Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

Hiroyuki Sakuramoto,1 Kazuki Kuniyoshi,1 Kazushige Tsunoda,2 Masakazu Akahori,2 Takeshi Iwata,2 Yoshikazu Shimomura1 1Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan; 2National Institute of Sensory Organs, National Hospital Organization Tokyo Medica...

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Autores principales: Sakuramoto H, Kuniyoshi K, Tsunoda K, Akahori M, Iwata T, Shimomura Y
Formato: article
Lenguaje:EN
Publicado: Dove Medical Press 2013
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Ophthalmology
RE1-994
Acceso en línea:https://doaj.org/article/56ca8200ccbd4085a29c19204641f865
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spelling oai:doaj.org-article:56ca8200ccbd4085a29c19204641f8652021-12-02T03:06:46ZTwo siblings with late-onset cone–rod dystrophy and no visible macular degeneration1177-54671177-5483https://doaj.org/article/56ca8200ccbd4085a29c19204641f8652013-08-01T00:00:00Zhttp://www.dovepress.com/two-siblings-with-late-onset-conendashrod-dystrophy-and-no-visible-mac-a14185https://doaj.org/toc/1177-5467https://doaj.org/toc/1177-5483Hiroyuki Sakuramoto,1 Kazuki Kuniyoshi,1 Kazushige Tsunoda,2 Masakazu Akahori,2 Takeshi Iwata,2 Yoshikazu Shimomura1 1Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan; 2National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan Background: We report our findings in two siblings with late-onset cone–rod dystrophy (CRD) with no visible macular degeneration. Cases and methods: Case 1 was an 82-year-old man who first noticed a decrease in vision and color blindness in his early seventies. His mother and younger sister also had visual disturbances. His decimal visual acuity was 0.3 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed normal fundi, and fluorescein angiography was also normal in both eyes. The photopic single flash and flicker eletroretinograms (ERGs) were severely attenuated and the scotopic ERGs were slightly reduced in both eyes. Case 2 was the 80-year-old younger sister of Case 1. She first noticed a decline in vision and photophobia in both eyes in her early seventies. Her decimal visual acuity was 0.4 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed mottling of the retinal pigment epithelium in the midperiphery with no visible macular degeneration. The photopic single flash and flicker ERGs were severely attenuated, and the scotopic ERGs were slightly reduced in both eyes. Conclusion: These siblings are the oldest reported cases of CRD with no visible macular degeneration. Thus, CRD should be considered in patients with reduced visual acuity, color blindness, and photophobia even if they are older than 70 years. Keywords: cone–rod dystrophy, peripheral cone dystrophy, occult macular dystrophy, late onset, macular degeneration, negative ERGSakuramoto HKuniyoshi KTsunoda KAkahori MIwata TShimomura YDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2013, Iss default, Pp 1703-1711 (2013)
institution DOAJ
collection DOAJ
language EN
topic Ophthalmology
RE1-994
spellingShingle Ophthalmology
RE1-994
Sakuramoto H
Kuniyoshi K
Tsunoda K
Akahori M
Iwata T
Shimomura Y
Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
description Hiroyuki Sakuramoto,1 Kazuki Kuniyoshi,1 Kazushige Tsunoda,2 Masakazu Akahori,2 Takeshi Iwata,2 Yoshikazu Shimomura1 1Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan; 2National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan Background: We report our findings in two siblings with late-onset cone–rod dystrophy (CRD) with no visible macular degeneration. Cases and methods: Case 1 was an 82-year-old man who first noticed a decrease in vision and color blindness in his early seventies. His mother and younger sister also had visual disturbances. His decimal visual acuity was 0.3 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed normal fundi, and fluorescein angiography was also normal in both eyes. The photopic single flash and flicker eletroretinograms (ERGs) were severely attenuated and the scotopic ERGs were slightly reduced in both eyes. Case 2 was the 80-year-old younger sister of Case 1. She first noticed a decline in vision and photophobia in both eyes in her early seventies. Her decimal visual acuity was 0.4 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed mottling of the retinal pigment epithelium in the midperiphery with no visible macular degeneration. The photopic single flash and flicker ERGs were severely attenuated, and the scotopic ERGs were slightly reduced in both eyes. Conclusion: These siblings are the oldest reported cases of CRD with no visible macular degeneration. Thus, CRD should be considered in patients with reduced visual acuity, color blindness, and photophobia even if they are older than 70 years. Keywords: cone–rod dystrophy, peripheral cone dystrophy, occult macular dystrophy, late onset, macular degeneration, negative ERG
format article
author Sakuramoto H
Kuniyoshi K
Tsunoda K
Akahori M
Iwata T
Shimomura Y
author_facet Sakuramoto H
Kuniyoshi K
Tsunoda K
Akahori M
Iwata T
Shimomura Y
author_sort Sakuramoto H
title Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
title_short Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
title_full Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
title_fullStr Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
title_full_unstemmed Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
title_sort two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
publisher Dove Medical Press
publishDate 2013
url https://doaj.org/article/56ca8200ccbd4085a29c19204641f865
work_keys_str_mv AT sakuramotoh twosiblingswithlateonsetconendashroddystrophyandnovisiblemaculardegeneration
AT kuniyoshik twosiblingswithlateonsetconendashroddystrophyandnovisiblemaculardegeneration
AT tsunodak twosiblingswithlateonsetconendashroddystrophyandnovisiblemaculardegeneration
AT akahorim twosiblingswithlateonsetconendashroddystrophyandnovisiblemaculardegeneration
AT iwatat twosiblingswithlateonsetconendashroddystrophyandnovisiblemaculardegeneration
AT shimomuray twosiblingswithlateonsetconendashroddystrophyandnovisiblemaculardegeneration
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