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Gene Therapy for Achromatopsia.

• Authors : Baxter, Megan F.^1,2 (AUTHOR) ; Borchert, Grace A.^2,3,4 (AUTHOR)

Subjects: *COLOR vision; *COLOR blindness; *GENE therapy

• Source: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9739. 13p.

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Genetic tool used to diagnose achromatopsia: first case report from India.

• Authors : Pritti, Kumari¹ (AUTHOR) ; Mishra, Vineet¹ (AUTHOR); Kotecha, Udhaya² (AUTHOR)

Subjects: *COLOR blindness; *COLOR vision; *GENETIC variationINDIA

• Source: Egyptian Journal of Medical Human Genetics. 6/30/2023, Vol. 24 Issue 1, p1-4. 4p.

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Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia.

• Authors : Madeira, Carolina¹ (AUTHOR); Godinho, Gonçalo¹ (AUTHOR); Grangeia, Ana² (AUTHOR)

• Source: Case Reports in Ophthalmology. 2021, Vol. 12 Issue 3, p749-760. 12p.

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The Achromatic ‘Philosophical Zombie', a Syndrome of Cerebral Achromatopsia with Color Anopsognosia

• Authors : Antonio Carota; Pasquale Calabrese

Subjects: Achromatopsia; Color agnosia; Blindsight

• Source: Case Reports in Neurology, Vol 5, Iss 1, Pp 98-103 (2013)

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CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.

• Authors : Kohl, Susanne¹ ; Varsanyi, Balazs^1,2; Antunes, Gesine Abadin¹

• Source: European Journal of Human Genetics. Mar2005, Vol. 13 Issue 3, p302-308. 7p.

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Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3 -Associated Autosomal Recessive Achromatopsia.

• Authors : Kohl, Susanne¹ (AUTHOR) ; Baumann, Britta¹ (AUTHOR) ; Dassie, Francesca² (AUTHOR)

Subjects: *VISION disorders; *CHROMOSOMES; *GENETIC variation

• Source: International Journal of Molecular Sciences. Aug2021, Vol. 22 Issue 15, p7842-7842. 1p.

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Akromatopsili İki Olgunun İrdelenmesi.

• Authors : Zengın, Mehmet Özgür¹ ; Doğan, Beysim² ; Zengın, Neslihan³

• Source: Retina-Vitreus/Journal of Retina-Vitreous. Mar2012, Vol. 20 Issue 1, p63-65. 3p.

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Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

• Authors : Ouechtati, Farah¹; Merdassi, Ahlem²; Bouyacoub, Yosra¹

• Source: Journal of Human Genetics. Jan2011, Vol. 56 Issue 1, p22-28. 7p.

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ACHROMATOPSIA.

• Authors : Passarelli, Lori

Subjects: COLOR vision; PERIPHERAL vision; CONTRAST sensitivity (Vision)

• Source: 20/20. Feb2022, Vol. 49 Issue 2, p60-63. 4p.

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Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies

• Authors : Manca Tekavčič Pompe; Nika Vrabič; Marija Volk

Subjects: CNGA3; CNGB3; achromatopsiaagris

• Source: Current Issues in Molecular Biology; Volume 43; Issue 2; Pages: 941-957

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