Prospective evaluation of patients with X-linked retinoschisis during 18 months

XLRS-001 Study Group

Research output: Contribution to journalArticle

Abstract

PURPOSE. Prospective evaluation of patients with X-linked retinoschisis (XLRS). METHODS. Fifty-six males XLRS patients, age ≥7 years, had retinal structure and function tests performed every 6 months during an 18-month period. RESULTS. Best corrected visual acuity (BCVA) was abnormal (mean ± SD logMAR 0.57 ± 0.32 OD and 0.50 ± 0.27 OS), with weak correlation between visual acuity and age (R = 0.24, P = 0.0095). Mean cyst cavity volume (CCV) determined on optical coherence tomography showed weak correlation with age (R = 0.33, P = 0.0009) and no correlation with visual acuity. Subjects had modest reduction in mean kinetic and static perimetry results, reduced b-wave amplitude on electroretinography, abnormal reading speed results, and decreased visual function quality of life scores. Contrast sensitivity results were normal in 85 of 99 eyes tested. Most subjects had no meaningful change in BCVA during follow-up. Subjects who started carbonic anhydrase inhibitor (CAI) treatment at enrollment had improved BCVA (mean ± SD change 3.15 ± 7.8 ETDRS letters, with increase of ≥15 ETDRS letters at 8 of 110 visits [in 3 subjects]). There were no significant changes in other parameters tested. CONCLUSIONS. Structural and functional results were stable during the 18-month follow-up period. Some patients starting CAI treatment at the baseline visit showed improvement in BCVA that was not correlated with changes in CCV. Natural history data such as these will be important for comparisons to the changes in measures of retinal structure and function following gene replacement therapy in patients with XLRS.

Original languageEnglish (US)
Pages (from-to)5941-5956
Number of pages16
JournalInvestigative Ophthalmology and Visual Science
Volume59
Issue number15
DOIs
StatePublished - Dec 1 2018

Fingerprint

Retinoschisis
Visual Acuity
Carbonic Anhydrase Inhibitors
Cysts
Electroretinography
Visual Field Tests
Contrast Sensitivity
Optical Coherence Tomography
Natural History
Genetic Therapy
Reading
Quality of Life
Therapeutics

Keywords

  • Cyst cavity volume
  • Retinoschisis
  • XLRS

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

Prospective evaluation of patients with X-linked retinoschisis during 18 months. / XLRS-001 Study Group.

In: Investigative Ophthalmology and Visual Science, Vol. 59, No. 15, 01.12.2018, p. 5941-5956.

Research output: Contribution to journalArticle

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abstract = "PURPOSE. Prospective evaluation of patients with X-linked retinoschisis (XLRS). METHODS. Fifty-six males XLRS patients, age ≥7 years, had retinal structure and function tests performed every 6 months during an 18-month period. RESULTS. Best corrected visual acuity (BCVA) was abnormal (mean ± SD logMAR 0.57 ± 0.32 OD and 0.50 ± 0.27 OS), with weak correlation between visual acuity and age (R = 0.24, P = 0.0095). Mean cyst cavity volume (CCV) determined on optical coherence tomography showed weak correlation with age (R = 0.33, P = 0.0009) and no correlation with visual acuity. Subjects had modest reduction in mean kinetic and static perimetry results, reduced b-wave amplitude on electroretinography, abnormal reading speed results, and decreased visual function quality of life scores. Contrast sensitivity results were normal in 85 of 99 eyes tested. Most subjects had no meaningful change in BCVA during follow-up. Subjects who started carbonic anhydrase inhibitor (CAI) treatment at enrollment had improved BCVA (mean ± SD change 3.15 ± 7.8 ETDRS letters, with increase of ≥15 ETDRS letters at 8 of 110 visits [in 3 subjects]). There were no significant changes in other parameters tested. CONCLUSIONS. Structural and functional results were stable during the 18-month follow-up period. Some patients starting CAI treatment at the baseline visit showed improvement in BCVA that was not correlated with changes in CCV. Natural history data such as these will be important for comparisons to the changes in measures of retinal structure and function following gene replacement therapy in patients with XLRS.",
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author = "{XLRS-001 Study Group} and Mark Pennesi and Birch, {David G.} and Jayasundera, {K. Thiran} and Maria Parker and Ou Tan and Rabia Gurses-Ozden and Carrie Reichley and Beasley, {Kathleen N.} and Paul Yang and Richard Weleber and Bennett, {Lea D.} and Heckenlively, {John R.} and Kalyani Kothapalli and Chulay, {Jeffrey D.}",
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T1 - Prospective evaluation of patients with X-linked retinoschisis during 18 months

AU - XLRS-001 Study Group

AU - Pennesi, Mark

AU - Birch, David G.

AU - Jayasundera, K. Thiran

AU - Parker, Maria

AU - Tan, Ou

AU - Gurses-Ozden, Rabia

AU - Reichley, Carrie

AU - Beasley, Kathleen N.

AU - Yang, Paul

AU - Weleber, Richard

AU - Bennett, Lea D.

AU - Heckenlively, John R.

AU - Kothapalli, Kalyani

AU - Chulay, Jeffrey D.

PY - 2018/12/1

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N2 - PURPOSE. Prospective evaluation of patients with X-linked retinoschisis (XLRS). METHODS. Fifty-six males XLRS patients, age ≥7 years, had retinal structure and function tests performed every 6 months during an 18-month period. RESULTS. Best corrected visual acuity (BCVA) was abnormal (mean ± SD logMAR 0.57 ± 0.32 OD and 0.50 ± 0.27 OS), with weak correlation between visual acuity and age (R = 0.24, P = 0.0095). Mean cyst cavity volume (CCV) determined on optical coherence tomography showed weak correlation with age (R = 0.33, P = 0.0009) and no correlation with visual acuity. Subjects had modest reduction in mean kinetic and static perimetry results, reduced b-wave amplitude on electroretinography, abnormal reading speed results, and decreased visual function quality of life scores. Contrast sensitivity results were normal in 85 of 99 eyes tested. Most subjects had no meaningful change in BCVA during follow-up. Subjects who started carbonic anhydrase inhibitor (CAI) treatment at enrollment had improved BCVA (mean ± SD change 3.15 ± 7.8 ETDRS letters, with increase of ≥15 ETDRS letters at 8 of 110 visits [in 3 subjects]). There were no significant changes in other parameters tested. CONCLUSIONS. Structural and functional results were stable during the 18-month follow-up period. Some patients starting CAI treatment at the baseline visit showed improvement in BCVA that was not correlated with changes in CCV. Natural history data such as these will be important for comparisons to the changes in measures of retinal structure and function following gene replacement therapy in patients with XLRS.

AB - PURPOSE. Prospective evaluation of patients with X-linked retinoschisis (XLRS). METHODS. Fifty-six males XLRS patients, age ≥7 years, had retinal structure and function tests performed every 6 months during an 18-month period. RESULTS. Best corrected visual acuity (BCVA) was abnormal (mean ± SD logMAR 0.57 ± 0.32 OD and 0.50 ± 0.27 OS), with weak correlation between visual acuity and age (R = 0.24, P = 0.0095). Mean cyst cavity volume (CCV) determined on optical coherence tomography showed weak correlation with age (R = 0.33, P = 0.0009) and no correlation with visual acuity. Subjects had modest reduction in mean kinetic and static perimetry results, reduced b-wave amplitude on electroretinography, abnormal reading speed results, and decreased visual function quality of life scores. Contrast sensitivity results were normal in 85 of 99 eyes tested. Most subjects had no meaningful change in BCVA during follow-up. Subjects who started carbonic anhydrase inhibitor (CAI) treatment at enrollment had improved BCVA (mean ± SD change 3.15 ± 7.8 ETDRS letters, with increase of ≥15 ETDRS letters at 8 of 110 visits [in 3 subjects]). There were no significant changes in other parameters tested. CONCLUSIONS. Structural and functional results were stable during the 18-month follow-up period. Some patients starting CAI treatment at the baseline visit showed improvement in BCVA that was not correlated with changes in CCV. Natural history data such as these will be important for comparisons to the changes in measures of retinal structure and function following gene replacement therapy in patients with XLRS.

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KW - Retinoschisis

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