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Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Ophthalmology 2010; 117(6):1190-8O

Abstract

PURPOSE

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.

DESIGN

Multicentered retrospective observational study.

PARTICIPANTS

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.

MAIN OUTCOME MEASURES

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.

Authors+Show Affiliations

Department of Ophthalmology, University of Illinois at Chicago, Chicago, Illinois, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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
Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20079931

Citation

Walia, Saloni, et al. "Visual Acuity in Patients With Leber's Congenital Amaurosis and Early Childhood-onset Retinitis Pigmentosa." Ophthalmology, vol. 117, no. 6, 2010, pp. 1190-8.
Walia S, Fishman GA, Jacobson SG, et al. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology. 2010;117(6):1190-8.
Walia, S., Fishman, G. A., Jacobson, S. G., Aleman, T. S., Koenekoop, R. K., Traboulsi, E. I., ... Stone, E. M. (2010). Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology, 117(6), pp. 1190-8. doi:10.1016/j.ophtha.2009.09.056.
Walia S, et al. Visual Acuity in Patients With Leber's Congenital Amaurosis and Early Childhood-onset Retinitis Pigmentosa. Ophthalmology. 2010;117(6):1190-8. PubMed PMID: 20079931.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. AU - Walia,Saloni, AU - Fishman,Gerald A, AU - Jacobson,Samuel G, AU - Aleman,Tomas S, AU - Koenekoop,Robert K, AU - Traboulsi,Elias I, AU - Weleber,Richard G, AU - Pennesi,Mark E, AU - Heon,Elise, AU - Drack,Arlene, AU - Lam,Byron L, AU - Allikmets,Rando, AU - Stone,Edwin M, Y1 - 2010/01/15/ PY - 2009/05/14/received PY - 2009/09/25/revised PY - 2009/09/28/accepted PY - 2010/1/19/entrez PY - 2010/1/19/pubmed PY - 2010/6/24/medline SP - 1190 EP - 8 JF - Ophthalmology JO - Ophthalmology VL - 117 IS - 6 N2 - PURPOSE: 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. DESIGN: Multicentered retrospective observational study. PARTICIPANTS: 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. MAIN OUTCOME MEASURES: 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. SN - 1549-4713 UR - https://www.unboundmedicine.com/medline/citation/20079931/Visual_acuity_in_patients_with_Leber's_congenital_amaurosis_and_early_childhood_onset_retinitis_pigmentosa_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0161-6420(09)01169-5 DB - PRIME DP - Unbound Medicine ER -