This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (42)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Ophthalmological Disorders, Other  • Diagnosis  • Genetics  • Genetic Disorders  • Alert me on articles by topic  Social Bookmarking   What's this?

Stephen P. Daiger, PhD; Sara J. Bowne, PhD; Lori S. Sullivan, PhD

Arch Ophthalmol. 2007;125(2):151-158.

Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa. An inescapable consequence is that the relationship between genes, mutations, and clinical findings has become very complex. Success in identifying the causes of inherited retinal diseases has many implications, including a better understanding of the biological basis of vision and insights into the processes involved in retinal pathology. From a clinical point of view, there are two important questions arising from these developments: where do we stand today in finding disease-causing mutations in affected individuals, and what are the implications of this information for clinical practice? This perspective addresses these questions specifically for retinitis pigmentosa, but the observations apply generally to other forms of inherited eye disease.

Author Affiliations: Department of Ophthalmology and Visual Science, School of Medicine (Dr Daiger) and Human Genetics Center, School of Public Health (Drs Daiger, Bowne, and Sullivan), The University of Texas Health Science Center, Houston, Tex.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
Won et al.
Hum Mol Genet 2009;18:4329-4339.
ABSTRACT | FULL TEXT  

Identification of an Intronic Single-Point Mutation in RP2 as the Cause of Semidominant X-linked Retinitis Pigmentosa
Pomares et al.
IOVS 2009;50:5107-5114.
ABSTRACT | FULL TEXT  

Supernormal ERG Oscillatory Potentials in Transgenic Rabbit with Rhodopsin P347L Mutation and Retinal Degeneration
Sakai et al.
IOVS 2009;50:4402-4409.
ABSTRACT | FULL TEXT  

Biphasic Photoreceptor Degeneration Induced by Light in a T17M Rhodopsin Mouse Model of Cone Bystander Damage
Krebs et al.
IOVS 2009;50:2956-2965.
ABSTRACT | FULL TEXT  

Predicting Visual Sensitivity in Retinal Prosthesis Patients
Horsager et al.
IOVS 2009;50:1483-1491.
ABSTRACT | FULL TEXT  

Generation of a Transgenic Rabbit Model of Retinal Degeneration
Kondo et al.
IOVS 2009;50:1371-1377.
ABSTRACT | FULL TEXT  

Mutation of a TADR Protein Leads to Rhodopsin and Gq-Dependent Retinal Degeneration in Drosophila
Ni et al.
J. Neurosci. 2008;28:13478-13487.
ABSTRACT | FULL TEXT  

Sialoadhesin Expression in Intact Degenerating Retinas and Following Transplantation
Sancho-Pelluz et al.
IOVS 2008;49:5602-5610.
ABSTRACT | FULL TEXT  

Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa
Fingert et al.
Arch Ophthalmol 2008;126:1301-1307.
ABSTRACT | FULL TEXT  

Phenotypic Expression of a PRPF8 Gene Mutation in a Large African American Family
Walia et al.
Arch Ophthalmol 2008;126:1127-1132.
ABSTRACT | FULL TEXT  

Carrier of R14W in Carbonic Anhydrase IV Presents Bothnia Dystrophy Phenotype Caused by Two Allelic Mutations in RLBP1
Kohn et al.
IOVS 2008;49:3172-3177.
ABSTRACT | FULL TEXT  

Functional Stability of Retinal Ganglion Cells after Degeneration-Induced Changes in Synaptic Input
Margolis et al.
J. Neurosci. 2008;28:6526-6536.
ABSTRACT | FULL TEXT  

Retinal Laminar Architecture in Human Retinitis Pigmentosa Caused by Rhodopsin Gene Mutations
Aleman et al.
IOVS 2008;49:1580-1590.
ABSTRACT | FULL TEXT  

Genomics in the Era of Molecular Ophthalmology: Reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE)
Brooks et al.
Arch Ophthalmol 2008;126:424-425.
FULL TEXT  

Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex
Gonzalez-Santos et al.
Hum Mol Genet 2008;17:225-239.
ABSTRACT | FULL TEXT  

A Mutation in the Cone-Specific pde6 Gene Causes Rapid Cone Photoreceptor Degeneration in Zebrafish
Stearns et al.
J. Neurosci. 2007;27:13866-13874.
ABSTRACT | FULL TEXT  

Genetic Ophthalmology and the Era of Clinical Care
Sieving and Collins
JAMA 2007;297:733-736.
FULL TEXT