Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype
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Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype. / Pauleikhoff, L; Weisschuh, N; Lentzsch, A; Spital, G; Krohne, T U; Agostini, H; Lange, C A K.
In: EUR J OPHTHALMOL, Vol. 34, No. 1, 01.2024, p. 79-88.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype
AU - Pauleikhoff, L
AU - Weisschuh, N
AU - Lentzsch, A
AU - Spital, G
AU - Krohne, T U
AU - Agostini, H
AU - Lange, C A K
PY - 2024/1
Y1 - 2024/1
N2 - INTRODUCTION: Gyrate atrophy (GA) is a rare retinal dystrophy due to biallelic pathogenic variants in the ornithine aminotransferase (OAT) gene, causing a 10-fold increase in plasma ornithine levels. It is characterized by circular patches of chorioretinal atrophy. However, a GA-like retinal phenotype (GALRP) without elevated ornithine levels has also been reported. The aim of this study is to compare the clinical characteristics of GA and GALRP and to identify possible discriminators.METHODS: A multicenter, retrospective chart review was performed at three German referral centres on patient records between 01/01/2009 and 31/12/2021. Records were screened for patients affected by GA or GALRP. Only patients with examination results for plasma ornithine levels and / or genetic testing of the OAT gene were included. Further clinical data was gathered where available.RESULTS: Ten patients (5 female) were included in the analysis. Three suffered from GA, while seven had a GALRP. Mean age (± SD) at onset of symptoms was 12.3 (± 3.5) years for GA compared with 46.7 (± 14.0) years for GALRP patients (p = 0.002). Mean degree of myopia was higher in GA (-8.0 dpt. ± 3.6) compared to GALRP patients (-3.8 dpt. ± 4.8, p = 0.04). Interestingly, all GA patients showed macular oedema, while only one GALRP patient did. Only one patient with GALRP had a positive family history, while two were immunosuppressed.DISCUSSION: Age of onset, refraction and presence of macular cystoid cavities appear to be discriminators between GA and GALRP. GALRP may encompass both genetic and non-genetic subtypes.
AB - INTRODUCTION: Gyrate atrophy (GA) is a rare retinal dystrophy due to biallelic pathogenic variants in the ornithine aminotransferase (OAT) gene, causing a 10-fold increase in plasma ornithine levels. It is characterized by circular patches of chorioretinal atrophy. However, a GA-like retinal phenotype (GALRP) without elevated ornithine levels has also been reported. The aim of this study is to compare the clinical characteristics of GA and GALRP and to identify possible discriminators.METHODS: A multicenter, retrospective chart review was performed at three German referral centres on patient records between 01/01/2009 and 31/12/2021. Records were screened for patients affected by GA or GALRP. Only patients with examination results for plasma ornithine levels and / or genetic testing of the OAT gene were included. Further clinical data was gathered where available.RESULTS: Ten patients (5 female) were included in the analysis. Three suffered from GA, while seven had a GALRP. Mean age (± SD) at onset of symptoms was 12.3 (± 3.5) years for GA compared with 46.7 (± 14.0) years for GALRP patients (p = 0.002). Mean degree of myopia was higher in GA (-8.0 dpt. ± 3.6) compared to GALRP patients (-3.8 dpt. ± 4.8, p = 0.04). Interestingly, all GA patients showed macular oedema, while only one GALRP patient did. Only one patient with GALRP had a positive family history, while two were immunosuppressed.DISCUSSION: Age of onset, refraction and presence of macular cystoid cavities appear to be discriminators between GA and GALRP. GALRP may encompass both genetic and non-genetic subtypes.
KW - Humans
KW - Female
KW - Child
KW - Adolescent
KW - Gyrate Atrophy/diagnosis
KW - Retrospective Studies
KW - Retina/pathology
KW - Phenotype
KW - Ornithine
KW - Atrophy/pathology
U2 - 10.1177/11206721231178147
DO - 10.1177/11206721231178147
M3 - SCORING: Journal article
C2 - 37218157
VL - 34
SP - 79
EP - 88
JO - EUR J OPHTHALMOL
JF - EUR J OPHTHALMOL
SN - 1120-6721
IS - 1
ER -