Ophthalmic genetics · 2023
Mutations in AGBL5 associated with Retinitis pigmentosa.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Paredes Diego I, Bello Nicholas R, Capasso Jenina E, Procopio Rebecca, Levin Alex V
Аннотация
BACKGROUND: Retinitis pigmentosa (RP) is the leading cause of heritable retinal visual impairment. Clinically, it is characterized by a variable onset of progressive night blindness and visual field constriction. RP is characterized by wide genetic heterogeneity with a broad range of potential genes involved in the genesis of this disease. Very few cases have been reported of RP due to pathogenic variants in AGBL5.
MATERIALS AND METHODS: We report two patients with RP and bilallelic pathogenic variants in AGBL5.
RESULTS: Genetic sequencing showed one homozygous AGBL5 missense variant in one patient and a homozygous nonsense variant in the other. These patients presented with progressive peripheral vision loss and nyctalopia. Their RP phenotypes were similar to previous reports in literature.
CONCLUSION: These two cases provide further evidence regarding the relationship of pathogenic variants in AGBL5 as a cause of autosomal recessive RP.
MATERIALS AND METHODS: We report two patients with RP and bilallelic pathogenic variants in AGBL5.
RESULTS: Genetic sequencing showed one homozygous AGBL5 missense variant in one patient and a homozygous nonsense variant in the other. These patients presented with progressive peripheral vision loss and nyctalopia. Their RP phenotypes were similar to previous reports in literature.
CONCLUSION: These two cases provide further evidence regarding the relationship of pathogenic variants in AGBL5 as a cause of autosomal recessive RP.