domestic cats. Domestic cats identified as either normal wildtype (WT; n = 6), or homozygous for the rdAc mutation in CEP290 and having early stage retinal degeneration (stage 2, S2; n = 4), or advanced retinal degeneration (S4; n = 6). The effect of light on pupil size was measured over a series of 10-s pulses of white and chromatic light in cats lightly sedated with medetomidine. In WT cats, the PLR was characterized by a pronounced initial constriction that rapidly re-dilated during the stimulus (pupil escape), to a stable or sustained constriction. There was then a marked constriction at stimulus offset. Each component of the PLR was retained in affected cats, but with progressively reduced irradiance sensitivity from early to advanced retinal disease. The PLR of cats had multiple phases, with a remarkably high-amplitude 'paradoxical' off-constriction even in the absence of retinal disease. In rdAc cats, reduced irradiance sensitivity was consistent with progressive loss of rod and cone function. Based on previously characterized retinal pathology, this suggests the visual streak of the retina has a proportionally large contribution to PLR input. These findings support the hypothesis that the efficacy of planned therapeutic trials can be determined by careful evaluation of the PLR in cats.

Reflex, Pupillary - physiology

Cat Diseases - genetics

Cats

Animals

Genetic Testing

Retinal Degeneration - genetics

Cat Diseases - physiopathology

Reflex, Pupillary - genetics

Mutation

Retinal Degeneration - physiopathology

Retinal Degeneration - veterinary

Details

Title: Subtitle: Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex
Creators: Stewart Thompson - Howard Hughes Medical Institute and Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA 52242, USA
Rebecca E H Whiting
Randy H Kardon
Edwin M Stone
Kristina Narfström
Resource Type: Journal article
Publication Details: Veterinary ophthalmology, Vol.13(3), pp.151-157
DOI: 10.1111/j.1463-5224.2010.00772.x
PMID: 20500714
NLM abbreviation: Vet Ophthalmol
ISSN: 1463-5224
eISSN: 1463-5224
Publisher: England
Grant note: Howard Hughes Medical Institute
Language: English
Date published: 05/2010
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980024102771

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