Tags

Type your tag names separated by a space and hit enter

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
Invest Ophthalmol Vis Sci. 1998 Nov; 39(12):2417-26.IO

Abstract

PURPOSE

To define the phenotypes of retinal degenerations associated with mutations in the gene encoding CRX (cone-rod homeobox), a photoreceptor-specific transcription factor.

METHODS

Heterozygotes with the E168 [delta1 bp], E168 [delta2 bp], or G217 [delta1 bp] CRXgene mutation were studied clinically, with visual function tests, including rod and cone perimetry and electroretinography (ERG), and with optical coherence tomography (OCT).

RESULTS

Clinical diagnoses included autosomal dominant cone-rod dystrophy in one family (E168 [delta1 bp] mutation) and simplex Leber congenital amaurosis in two families (E168 [delta2 bp], G217 [delta1 bp] mutations). In the family with the E168 [delta1 bp] mutation, two siblings had relatively mild disease expression in the third decade of life. The central retinas of these two patients had profound loss of rod and short wavelength cone function; long/middle wavelength cone thresholds were elevated at fixation, but there were greater paracentral than central abnormalities. Peripheral retinal dysfunction was evident by psychophysics and by maximum amplitude loss for rod- and cone-isolated ERG photoreceptor responses. OCT cross-sectional reflectance images showed decreased central retinal thickness consistent with photoreceptor loss. An additional member of this family (E168 [delta1 bp] mutation) and two other patients (representing E168 [delta2 bp] and G217 [delta1 bp] mutations) had a severe phenotype with retina-wide loss of function and islands of function remaining only in the temporal periphery.

CONCLUSIONS

Truncation mutations in CRX are associated with retinopathies that share phenotypic features but vary in disease severity. The disease mechanism could involve abnormal photoreceptor development compounded by a disturbance in the maintenance of photoreceptors in the mature retina.

Authors+Show Affiliations

Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia 19104, USA.No 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
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

9804150

Citation

Jacobson, S G., et al. "Retinal Degenerations With Truncation Mutations in the Cone-rod Homeobox (CRX) Gene." Investigative Ophthalmology & Visual Science, vol. 39, no. 12, 1998, pp. 2417-26.
Jacobson SG, Cideciyan AV, Huang Y, et al. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci. 1998;39(12):2417-26.
Jacobson, S. G., Cideciyan, A. V., Huang, Y., Hanna, D. B., Freund, C. L., Affatigato, L. M., Carr, R. E., Zack, D. J., Stone, E. M., & McInnes, R. R. (1998). Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Investigative Ophthalmology & Visual Science, 39(12), 2417-26.
Jacobson SG, et al. Retinal Degenerations With Truncation Mutations in the Cone-rod Homeobox (CRX) Gene. Invest Ophthalmol Vis Sci. 1998;39(12):2417-26. PubMed PMID: 9804150.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. AU - Jacobson,S G, AU - Cideciyan,A V, AU - Huang,Y, AU - Hanna,D B, AU - Freund,C L, AU - Affatigato,L M, AU - Carr,R E, AU - Zack,D J, AU - Stone,E M, AU - McInnes,R R, PY - 1998/11/6/pubmed PY - 1998/11/6/medline PY - 1998/11/6/entrez SP - 2417 EP - 26 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 39 IS - 12 N2 - PURPOSE: To define the phenotypes of retinal degenerations associated with mutations in the gene encoding CRX (cone-rod homeobox), a photoreceptor-specific transcription factor. METHODS: Heterozygotes with the E168 [delta1 bp], E168 [delta2 bp], or G217 [delta1 bp] CRXgene mutation were studied clinically, with visual function tests, including rod and cone perimetry and electroretinography (ERG), and with optical coherence tomography (OCT). RESULTS: Clinical diagnoses included autosomal dominant cone-rod dystrophy in one family (E168 [delta1 bp] mutation) and simplex Leber congenital amaurosis in two families (E168 [delta2 bp], G217 [delta1 bp] mutations). In the family with the E168 [delta1 bp] mutation, two siblings had relatively mild disease expression in the third decade of life. The central retinas of these two patients had profound loss of rod and short wavelength cone function; long/middle wavelength cone thresholds were elevated at fixation, but there were greater paracentral than central abnormalities. Peripheral retinal dysfunction was evident by psychophysics and by maximum amplitude loss for rod- and cone-isolated ERG photoreceptor responses. OCT cross-sectional reflectance images showed decreased central retinal thickness consistent with photoreceptor loss. An additional member of this family (E168 [delta1 bp] mutation) and two other patients (representing E168 [delta2 bp] and G217 [delta1 bp] mutations) had a severe phenotype with retina-wide loss of function and islands of function remaining only in the temporal periphery. CONCLUSIONS: Truncation mutations in CRX are associated with retinopathies that share phenotypic features but vary in disease severity. The disease mechanism could involve abnormal photoreceptor development compounded by a disturbance in the maintenance of photoreceptors in the mature retina. SN - 0146-0404 UR - https://www.unboundmedicine.com/medline/citation/9804150/Retinal_degenerations_with_truncation_mutations_in_the_cone_rod_homeobox__CRX__gene_ L2 - http://iovs.arvojournals.org/article.aspx?volume=39&page=2417 DB - PRIME DP - Unbound Medicine ER -