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Inventi Impact: Ophthalmology

Articles

  • Inventi:hotm/26526/18
    A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness
    01-Jan-1970 Research 2018 : October - December
    Christina Zeitz, Cecile Mejecase, Mathilde Stevenard, Christelle Michiels, Isabelle Audo, Michael F Marmor

    Autosomal dominant congenital stationary night blindness (adCSNB) is rare and results from altered phototransduction giving a\nRiggs type of electroretinogram (ERG) with loss of the rod a-wave and small b-waves. These patients usually have normal vision\nin light. Only few mutations in genes coding for proteins of the phototransduction cascade lead to this condition; most of these\ngene defects cause progressive rod-cone dystrophy. Mutation analysis of an adCSNB family with a Riggs-type ERG revealed a\nnovel variant (c.155T>A p.Ile52Asn) in GNAT1 coding for the

    How to Cite this Article
    Christina Zeitz, Cecile Mejecase, Mathilde Stevenard, Christelle Michiels, Isabelle Audo, and Michael F.\nMarmor, â??A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary\nNight Blindness,â? BioMed Research International, vol. 2018, Article ID 7694801, 10 pages, 2018. https://\ndoi.org/10.1155/2018/7694801, https://creativecommons.org/licenses/by/4.0/.
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