Visual Function and Central Retinal Structure in Choroideremia
| Autor: | Shiyi Chen, Talal Alabduljalil, Shuning Li, Samuel G. Jacobson, Elise Héon, David B. McGuigan, Artur V. Cideciyan |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Refractive error Visual acuity Adolescent Genotype Fundus Oculi Visual Acuity Retina Choroideremia Young Adult 03 medical and health sciences Age Distribution 0302 clinical medicine Ophthalmology Humans Medicine Fluorescein Angiography Young adult Child Aged Retrospective Studies Color Vision medicine.diagnostic_test business.industry Age Factors Retrospective cohort study Middle Aged medicine.disease Fluorescein angiography Visual field 030104 developmental biology Child Preschool Cohort 030221 ophthalmology & optometry Visual Field Tests Female Visual Fields medicine.symptom business Tomography Optical Coherence Follow-Up Studies Forecasting |
| Zdroj: | Investigative Opthalmology & Visual Science. 57:OCT377 |
| ISSN: | 1552-5783 |
| DOI: | 10.1167/iovs.15-18421 |
| Popis: | PURPOSE To define the clinical phenotype of a cohort of patients affected with choroideremia. METHODS A retrospective study of patients with choroideremia included two centers. Data collected included age, visual acuity, refractive error, color vision, kinetic perimetry, optical coherence tomography (OCT), and genotype information. RESULTS Sixty male participants were recruited. Genotype information was available for 58 cases, and nonsense mutations were most commonly observed. Eight novel mutations were identified including a missense mutation. The mean age at the first visit was 30.1 years (range, 5-65 years) and thirty-seven patients (61%) had more than one visit with a mean follow-up period of 10.3 years (range, 1-23 years). Visual acuity was not associated with age for patients younger than 30 years (P = 0.46) but significantly associated with age for the age group above 30 years (P < 0.0001). Central retinal thickness was significantly associated with visual acuity (P = 0.03) and with age (P = 0.0014). The extent of visual field documented by kinetic perimetry showed a negative correlation with age to tested stimuli; the smallest target used (I-4e) showed the earliest and most rapid deterioration below the age of 20 years (P = 0.0032). Color vision was abnormal in 46.7% of cases (mean age, 36.3 years; range, 18-61 years), which was associated with older age (P = 0.0039). Central OCT images were abnormal in all cases, as early as age 10 years. Outer retinal tubulations were observed in all but five patients. No genotype-phenotype correlation was observed. CONCLUSIONS This comprehensive structural and functional characterization of a large cohort of patients with molecularly confirmed choroideremia indicates that certain parameters are not changing significantly with time while others are. The latter warrants a prospective natural history study, ultimately to be considered as outcome measures for interventional clinical trials. |
| Databáze: | OpenAIRE |
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