Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy

Sirichai Pasadhika; Gerald A Fishman; Rando Allikmets; Edwin M Stone

doi:10.1016/j.ajo.2009.03.001

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Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy

Journal article

Open access

Peer reviewed

Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy

Sirichai Pasadhika, Gerald A Fishman, Rando Allikmets and Edwin M Stone

American journal of ophthalmology, Vol.148(2), pp.260-265.e1

08/2009

DOI: 10.1016/j.ajo.2009.03.001

PMCID: PMC2976650

PMID: 19406377

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Abstract

To evaluate peripapillary retinal nerve fiber layer (RNFL) thickness using spectral-domain optical coherence tomography in patients with autosomal recessive cone-rod dystrophy (CRD). Cross-sectional study. Eleven patients (22 eyes) with CRD were studied, including 4 patients with identified ABCA4 gene mutations. Peripapillary RNFL thickness was measured in 16 segments from 4 quadrants. The analyses were based on age and disc size-adjusted normative data. An abnormal thinning was considered when RNFL thickness measurements were less than the fifth percentile in at least 2 of 4 segments in a quadrant. Mean RNFL thickness was compared quantitatively with normative data obtained from 134 subjects. Eight patients (73%) had peripapillary RNFL thinning in at least 1 quadrant of at least 1 eye, including 3 of 4 patients with known ABCA4 gene mutations. Peripapillary RNFL thinning in the temporal quadrant was seen most commonly in 11 (79%) of 14 eyes with thinning in at least 1 quadrant. Significant thinning of the overall peripapillary RNFL was observed in CRD patients compared with controls (P = .0002). Subgroup analysis showed that 8 (89%) of 9 patients who were older than 40 years had thinning in at least 1 quadrant of at least 1 eye. Peripapillary RNFL thinning was observed commonly in our patients with autosomal recessive CRD. The results confirm that the inner retinal structures can be affected in outer retinal disease. Careful evaluation of the inner retina may be important in determining the success rate of potential treatments for predominantly outer retinal diseases.

Nerve Fibers - pathology

Retinal Degeneration - diagnosis

Retinal Degeneration - genetics

Tomography, Optical Coherence

Humans

Middle Aged

Male

Genes, Recessive

Retinal Ganglion Cells - pathology

ATP-Binding Cassette Transporters - genetics

Adolescent

Adult

Female

Aged

Child

Photoreceptor Cells, Vertebrate - pathology

Optic Disk - pathology

Details

Title: Subtitle: Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy
Creators: Sirichai Pasadhika - Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60612, USA
Gerald A Fishman
Rando Allikmets
Edwin M Stone
Resource Type: Journal article
Publication Details: American journal of ophthalmology, Vol.148(2), pp.260-265.e1
DOI: 10.1016/j.ajo.2009.03.001
PMID: 19406377
PMCID: PMC2976650
NLM abbreviation: Am J Ophthalmol
ISSN: 0002-9394
eISSN: 1879-1891
Publisher: United States
Grant note: EY01792 / NEI NIH HHS R01 EY016822 / NEI NIH HHS Howard Hughes Medical Institute P30 EY001792 / NEI NIH HHS R01 EY016822-04 / NEI NIH HHS EY13435 / NEI NIH HHS R01 EY013435 / NEI NIH HHS EY016822 / NEI NIH HHS P30 EY001792-30 / NEI NIH HHS
Language: English
Date published: 08/2009
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979914102771

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