Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia

DeLuca, Adam P.; Whitmore, S. Scott; Tatro, Nicole J.; Andorf, Jeaneen L.; Faga, Ben P.; Faga, Laurel A.; Colins, Malia M.; Luse, Meagan A.; Fenner, Beau J.; Stone, Edwin M.; Scheetz, Todd E.

doi:10.1016/j.xops.2023.100397

Cited by 2 publications

(2 citation statements)

References 41 publications

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“…Of note, these degenerative alterations usually start at the equator and progressively, in a centripetal direction, involve the posterior pole and the peripapillary region [ 83 ]. These retinal changes can lead to the appearance of multiple scotomas in the peripheral visual field [ 84 ]. The full-field ERG may have reduced amplitude, initially in the scotopic component only, or be extinct [ 83 , 85 ].…”

Section: Discussionmentioning

confidence: 99%

“…The full-field ERG may have reduced amplitude, initially in the scotopic component only, or be extinct [ 83 , 85 ]. Children under 7 years have rarely been diagnosed [ 82 , 84 , 85 ]. In our case, considering the initial alterations of the fundus as early as 4 years, the presence of areas of chorioretinal atrophy at 6 years, and an altered ERG at 5 years, which presented an initial involvement of the retinal cones, the ophthalmologic involvement is to be considered very serious with probable poor outcome and early visual loss.…”

Section: Discussionmentioning

confidence: 99%

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Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review

Bonati,

Feresin,

Prontera

et al. 2024

Genes

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Given the crucial role of the personalized management and treatment of hearing loss (HL), etiological investigations are performed early on, and genetic analysis significantly contributes to the determination of most syndromic and nonsyndromic HL cases. Knowing hundreds of syndromic associations with HL, little comprehensive data about HL in genomic disorders due to microdeletion or microduplications of contiguous genes is available. Together with the description of a new patient with a novel 3.7 Mb deletion of the Xq21 critical locus, we propose an unreported literature review about clinical findings in patients and their family members with Xq21 deletion syndrome. We finally propose a comprehensive review of HL in contiguous gene syndromes in order to confirm the role of cytogenomic microarray analysis to investigate the etiology of unexplained HL.

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