Ophthalmic genetics · 2026
Pediatric hereditary optic neuropathies in the United Arab Emirates.
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Khan Arif O
Аннотация
PURPOSE: To characterize outpatient pediatric hereditary optic neuropathies in the United Arab Emirates.
METHODS: Retrospective case series (2016-2023, inclusive).
RESULTS: Thirteen probands were identified (nine males). Thirty-eight percent (5/13) had extraocular symptoms at the time of presentation (e.g. hearing loss or developmental delay). For the remaining 62% (8/13) who reported only visual symptoms at presentation, half (4/8) were subsequently diagnosed with extraocular findings (e.g. hearing loss or neurological regression). The single most common genetic diagnosis was heterozygous OPA1 variant (31%, 4/13). The remaining 69% (9/13) harbored pathogenic variants in nine different genes that were monoallelic (ATP1A3, NR2F1, PTCH1) or biallelic (ACO2, BTD, GALC, OPA1, WFS1, POLR3B). For these nine cases, two had treatable metabolic disease that had not been previously recognized before the presentation for visual loss (BTD, GALC). No pathogenic variant was recurrent in the series.
DISCUSSION: Although private heterozygous OPA1 variant (dominant optic atrophy) was the single most frequent genotype in this cohort, non-OPA1-related cases were more common, genetically heterogenous, and often autosomal recessive. Children with hereditary optic neuropathy should be evaluated for actionable extraocular features such as hearing loss and undiagnosed metabolic disease as they are not infrequent and best addressed at an earlier age.
METHODS: Retrospective case series (2016-2023, inclusive).
RESULTS: Thirteen probands were identified (nine males). Thirty-eight percent (5/13) had extraocular symptoms at the time of presentation (e.g. hearing loss or developmental delay). For the remaining 62% (8/13) who reported only visual symptoms at presentation, half (4/8) were subsequently diagnosed with extraocular findings (e.g. hearing loss or neurological regression). The single most common genetic diagnosis was heterozygous OPA1 variant (31%, 4/13). The remaining 69% (9/13) harbored pathogenic variants in nine different genes that were monoallelic (ATP1A3, NR2F1, PTCH1) or biallelic (ACO2, BTD, GALC, OPA1, WFS1, POLR3B). For these nine cases, two had treatable metabolic disease that had not been previously recognized before the presentation for visual loss (BTD, GALC). No pathogenic variant was recurrent in the series.
DISCUSSION: Although private heterozygous OPA1 variant (dominant optic atrophy) was the single most frequent genotype in this cohort, non-OPA1-related cases were more common, genetically heterogenous, and often autosomal recessive. Children with hereditary optic neuropathy should be evaluated for actionable extraocular features such as hearing loss and undiagnosed metabolic disease as they are not infrequent and best addressed at an earlier age.