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Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).
Doc Ophthalmol. 2020 Jul 09 [Online ahead of print]DO

Abstract

PURPOSE

To report the 30-months' course of macular dystrophy in a patient with genetically confirmed spinocerebellar ataxia type1 (SCA1).

METHODS

Detailed ophthalmological examinations including best-corrected visual acuity (BCVA), perimetry, multimodal fundus imaging, and electrophysiological recordings were performed on a 52-year-old woman with SCA1. The number of CAG sequence repeats of the candidate gene was verified.

RESULTS

The baseline decimal BCVA was 0.2 OD and 0.3 OS. Goldman perimetry showed relative central scotomas and slight enlargements of Mariotte blind spot bilaterally. Ophthalmoscopy revealed no abnormalities in the macula and optic disk. Fundus autofluorescence (FAF) showed a circular hyperautofluorescence and round-shaped hypoautofluorescence in the macula. Optical coherence tomography (OCT) showed a loss of the interdigitation zone and ellipsoid zone (EZ) in the macula. Full-field scotopic and photopic Full-field electroretinograms (ERGs) were normal, and multifocal ERGs were decreased in the central area. After 30 months, the BCVA had not changed, but the FAF showed a spark-like hypoautofluorescence in the macula. The abnormal area of the EZ had expanded toward the periphery, and the rate of EZ loss was 199.7%/year OD and 206.8%/year OS. Genetic examinations revealed an increase in the number of heterozygous CAG repeats in the ATXN1 gene, and the CAG repeat number of the mutant allele ranged from 43 to 48.

CONCLUSIONS

The full-field scotopic and photopic ERGs were normal. The mfERGs were significantly smaller in the central region. OCT demonstrated bilateral photoreceptor atrophy in the macula, and the rate of EZ loss was more rapid than in other macular dystrophies. Spark-like hypoautofluorescence appeared during the course of the disease process which might be a specific feature of SCA1-related retinopathy.

Authors+Show Affiliations

Department of Ophthalmology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.Department of Laboratory Medicine, The Jikei University School of Medicine, Tokyo, Japan.Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.Department of Ophthalmology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan. UCL Institute of Ophthalmology, London, UK. Moorfields Eye Hospital, London, UK.Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.Department of Ophthalmology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. tsunodakazushige@kankakuki.go.jp. Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan. tsunodakazushige@kankakuki.go.jp.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32648025

Citation

Hirose, Ayane, et al. "Progress of Macular Atrophy During 30 Months' Follow-up in a Patient With Spinocerebellar Ataxia Type1 (SCA1)." Documenta Ophthalmologica. Advances in Ophthalmology, 2020.
Hirose A, Katagiri S, Hayashi T, et al. Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1). Doc Ophthalmol. 2020.
Hirose, A., Katagiri, S., Hayashi, T., Matsuura, T., Nagai, N., Fujinami, K., Iwata, T., & Tsunoda, K. (2020). Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1). Documenta Ophthalmologica. Advances in Ophthalmology. https://doi.org/10.1007/s10633-020-09782-z
Hirose A, et al. Progress of Macular Atrophy During 30 Months' Follow-up in a Patient With Spinocerebellar Ataxia Type1 (SCA1). Doc Ophthalmol. 2020 Jul 9; PubMed PMID: 32648025.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1). AU - Hirose,Ayane, AU - Katagiri,Satoshi, AU - Hayashi,Takaaki, AU - Matsuura,Tomokazu, AU - Nagai,Norihiro, AU - Fujinami,Kaoru, AU - Iwata,Takeshi, AU - Tsunoda,Kazushige, Y1 - 2020/07/09/ PY - 2020/04/21/received PY - 2020/06/30/accepted PY - 2020/7/11/entrez KW - ATXN1 KW - Electroretinogram KW - Fundus autofluorescence KW - Macular dystrophy KW - Optical coherence tomography KW - SCA1 KW - Spinocerebellar ataxia type1 JF - Documenta ophthalmologica. Advances in ophthalmology JO - Doc Ophthalmol N2 - PURPOSE: To report the 30-months' course of macular dystrophy in a patient with genetically confirmed spinocerebellar ataxia type1 (SCA1). METHODS: Detailed ophthalmological examinations including best-corrected visual acuity (BCVA), perimetry, multimodal fundus imaging, and electrophysiological recordings were performed on a 52-year-old woman with SCA1. The number of CAG sequence repeats of the candidate gene was verified. RESULTS: The baseline decimal BCVA was 0.2 OD and 0.3 OS. Goldman perimetry showed relative central scotomas and slight enlargements of Mariotte blind spot bilaterally. Ophthalmoscopy revealed no abnormalities in the macula and optic disk. Fundus autofluorescence (FAF) showed a circular hyperautofluorescence and round-shaped hypoautofluorescence in the macula. Optical coherence tomography (OCT) showed a loss of the interdigitation zone and ellipsoid zone (EZ) in the macula. Full-field scotopic and photopic Full-field electroretinograms (ERGs) were normal, and multifocal ERGs were decreased in the central area. After 30 months, the BCVA had not changed, but the FAF showed a spark-like hypoautofluorescence in the macula. The abnormal area of the EZ had expanded toward the periphery, and the rate of EZ loss was 199.7%/year OD and 206.8%/year OS. Genetic examinations revealed an increase in the number of heterozygous CAG repeats in the ATXN1 gene, and the CAG repeat number of the mutant allele ranged from 43 to 48. CONCLUSIONS: The full-field scotopic and photopic ERGs were normal. The mfERGs were significantly smaller in the central region. OCT demonstrated bilateral photoreceptor atrophy in the macula, and the rate of EZ loss was more rapid than in other macular dystrophies. Spark-like hypoautofluorescence appeared during the course of the disease process which might be a specific feature of SCA1-related retinopathy. SN - 1573-2622 UR - https://www.unboundmedicine.com/medline/citation/32648025/Progress_of_macular_atrophy_during_30_months'_follow-up_in_a_patient_with_spinocerebellar_ataxia_type1_(SCA1) L2 - https://doi.org/10.1007/s10633-020-09782-z DB - PRIME DP - Unbound Medicine ER -
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