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The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Invest Ophthalmol Vis Sci. 2007 Apr; 48(4):1824-31.IO

Abstract

PURPOSE

To describe the retinal dystrophy phenotype associated with mutations in RDH12, the gene encoding a retinoid dehydrogenase/reductase expressed in the photoreceptor cells.

METHODS

Sixteen persons from 12 families with pathogenic RDH12 mutations on both alleles were studied. Retinal phenotypes were characterized by ophthalmic examination, including psychophysical and standardized electrophysiological methods and multifocal electroretinography (mfERG).

RESULTS

The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. These individuals appeared to share a common clinical picture, independent of the type of mutation, characterized by poor, yet useful visual function in early life, followed by progressive decline due to both rod and cone degeneration. Marked pigmentary retinopathy, including bone spicules in the peripheral retina, was present in all persons older than age 6, and pronounced maculopathy was evident in persons older than 7 years. A unique view into the progressive nature of the disorder was achieved by evaluation of seven affected persons from three consanguineous families, all carrying the homozygous p.Y226C mutation.

CONCLUSIONS

Ophthalmic findings in persons with RDH12 mutations suggest that RDH12 loss-of-function results in a characteristic form of early and progressive rod-cone degeneration distinct from that caused by mutations in other LCA genes. From our data, it seems likely that various clinical designations appropriately describe the diagnosis in these persons, including early-onset retinitis pigmentosa, LCA type II, and childhood retinal dystrophy.

Authors+Show Affiliations

Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Schleichstrasse 12-16, D-72076 Tübingen, Germany.No 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

17389517

Citation

Schuster, Andreas, et al. "The Phenotype of Early-onset Retinal Degeneration in Persons With RDH12 Mutations." Investigative Ophthalmology & Visual Science, vol. 48, no. 4, 2007, pp. 1824-31.
Schuster A, Janecke AR, Wilke R, et al. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. Invest Ophthalmol Vis Sci. 2007;48(4):1824-31.
Schuster, A., Janecke, A. R., Wilke, R., Schmid, E., Thompson, D. A., Utermann, G., Wissinger, B., Zrenner, E., & Gal, A. (2007). The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. Investigative Ophthalmology & Visual Science, 48(4), 1824-31.
Schuster A, et al. The Phenotype of Early-onset Retinal Degeneration in Persons With RDH12 Mutations. Invest Ophthalmol Vis Sci. 2007;48(4):1824-31. PubMed PMID: 17389517.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. AU - Schuster,Andreas, AU - Janecke,Andreas R, AU - Wilke,Robert, AU - Schmid,Eduard, AU - Thompson,Debra A, AU - Utermann,Gerd, AU - Wissinger,Bernd, AU - Zrenner,Eberhart, AU - Gal,Andreas, PY - 2007/3/29/pubmed PY - 2007/5/15/medline PY - 2007/3/29/entrez SP - 1824 EP - 31 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 48 IS - 4 N2 - PURPOSE: To describe the retinal dystrophy phenotype associated with mutations in RDH12, the gene encoding a retinoid dehydrogenase/reductase expressed in the photoreceptor cells. METHODS: Sixteen persons from 12 families with pathogenic RDH12 mutations on both alleles were studied. Retinal phenotypes were characterized by ophthalmic examination, including psychophysical and standardized electrophysiological methods and multifocal electroretinography (mfERG). RESULTS: The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. These individuals appeared to share a common clinical picture, independent of the type of mutation, characterized by poor, yet useful visual function in early life, followed by progressive decline due to both rod and cone degeneration. Marked pigmentary retinopathy, including bone spicules in the peripheral retina, was present in all persons older than age 6, and pronounced maculopathy was evident in persons older than 7 years. A unique view into the progressive nature of the disorder was achieved by evaluation of seven affected persons from three consanguineous families, all carrying the homozygous p.Y226C mutation. CONCLUSIONS: Ophthalmic findings in persons with RDH12 mutations suggest that RDH12 loss-of-function results in a characteristic form of early and progressive rod-cone degeneration distinct from that caused by mutations in other LCA genes. From our data, it seems likely that various clinical designations appropriately describe the diagnosis in these persons, including early-onset retinitis pigmentosa, LCA type II, and childhood retinal dystrophy. SN - 0146-0404 UR - https://www.unboundmedicine.com/medline/citation/17389517/The_phenotype_of_early_onset_retinal_degeneration_in_persons_with_RDH12_mutations_ L2 - http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.06-0628 DB - PRIME DP - Unbound Medicine ER -