TY - JOUR
T1 - Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies
AU - Ben-Avi, Ravid
AU - Rivera, Antonio
AU - Hendler, Karen
AU - Sharon, Dror
AU - Banin, Eyal
AU - Khateb, Samer
AU - Yahalom, Claudia
N1 - Publisher Copyright:
© The Author(s) 2022.
PY - 2023/3
Y1 - 2023/3
N2 - Purpose: To assess the prevalence of Cystoid macular edema (CME) in children with early onset retinal dystrophies (EORD) and to evaluate if there are associated factors and/or response to early treatment. Methods: Consecutive, retrospective case series. Medical records of patients, 18 years or younger, diagnosed with EORD were included in the study. Optic coherence tomography (OCT) scans, clinical and genetic characteristics as well as other associated factors were analyzed. Main outcome was the presence of CME on OCT scans. Results: One hundred and two children with EORD (aged 1–18 years, mean 9.7 ± 4.2) were recruited. OCT was performed in 60/102 and among them, 19/60 had CME (31.7%). The disease-causing gene was identified in 13 children with CME; autosomal-recessive inheritance was found in 88.3% of those with an identified genotype. Children with Usher syndrome had CME in 44.4% of the cases. Early treatment of CME resulted in variable response. Conclusions: Our results show that 31.7% of children with EORD who underwent OCT have macular edema. CME prevalence was found to be relatively higher in children with Usher syndrome. Autosomal recessive was the most prevalent inheritance identified in the EORD group as well as in the CME group. Additional prospective research is needed to assess the efficacy of early CME treatment in pediatric EORD patients.
AB - Purpose: To assess the prevalence of Cystoid macular edema (CME) in children with early onset retinal dystrophies (EORD) and to evaluate if there are associated factors and/or response to early treatment. Methods: Consecutive, retrospective case series. Medical records of patients, 18 years or younger, diagnosed with EORD were included in the study. Optic coherence tomography (OCT) scans, clinical and genetic characteristics as well as other associated factors were analyzed. Main outcome was the presence of CME on OCT scans. Results: One hundred and two children with EORD (aged 1–18 years, mean 9.7 ± 4.2) were recruited. OCT was performed in 60/102 and among them, 19/60 had CME (31.7%). The disease-causing gene was identified in 13 children with CME; autosomal-recessive inheritance was found in 88.3% of those with an identified genotype. Children with Usher syndrome had CME in 44.4% of the cases. Early treatment of CME resulted in variable response. Conclusions: Our results show that 31.7% of children with EORD who underwent OCT have macular edema. CME prevalence was found to be relatively higher in children with Usher syndrome. Autosomal recessive was the most prevalent inheritance identified in the EORD group as well as in the CME group. Additional prospective research is needed to assess the efficacy of early CME treatment in pediatric EORD patients.
KW - CME
KW - early retinal dystrophies
KW - early retinitis pigmentosa
KW - macular edema
UR - http://www.scopus.com/inward/record.url?scp=85141395039&partnerID=8YFLogxK
U2 - 10.1177/11206721221136318
DO - 10.1177/11206721221136318
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C2 - 36317312
AN - SCOPUS:85141395039
SN - 1120-6721
VL - 33
SP - 1109
EP - 1115
JO - European Journal of Ophthalmology
JF - European Journal of Ophthalmology
IS - 2
ER -