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CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Invest Ophthalmol Vis Sci. 2009 Dec; 50(12):5944-54.IO

Abstract

PURPOSE

To define the phenotype of the retinal degeneration associated with mutations in the CERKL gene.

METHODS

Six patients (ages, 26-54 years) from three unrelated families with CERKL mutations were studied clinically and by electroretinography, kinetic, and chromatic static perimetry, autofluorescence (AF) imaging, and optical coherence tomography (OCT).

RESULTS

Three siblings were homozygotes for p.R257X mutation; two siblings were compound heterozygotes for p.R257X and a novel p.C362X mutation; and one patient had only p.R257X mutation identified to date. There was a spectrum of severity: from mild visual acuity loss to light perception; from full kinetic fields with relative central scotomas to remnant peripheral islands; from reduced ERGs (some with negative waveforms) to nondetectable signals. Maculopathy showed residual foveal islands or extensive central rod and cone scotomas. With AF imaging, there was evidence of hyperautofluorescence at earlier and hypoautofluorescence at later disease stages. Peripheral function was generally less affected than central function. With OCT there were small foveal islands of outer nuclear layer (ONL) in those with preserved acuity. Eccentric to an annular region with no discernible ONL, there could be ONL in the midperiphery. At early disease stages, ganglion cell layer thickness was less affected than ONL. Later disease stages were accompanied by inner nuclear layer and nerve fiber layer abnormalities.

CONCLUSIONS

CERKL mutations are associated with widespread retinal degeneration with prominent maculopathy. The clinical presentation is that of an autosomal recessive cone-rod dystrophy. Photoreceptor loss appears at all stages of disease and inner laminopathy complicates the phenotype at later stages.

Authors+Show Affiliations

Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. aleman@mail.med.upenn.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19578027

Citation

Aleman, Tomas S., et al. "CERKL Mutations Cause an Autosomal Recessive Cone-rod Dystrophy With Inner Retinopathy." Investigative Ophthalmology & Visual Science, vol. 50, no. 12, 2009, pp. 5944-54.
Aleman TS, Soumittra N, Cideciyan AV, et al. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol Vis Sci. 2009;50(12):5944-54.
Aleman, T. S., Soumittra, N., Cideciyan, A. V., Sumaroka, A. M., Ramprasad, V. L., Herrera, W., Windsor, E. A., Schwartz, S. B., Russell, R. C., Roman, A. J., Inglehearn, C. F., Kumaramanickavel, G., Stone, E. M., Fishman, G. A., & Jacobson, S. G. (2009). CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Investigative Ophthalmology & Visual Science, 50(12), 5944-54. https://doi.org/10.1167/iovs.09-3982
Aleman TS, et al. CERKL Mutations Cause an Autosomal Recessive Cone-rod Dystrophy With Inner Retinopathy. Invest Ophthalmol Vis Sci. 2009;50(12):5944-54. PubMed PMID: 19578027.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. AU - Aleman,Tomas S, AU - Soumittra,Nagasamy, AU - Cideciyan,Artur V, AU - Sumaroka,Alexander M, AU - Ramprasad,Vedam Lakshmi, AU - Herrera,Waldo, AU - Windsor,Elizabeth A M, AU - Schwartz,Sharon B, AU - Russell,Robert C, AU - Roman,Alejandro J, AU - Inglehearn,Chris F, AU - Kumaramanickavel,Govindasamy, AU - Stone,Edwin M, AU - Fishman,Gerald A, AU - Jacobson,Samuel G, Y1 - 2009/07/02/ PY - 2009/7/7/entrez PY - 2009/7/7/pubmed PY - 2009/12/24/medline SP - 5944 EP - 54 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 50 IS - 12 N2 - PURPOSE: To define the phenotype of the retinal degeneration associated with mutations in the CERKL gene. METHODS: Six patients (ages, 26-54 years) from three unrelated families with CERKL mutations were studied clinically and by electroretinography, kinetic, and chromatic static perimetry, autofluorescence (AF) imaging, and optical coherence tomography (OCT). RESULTS: Three siblings were homozygotes for p.R257X mutation; two siblings were compound heterozygotes for p.R257X and a novel p.C362X mutation; and one patient had only p.R257X mutation identified to date. There was a spectrum of severity: from mild visual acuity loss to light perception; from full kinetic fields with relative central scotomas to remnant peripheral islands; from reduced ERGs (some with negative waveforms) to nondetectable signals. Maculopathy showed residual foveal islands or extensive central rod and cone scotomas. With AF imaging, there was evidence of hyperautofluorescence at earlier and hypoautofluorescence at later disease stages. Peripheral function was generally less affected than central function. With OCT there were small foveal islands of outer nuclear layer (ONL) in those with preserved acuity. Eccentric to an annular region with no discernible ONL, there could be ONL in the midperiphery. At early disease stages, ganglion cell layer thickness was less affected than ONL. Later disease stages were accompanied by inner nuclear layer and nerve fiber layer abnormalities. CONCLUSIONS: CERKL mutations are associated with widespread retinal degeneration with prominent maculopathy. The clinical presentation is that of an autosomal recessive cone-rod dystrophy. Photoreceptor loss appears at all stages of disease and inner laminopathy complicates the phenotype at later stages. SN - 1552-5783 UR - https://www.unboundmedicine.com/medline/citation/19578027/CERKL_mutations_cause_an_autosomal_recessive_cone_rod_dystrophy_with_inner_retinopathy_ L2 - http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.09-3982 DB - PRIME DP - Unbound Medicine ER -