Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
OBJECTIVE
To correlate visual acuity of patients with Leber's congenital amaurosis (LCA) and early childhood-onset retinitis pigmentosa (RP) with mutations in underlying LCA genes.


METHODS
Multicentered retrospective observational study.


METHODS
After exclusion of 28 subjects, 169 patients with the diagnosis of LCA and 27 patients with early childhood-onset RP were included in the study because the underlying mutations in AIPL1, GUCY2D, RDH12, RPE65, CRX, CRB1, RPGRIP1, CEP290, LCA5, and TULP1 genes could be identified in this cohort of patients.


METHODS
We collected data on best-corrected visual acuity as recorded at the time of the patient's most recent visit to one of the participating ophthalmology departments. The median and range of visual acuities for each genetic subtype were calculated separately for the LCA and early childhood-onset RP groups.


METHODS
The range and median best-corrected visual acuities for each genetic subtype and age-related mean visual acuities for each genetic subtype.


RESULTS
A wide variation in visual acuity was observed in patients with LCA and RPE65, RDH12, and CRB1 mutations, whereas AIPL1, GUCY2D, CRX, and RPGRIP1 gene mutations were associated with severely decreased visual acuities beginning within the first year of life. It was also noted that patients with either an RPE65 or CRB1 mutation have progressive visual loss with advancing age. Onset of visual symptoms after infancy was associated with a relatively better visual prognosis.


CONCLUSIONS
The data obtained from this study will help clinicians provide counseling on visual prognosis to patients with known mutations in LCA genes and be of value in future studies aimed at the treatment of LCA and early childhood-onset RP.
Walia
Saloni
S
Department of Ophthalmology, University of Illinois at Chicago, Chicago, Illinois, USA.
Fishman
Gerald A
GA
Jacobson
Samuel G
SG
Aleman
Tomas S
TS
Koenekoop
Robert K
RK
Traboulsi
Elias I
EI
Weleber
Richard G
RG
Pennesi
Mark E
ME
Heon
Elise
E
Drack
Arlene
A
Lam
Byron L
BL
Allikmets
Rando
R
Stone
Edwin M
EM
D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000429:Alcohol Oxidoreductases / Q000235:genetics; D000951:Antigens, Neoplasm / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005838:Genotype; D006162:Guanylate Cyclase / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D057130:Leber Congenital Amaurosis / Q000235:genetics / Q000503:physiopathology*; D055537:Light Signal Transduction / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008869:Microtubule-Associated Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D011506:Proteins / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000503:physiopathology*; D012189:Retrospective Studies; D015534:Trans-Activators / Q000235:genetics; D014792:Visual Acuity / Q000502:physiology*; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
D048868:Adaptor Proteins, Signal Transducing; D000429:Alcohol Oxidoreductases; D000951:Antigens, Neoplasm; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006162:Guanylate Cyclase; D018398:Homeodomain Proteins; D008565:Membrane Proteins; D008869:Microtubule-Associated Proteins; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; D011506:Proteins; D011956:Receptors, Cell Surface; D015534:Trans-Activators; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase; C403625:AIPL1 protein, human; C448939:CRB1 protein, human; C493903:Cep290 protein, human; C522405:LCA5 protein, human; C415903:RPGRIP1 protein, human; C105443:TULP1 protein, human; C109288:cone rod homeobox protein; C110715:guanylate cyclase 1; C489649:RDH12 protein, human