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Mud-splattered pattern of retinal pigmentation in carrier of ocular albinism type 1.
Eye (Lond)
February 2025
Department of Ophthalmology, Hospital Nord, Aix-Marseille University, Marseille, France.
Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers.
Optom Vis Sci
February 2024
Department of University Eye Center, SUNY College of Optometry, New York, New York.
Significance: Carriers of ocular albinism demonstrate signs of retinal mosaicism with unique features on fundus autofluorescence testing, which differentiate this condition from other x-linked retinal disorders in carrier patients. Distinctive findings include a mud-splattered fundus with peripheral hyperpigmented streaks, which correlate with areas of hyperautofluorescence and hypoautofluorescence.
Purpose: This is the first reported case series of a family that demonstrates diagnostic retinal and fundus autofluorescence abnormalities related to retinal mosaicism in three sisters who were unaware they were carriers of ocular albinism type 1.
Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.
Invest Ophthalmol Vis Sci
June 2016
Department of Ophthalmology, Columbia University, New York, New York, United States 2Department of Pathology & Cell Biology, Columbia University, New York, New York, United States.
Purpose: To describe the complex, overlapping phenotype expressed in a two generation family harboring pathogenic mutations in the ABCA4 and GPR143 genes.
Methods: Clinical evaluation of a two generation family included quantitative autofluorescence imaging (qAF, 488-nm excitation) using a modified confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for varying laser power detector sensitivity, spectral-domain optical coherence tomography, and full-field ERG testing. Complete sequencing of the ABCA4 and GPR143 genes was carried out in each individual.
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