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

Saloni Walia, Gerald A. Fishman, Samuel G. Jacobson, Tomas S. Aleman, Robert K. Koenekoop, Elias I. Traboulsi, Richard Weleber, Mark Pennesi, Elise Heon, Arlene Drack, Byron L. Lam, Rando Allikmets, Edwin M. Stone

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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. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Original languageEnglish (US)
Pages (from-to)1190-1198
Number of pages9
JournalOphthalmology
Volume117
Issue number6
DOIs
StatePublished - Jun 2010

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Leber Congenital Amaurosis
Retinitis Pigmentosa
Visual Acuity
Mutation
Genes
Disclosure
Ophthalmology
Observational Studies
Counseling
Retrospective Studies
Outcome Assessment (Health Care)

ASJC Scopus subject areas

  • Ophthalmology

Cite this

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), 1190-1198. https://doi.org/10.1016/j.ophtha.2009.09.056

Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa. / Walia, Saloni; Fishman, Gerald A.; Jacobson, Samuel G.; Aleman, Tomas S.; Koenekoop, Robert K.; Traboulsi, Elias I.; Weleber, Richard; Pennesi, Mark; Heon, Elise; Drack, Arlene; Lam, Byron L.; Allikmets, Rando; Stone, Edwin M.

In: Ophthalmology, Vol. 117, No. 6, 06.2010, p. 1190-1198.

Research output: Contribution to journalArticle

Walia, S, Fishman, GA, Jacobson, SG, Aleman, TS, Koenekoop, RK, Traboulsi, EI, Weleber, R, Pennesi, M, Heon, E, Drack, A, Lam, BL, Allikmets, R & Stone, EM 2010, 'Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa', Ophthalmology, vol. 117, no. 6, pp. 1190-1198. https://doi.org/10.1016/j.ophtha.2009.09.056
Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI et al. Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa. Ophthalmology. 2010 Jun;117(6):1190-1198. https://doi.org/10.1016/j.ophtha.2009.09.056
Walia, Saloni ; Fishman, Gerald A. ; Jacobson, Samuel G. ; Aleman, Tomas S. ; Koenekoop, Robert K. ; Traboulsi, Elias I. ; Weleber, Richard ; Pennesi, Mark ; Heon, Elise ; Drack, Arlene ; Lam, Byron L. ; Allikmets, Rando ; Stone, Edwin M. / Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa. In: Ophthalmology. 2010 ; Vol. 117, No. 6. pp. 1190-1198.
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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. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.",
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AU - Jacobson, Samuel G.

AU - Aleman, Tomas S.

AU - Koenekoop, Robert K.

AU - Traboulsi, Elias I.

AU - Weleber, Richard

AU - Pennesi, Mark

AU - Heon, Elise

AU - Drack, Arlene

AU - Lam, Byron L.

AU - Allikmets, Rando

AU - Stone, Edwin M.

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