
Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations
- Author
- Mays Talib, Mary J. van Schooneveld, Roos J. G. van Duuren, Caroline Van Cauwenbergh (UGent) , Jacoline B. ten Brink, Elfride De Baere (UGent) , Ralph J. Florijn, Nicoline E. Schalij-Delfos, Bart Leroy (UGent) , Arthur A. Bergen and Camiel J. F. Boon
- Organization
- Abstract
- Purpose: To investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing treatment options. Methods: A retrospective cohort of 13 patients with LRAT-RDs. Results: Twelve patients from a genetic isolate carried a homozygous c.12del mutation. One unrelated patient carried a homozygous c.326G>T mutation. The mean follow-up time was 25.3 years (SD 15.2; range 4.8-53.5). The first symptom was nyctalopia (n = 11), central vision loss (n = 1), or light-gazing (n = 1), and was noticed in the first decade of life. Seven patients (54%) reached low vision (visual acuity < 20/67), four of whom reaching blindness (visual acuity < 20/400), respectively, at mean ages of 49.9 (SE 5.4) and 59.9 (SE 3.1) years. The fundus appearance was variable. Retinal white dots were seen in six patients (46%). Full-field electroretinograms (n = 11) were nondetectable (n = 2; ages 31-60), reduced in a nonspecified pattern (n = 2; ages 11-54), or showed rod-cone (n = 6; ages 38-48) or cone-rod (n = 1; age 29) dysfunction. Optical coherence tomography (n = 4) showed retinal thinning but relative preservation of the (para-)foveal outer retinal layers in the second (n = 1) and sixth decade of life (n = 2), and profound chorioretinal degeneration from the eighth decade of life (n = 1). Conclusions: LRAT-associated phenotypes in this cohort were variable and unusual, but generally milder than those seen in RPE65-associated disease, and may be particularly amenable to treatment. The window of therapeutic opportunity can be extended in patients with a mild phenotype. Translational Relevance: Knowledge of the natural history of LRAT-RDs is essential in determining the window of opportunity in ongoing and future clinical trials for novel therapeutic options.
- Keywords
- LRAD, retinal dystrophy, retinitis pigmentosa, cone-rod degeneration, disease progression, genetic diseases, LEBER CONGENITAL AMAUROSIS, RETINITIS-PIGMENTOSA, TUNISIAN FAMILIES, DOMINANT MUTATION, GENE-THERAPY, DYSTROPHY, CHILDHOOD, ACYLTRANSFERASE, HETEROGENEITY, PROGRESSION
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Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-8644656
- MLA
- Talib, Mays, et al. “Long-Term Follow-up of Retinal Degenerations Associated with LRAT Mutations and Their Comparability to Phenotypes Associated with RPE65 Mutations.” TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, vol. 8, no. 4, 2019, doi:10.1167/tvst.8.4.24.
- APA
- Talib, M., van Schooneveld, M. J., van Duuren, R. J. G., Van Cauwenbergh, C., ten Brink, J. B., De Baere, E., … Boon, C. J. F. (2019). Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations. TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, 8(4). https://doi.org/10.1167/tvst.8.4.24
- Chicago author-date
- Talib, Mays, Mary J. van Schooneveld, Roos J. G. van Duuren, Caroline Van Cauwenbergh, Jacoline B. ten Brink, Elfride De Baere, Ralph J. Florijn, et al. 2019. “Long-Term Follow-up of Retinal Degenerations Associated with LRAT Mutations and Their Comparability to Phenotypes Associated with RPE65 Mutations.” TRANSLATIONAL VISION SCIENCE & TECHNOLOGY 8 (4). https://doi.org/10.1167/tvst.8.4.24.
- Chicago author-date (all authors)
- Talib, Mays, Mary J. van Schooneveld, Roos J. G. van Duuren, Caroline Van Cauwenbergh, Jacoline B. ten Brink, Elfride De Baere, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Bart Leroy, Arthur A. Bergen, and Camiel J. F. Boon. 2019. “Long-Term Follow-up of Retinal Degenerations Associated with LRAT Mutations and Their Comparability to Phenotypes Associated with RPE65 Mutations.” TRANSLATIONAL VISION SCIENCE & TECHNOLOGY 8 (4). doi:10.1167/tvst.8.4.24.
- Vancouver
- 1.Talib M, van Schooneveld MJ, van Duuren RJG, Van Cauwenbergh C, ten Brink JB, De Baere E, et al. Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations. TRANSLATIONAL VISION SCIENCE & TECHNOLOGY. 2019;8(4).
- IEEE
- [1]M. Talib et al., “Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations,” TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, vol. 8, no. 4, 2019.
@article{8644656, abstract = {{Purpose: To investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing treatment options. Methods: A retrospective cohort of 13 patients with LRAT-RDs. Results: Twelve patients from a genetic isolate carried a homozygous c.12del mutation. One unrelated patient carried a homozygous c.326G>T mutation. The mean follow-up time was 25.3 years (SD 15.2; range 4.8-53.5). The first symptom was nyctalopia (n = 11), central vision loss (n = 1), or light-gazing (n = 1), and was noticed in the first decade of life. Seven patients (54%) reached low vision (visual acuity < 20/67), four of whom reaching blindness (visual acuity < 20/400), respectively, at mean ages of 49.9 (SE 5.4) and 59.9 (SE 3.1) years. The fundus appearance was variable. Retinal white dots were seen in six patients (46%). Full-field electroretinograms (n = 11) were nondetectable (n = 2; ages 31-60), reduced in a nonspecified pattern (n = 2; ages 11-54), or showed rod-cone (n = 6; ages 38-48) or cone-rod (n = 1; age 29) dysfunction. Optical coherence tomography (n = 4) showed retinal thinning but relative preservation of the (para-)foveal outer retinal layers in the second (n = 1) and sixth decade of life (n = 2), and profound chorioretinal degeneration from the eighth decade of life (n = 1). Conclusions: LRAT-associated phenotypes in this cohort were variable and unusual, but generally milder than those seen in RPE65-associated disease, and may be particularly amenable to treatment. The window of therapeutic opportunity can be extended in patients with a mild phenotype. Translational Relevance: Knowledge of the natural history of LRAT-RDs is essential in determining the window of opportunity in ongoing and future clinical trials for novel therapeutic options.}}, articleno = {{24}}, author = {{Talib, Mays and van Schooneveld, Mary J. and van Duuren, Roos J. G. and Van Cauwenbergh, Caroline and ten Brink, Jacoline B. and De Baere, Elfride and Florijn, Ralph J. and Schalij-Delfos, Nicoline E. and Leroy, Bart and Bergen, Arthur A. and Boon, Camiel J. F.}}, issn = {{2164-2591}}, journal = {{TRANSLATIONAL VISION SCIENCE & TECHNOLOGY}}, keywords = {{LRAD,retinal dystrophy,retinitis pigmentosa,cone-rod degeneration,disease progression,genetic diseases,LEBER CONGENITAL AMAUROSIS,RETINITIS-PIGMENTOSA,TUNISIAN FAMILIES,DOMINANT MUTATION,GENE-THERAPY,DYSTROPHY,CHILDHOOD,ACYLTRANSFERASE,HETEROGENEITY,PROGRESSION}}, language = {{eng}}, number = {{4}}, pages = {{15}}, title = {{Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations}}, url = {{http://doi.org/10.1167/tvst.8.4.24}}, volume = {{8}}, year = {{2019}}, }
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