Classification of congenital and early onset retinitis pigmentosa

S. G. Foxman, J. R. Heckenlively, J. B. Bateman and J. D. Wirtschafter

We retrospectively studied 36 patients with congenital (Leber's amaurosis) and early onset retinitis pigmentosa (RP) to develop a new schematic classification system based on the age at onset of symptoms, severity of visual loss, and associated nonocular abnormalities. Our four groups were designated as complicated and uncomplicated Leber's congenital amaurosis and juvenile and early onset RP. Criteria for patient selection included an extinguished or barely recordable electroretinogram, well-documented age of onset, and comprehensive ocular and medical examinations before the age of 10 years. Among the congenitally blind, the distinguishing features were the degree of hyperopia and the presence or absence of neurologic abnormalities. Among patients with infantile or juvenile onset of retinal degeneration, the distinguishing features were the severity of visual loss and the age at onset of symptoms. The presence of nystagmus and hyperopia and the severity of central visual loss differentiated congenital from early onset RP.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray
Vallespin et al.
IOVS 2007;48:5653-5661.
ABSTRACT | FULL TEXT  

Novel TULP1 Mutation Causing Leber Congenital Amaurosis or Early Onset Retinal Degeneration
Mataftsi et al.
IOVS 2007;48:5160-5167.
ABSTRACT | FULL TEXT  

Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms
Ferreira
Hum Mol Genet 2005;14:R259-R267.
ABSTRACT | FULL TEXT  

Fundus Autofluorescence in Patients with Leber Congenital Amaurosis
Scholl et al.
IOVS 2004;45:2747-2752.
ABSTRACT | FULL TEXT  

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
Yzer et al.
J. Med. Genet. 2003;40:709-713.
FULL TEXT  

RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons
Castagnet et al.
Hum Mol Genet 2003;12:1847-1863.
ABSTRACT | FULL TEXT  

An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis
Heegaard et al.
Br. J. Ophthalmol. 2003;87:980-983.
ABSTRACT | FULL TEXT  

Delivery of Adeno-Associated Virus Vectors to the Fetal Retina: Impact of Viral Capsid Proteins on Retinal Neuronal Progenitor Transduction
Surace et al.
J. Virol. 2003;77:7957-7963.
ABSTRACT | FULL TEXT  

Molecular genetics of Leber congenital amaurosis
Cremers et al.
Hum Mol Genet 2002;11:1169-1176.
ABSTRACT | FULL TEXT  

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
van der Spuy et al.
Hum Mol Genet 2002;11:823-831.
ABSTRACT | FULL TEXT  

Complete Abolition of the Retinal-Specific Guanylyl Cyclase (retGC-1) Catalytic Ability Consistently Leads to Leber Congenital Amaurosis (LCA)
Rozet et al.
IOVS 2001;42:1190-1192.
ABSTRACT | FULL TEXT  

Implications of Genetic Analysis in Leber Congenital Amaurosis
Gamm and Thliveris
Arch Ophthalmol 2001;119:426-427.
FULL TEXT  

A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype
Silva et al.
IOVS 2000;41:2076-2079.
ABSTRACT | FULL TEXT  

A Novel Locus for Leber Congenital Amaurosis (LCA4) with Anterior Keratoconus Mapping to Chromosome 17p13
Hameed et al.
IOVS 2000;41:629-633.
ABSTRACT | FULL TEXT  

A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan
EL-SHANTI et al.
J. Med. Genet. 1999;36:862-865.
FULL TEXT  

Tubby-like Protein 1 Homozygous Splice-Site Mutation Causes Early-Onset Severe Retinal Degeneration
Lewis et al.
IOVS 1999;40:2106-2114.
ABSTRACT | FULL TEXT  

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
Van Hooser et al.
Proc. Natl. Acad. Sci. USA 2000;97:8623-8628.
ABSTRACT | FULL TEXT