The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

PURPOSE. The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussation defect, and Anterior segment abnormalities (FHONDA syndrome), to describe the phenotypic spectrum, and to compare it to albinism. SUBJECTS AND METHODS. We retrospectivel...

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Main Authors:	Arveiler, B. (Author), Bagdonaite-Bejaran, L. (Author), Bergen, A.A (Author), Birk, O.S (Author), Blumenfeld, A. (Author), De Wit, G.C (Author), Florijn, R.J (Author), Fulton, A.B (Author), Gradstein, L. (Author), Kruijt, C.C (Author), Lasseaux, E. (Author), Perez, Y. (Author), Schalij-Delfos, N.E (Author), Van Genderen, M.M (Author), Yahalom, C. (Author), Zanlonghi, X. (Author)
Format:	Article
Language:	English
Published:	Association for Research in Vision and Ophthalmology Inc. 2022
Subjects:	adolescent Adolescent adult Adult aged Aged Albinism, Oculocutaneous Amino Acid Transport Systems, Neutral amino acid transporter anterior eye segment Anterior Eye Segment Article child Child Child, Preschool clinical article clinical trial comparative study DNA dna mutational analysis DNA Mutational Analysis Dutchman female Female FHONDA FHONDA syndrome follow up Follow-Up Studies Fovea Centralis Foveal hypoplasia frameshift mutation France gene deletion gene mutation genetics human Humans hypopigmentation infant Infant iris disease iris translucency Israel male Male Melanin metabolism middle aged Middle Aged Misrouting missense mutation multicenter study mutation Mutation Netherlands oculocutaneous albinism ophthalmoscopy optic nerve hypoplasia optical coherence tomography optokinetic nystagmus phenotype Phenotype photoreceptor preschool child retina fovea retinal pigment epithelium Retrospective Studies retrospective study SLC38A8 Slc38a8 protein, human slit lamp microscopy syndrome Syndrome United States visual acuity Visual Acuity visual evoked potential visual impairment young adult Young Adult
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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

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