Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa

• Published in: Ophthalmology (Rochester, Minn.) Vol. 117; no. 6; pp. 1190 - 1198
• Main Authors: Walia, Saloni, Fishman, Gerald A., Jacobson, Samuel G., Aleman, Tomas S., Koenekoop, Robert K., Traboulsi, Elias I., Weleber, Richard G., Pennesi, Mark E., Heon, Elise, Drack, Arlene, Lam, Byron L., Allikmets, Rando, Stone, Edwin M.
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.06.2010; Elsevier
• Subjects: Adaptor Proteins, Signal Transducing; Adolescent; Adult; Age of Onset; Aged; Aged, 80 and over; Alcohol Oxidoreductases - genetics; Antigens, Neoplasm - genetics; Biological and medical sciences; Carrier Proteins - genetics; Cell Cycle Proteins; Child; Child, Preschool; cis-trans-Isomerases; Cytoskeletal Proteins; Eye Proteins - genetics; Female; Genotype; Guanylate Cyclase - genetics; Homeodomain Proteins - genetics; Humans; Infant; Leber Congenital Amaurosis - genetics; Leber Congenital Amaurosis - physiopathology; Light Signal Transduction - genetics; Male; Medical sciences; Membrane Proteins - genetics; Microtubule-Associated Proteins - genetics; Middle Aged; Miscellaneous; Mutation; Neoplasm Proteins - genetics; Nerve Tissue Proteins - genetics; Ophthalmology; Proteins - genetics; Receptors, Cell Surface - genetics; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - physiopathology; Retinopathies; Retrospective Studies; Trans-Activators - genetics; Visual Acuity - physiology; Human; Eye disease; Leber amaurosis; Retinopathy; Congenital; Retinitis pigmentosa; Visual acuity; Early; Ophthalmology; Child; Genetic disease
• ISSN: 0161-6420; 1549-4713; 1549-4713
• DOI: 10.1016/j.ophtha.2009.09.056

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. Multicentered retrospective observational study. 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. 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. The range and median best-corrected visual acuities for each genetic subtype and age-related mean visual acuities for each genetic subtype. 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. 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. The author(s) have no proprietary or commercial interest in any materials discussed in this article.