Novel Maculopathy in Patients With Spinocerebellar Ataxia Type 1 Autofluorescence Findings and Functional Characteristics

Vaclavik, Véronika; Borruat, François‐Xavier; Ambresin, Aude; Munier, Francis L.

doi:10.1001/jamaophthalmol.2013.1127

Cited by 13 publications

(11 citation statements)

References 10 publications

(15 reference statements)

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“…A study for macular thickness evaluation using OCT has reported that 7 patients with SCA1 showed significantly reduced average macular thickness within 3 mm of the fovea (Pula et al, 2011). A case report of two patients showing a gradually decreased vision to 6/60, and symmetric hypopigmentation at the macula in both eyes, with OCT demonstrating reduced thickness of the outer nuclear layer, and bilateral hyporeflective foveal cavity corresponding to the disruption of photoreceptor ellipsoid zone has reported, similar to those reported previously in achromatopsia and cone dystrophy (Vaclavik et al, 2013) (Birch et al, 2011). Lebranchu et al (2013) has introduced 4 members of a SCA1 family showing macular abnormalities from disorganization of the photoreceptor outer segement layer, abnormal foveal outer segment cavitation to bilateral macular atrophy.…”

Section: Spinocerebellar Ataxia Typesupporting

confidence: 84%

“…Recently, various degrees of macular degeneration have been thought as another important cause of visual loss as well as optic nerve dysfunction in SCA1 patients (Lebranchu et al, 2013;Vaclavik et al, 2013). Interestingly, the macular pathology could not be clearly found through funduscopic examination in some patients, which can imply the importance of obtaining OCT and multifocal ERG in SCA1 patients, particularly in those with reduced visual acuity.…”

Section: Spinocerebellar Ataxia Typementioning

confidence: 99%

“…A summary of the ophthalmic manifestations of the polyQ autosomal dominant SCAs outlined in this review is provided in Table 1. Pula et al, 2011;Stricker et al, 2011;Lebranchu et al, 2013;Vaclavik et al, 2013;Nishiguchi et al, Pogacar et al, 1978;Rufa et al, 2002;Velazquez Perez et al, 2007;Geiner et al, 2008;Pula et al, 2011;Di Fabio et al, 2012;Jensen et al, Mariotti et al, 2007;Hübner et al, 2007;Rosini et al, 2020 SCA, spinocerebellar ataxia; RNFL, retinal nerve fiber layer; VOR, vestibulo-ocular reflex.…”

Section: Introductionmentioning

confidence: 99%

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Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review

2020

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Spinocerebellar ataxia (SCA) is a part of the cerebellar neurodegenerative disease group that is diverse in genetics and phenotypes. It usually shows autosomal dominant inheritance. SCAs, always together with the cerebellar degeneration, may exhibit clinical deficits in brainstem or eye, especially retina or optic nerve. Interestingly, autosomal dominant SCAs share a common genetic mechanism; the length of the glutamine chain is abnormally expanded due to the increase in the cytosine-adenine-guanine (CAG) repeats of the disease causing gene. Studies have suggested that the mutant ataxin induces alteration of protein conformation and abnormal aggregation resulting in nuclear inclusions, and causes cellular loss of photoreceptors through a toxic effect. As a result, these pathologic changes induce a downregulation of genes involved in the phototransduction, development, and differentiation of photoreceptors such as CRX, one of the photoreceptor transcription factors. However, the exact mechanism of neuronal degeneration by mutant ataxin restricted to only certain type of neuronal cell including cerebellar Purkinje neurons and photoreceptor is still unclear. The most common SCAs are types 1, 2, 3, 6, 7, and 17 which contain about 80% of autosomal dominant SCA cases. Various aspects of eye movement abnormalities are evident depending on the degree of cerebellar and brainstem degeneration in SCAs. In addition, certain types of SCAs such as SCA7 are characterized by both cerebellar ataxia and visual loss mainly due to retinal degeneration. The severity of the retinopathy can vary from occult macular photoreceptor disruption to extensive retinal atrophy and is correlated with the number of CAG repeats. The value of using optical coherence tomography in conjunction with electrodiagnostic and genetic testing is emphasized as the combination of these tests can provide critical information regarding the etiology, morphological evaluation, and functional significances. Therefore, ophthalmologists need to recognize and differentiate SCAs in order to properly diagnose and evaluate the disease. In this review, we have described and discussed SCAs showing ophthalmic abnormalities with particular attention to their ophthalmic features, neurodegenerative mechanisms, genetics, and future perspectives.

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Section: Spinocerebellar Ataxia Typesupporting

confidence: 84%

Section: Spinocerebellar Ataxia Typementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review

2020

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“…25 Vaclavik et al described hypopigmented macular RPE and a loss of photoreceptors with a subsequent central depression of electrical potentials in 2 patients using OCT and multifocal electroretinogram. 26 Lebranchu et al described altered foveal lamination and abnormal spacing between RPE and external limiting membrane in 4 patients. 24 Despite different terminology and discrepancies in examination methods, provided images in combination with descriptions highly suggest that the case reports and our study all report on the same macular pathology.…”

Section: Discussionmentioning

confidence: 99%

“…The macular pathologies reported here are in line with three previously published cases. [24][25][26] Saito et al described an SCA-ATXN1 patient with RPE reduction in fundus examination, subsequently reduced HC-VA, and loss of color vision and classified the changes as pigmentary macular dystrophy similar to the alterations observed in SCA7. 25 Vaclavik et al described hypopigmented macular RPE and a loss of photoreceptors with a subsequent central depression of electrical potentials in 2 patients using OCT and multifocal electroretinogram.…”

Section: Discussionmentioning

confidence: 99%

Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1

Oertel

Zeitz

Rönnefarth

et al. 2020

Movement Disord Clin Pract

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Background Spinocerebellar ataxia type 1 (SCA‐ATXN1) is an inherited progressive ataxia disorder characterized by an adult‐onset cerebellar syndrome combined with nonataxia signs. Retinal or optic nerve affection are not systematically described. Objectives To describe a retinal phenotype and its functional relevance in SCA‐ATXN1. Methods We applied optical coherence tomography (OCT) in 20 index cases with SCA‐ATXN1 and 22 healthy controls (HCs), investigating qualitative changes and quantifying the peripapillary retinal nerve fiber layer (pRNFL) thickness and combined ganglion cell and inner plexiform layer (GCIP) volume as markers of optic atrophy and outer retinal layers as markers of maculopathy. Visual function was assessed by high‐ (HC‐VA) and low‐contrast visual acuity (LC‐VA) and the Hardy‐Rand‐Rittler pseudoisochromatic test for color vision. Results Five patients (25%) showed distinct maculopathies in the ellipsoid zone (EZ). Furthermore, pRNFL ( P < 0.001) and GCIP ( P = 0.002) were reduced in patients (pRNFL, 80.86 ± 9.49 μm; GCIP, 1.84 ± 0.16 mm 3 ) compared with HCs (pRNFL, 97.02 ± 8.34 μm; GCIP, 1.98 ± 0.12 mm 3 ). Outer macular layers were similar between groups, but reduced in patients with maculopathies. HC‐VA ( P = 0.002) and LC‐VA ( P < 0.001) were reduced in patients (HC‐VA [logMAR]: 0.01 ± 010; LC‐VA [logMAR]: 0.44 ± 0.16) compared with HCs (HC‐VA [logMAR]: –0.12 ± 0.08; LC‐VA [logMAR]: 0.25 ± 0.05). Color vision was abnormal in 2 patients with maculopathies. Conclusions A distinct maculopathy, termed EZ disruption, as well as optic atrophy add to the known nonataxia features in SCA‐ATXN1. Whereas optic atrophy may be understood as part of a widespread neurodegeneration, EZ disruption may be explained by effects of ataxin‐1 gene or protein on photoreceptors. Our findings extend the spectrum of nonataxia signs in SCA‐ATXN1 with potential relevance for diagnosis and monitoring.

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Friedreich’s Ataxia and More: Optical Coherence Tomography Findings in Rare Neurological Syndromes

Morgia¹,

Carbonelli²

2020

OCT and Imaging in Central Nervous System Diseases

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Novel Maculopathy in Patients With Spinocerebellar Ataxia Type 1 Autofluorescence Findings and Functional Characteristics

Cited by 13 publications

References 10 publications

Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review

Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review

Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1

Friedreich’s Ataxia and More: Optical Coherence Tomography Findings in Rare Neurological Syndromes

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