TY - JOUR
T1 - LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION
AU - van Schuppen, Sanne M.
AU - Talib, Mays
AU - Bergen, Arthur A.
AU - ten Brink, Jacoline B.
AU - Florijn, Ralph J.
AU - Boon, Camiel J. F.
AU - van Schooneveld, Mary J.
PY - 2018
Y1 - 2018
N2 - To evaluate the long-term clinical course and visual outcome of patients with choroideremia. Clinical examination, a social questionnaire, and medical records review of 21 patients with choroideremia from 14 families. The mean follow-up time was 25.2 years (SD: 13.3; range 2-57 years). The mean age at symptom onset was 15.1 years (SD: 10.1; range 5-40 years). Best-corrected visual acuity was stable until the age of 35 (P = 0.96), but declined significantly faster after the age of 35 (11%/year, P = 0.001), with a high variability between individual patients. The mean age at which patients discontinued working was 48.1 years (SD: 11.7, range 25-65 years). The reason for work discontinuation was vision related in 60% of cases. Most patients (70%) reported visual field constriction as the most debilitating symptom. The authors report scleral pits and tunnels as a novel finding visible on spectral domain optical coherence tomography and ophthalmoscopy. Choroideremia is a severely debilitating disease showing a rapid decline of visual acuity generally after the age of 35, but a more gradual decline for other abnormalities
AB - To evaluate the long-term clinical course and visual outcome of patients with choroideremia. Clinical examination, a social questionnaire, and medical records review of 21 patients with choroideremia from 14 families. The mean follow-up time was 25.2 years (SD: 13.3; range 2-57 years). The mean age at symptom onset was 15.1 years (SD: 10.1; range 5-40 years). Best-corrected visual acuity was stable until the age of 35 (P = 0.96), but declined significantly faster after the age of 35 (11%/year, P = 0.001), with a high variability between individual patients. The mean age at which patients discontinued working was 48.1 years (SD: 11.7, range 25-65 years). The reason for work discontinuation was vision related in 60% of cases. Most patients (70%) reported visual field constriction as the most debilitating symptom. The authors report scleral pits and tunnels as a novel finding visible on spectral domain optical coherence tomography and ophthalmoscopy. Choroideremia is a severely debilitating disease showing a rapid decline of visual acuity generally after the age of 35, but a more gradual decline for other abnormalities
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85031432978&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/28937528
U2 - https://doi.org/10.1097/IAE.0000000000001844
DO - https://doi.org/10.1097/IAE.0000000000001844
M3 - Article
C2 - 28937528
SN - 0275-004X
VL - 38
SP - 1713
EP - 1724
JO - Retina (Philadelphia, Pa.)
JF - Retina (Philadelphia, Pa.)
IS - 9
ER -