Ophthalmic Features of Spinocerebellar Ataxia Type 7: A Case Report

AlHilali, Sara; Almadhi, Nada H; Albalawi, Eman

doi:10.12659/ajcr.932279

Cited by 1 publication

(3 citation statements)

References 12 publications

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“…Compared with healthy controls, the most found alteration was a marked prolongation of P100 mean latency [20]. As seen in Table S1, numerous studies focused on full-field ERG, and results obtained generally demonstrated a prolonged 30-Hz flicker implicit time, with extinguished cone responses in more severely affected patients, indicating a widespread cone photoreceptor degeneration [14][15][16][17][18][19]22,25,27,28,30]. Results reported on scotopic responses were less consistent.…”

Section: Discussionmentioning

confidence: 99%

“…Color perception has been reported as one of the earlier ophthalmological signs. Different studies [13][14][15][16][17][18][19] studied color perception utilizing Ishihara color tests or Farnsworth's color test, when visual acuity permitted color testing, and described different degrees of color blindness. Four of the six patients studied by Abe et al had tritan color blindness with loss of blue cones [14], whereas other studies indicated more aspecific color alterations.…”

Section: Discussionmentioning

confidence: 99%

“…As SCA7 patients have significant foveal disruption, visual field examinations reflect this with the presence of commonly described central scotomas [14,16,18,27,29]. Miller et al performed visual field analysis on eight patients; only one had a normal Humphrey visual field, three had generalized depression, and four presented a central scotoma [20].…”

Section: Discussionmentioning

confidence: 99%

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Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7

Ciancimino,

Di Pippo,

Manco

et al. 2023

Life

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The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in this case series. A literature review revealed twenty-one publications regarding ocular manifestations of SCA7, and the most relevant aspects are summarized. The role of different imaging techniques in the follow-up of SCA7 patients is analyzed, including color vision testing, corneal endothelial topography, color fundus photography (CFP) and autofluorescence, near infrared reflectance imaging, spectral domain optical coherence tomography (SDOCT), visual field examination, and electrophysiological tests. SDOCT provides a rapid and non-invasive imaging evaluation of disease progression over time. Additional examination including NIR imaging can provide further information on photoreceptor alteration and subtle disruption of the RPE, which are not evident with CFP at an early stage. Electrophysiological tests provide essential results on the state of cone and rod dystrophy, which could be paramount in guiding future genetic therapies. Multimodal imaging is a valuable addition to comprehensive ophthalmological examination in the diagnosis and management of patients with SCA7.

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