Asymmetric severity of diabetic retinopathy in Waardenburg syndrome

Tomoyuki Kashima, Hideo Akiyama, Shoji KishiDepartment of Ophthalmology, Gunma University School of Medicine, Gunma 371-8511, JapanAbstract: A 30-year-old female patient was referred to our institution due to vitreous hemorrhage. Best corrected visual acuity of her right and left eyes at her initial...

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Autores principales:	Kashima T, Akiyama H, Kishi S
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2011
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/23c310fd6f81488b869bff05b031d7f5
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spelling	oai:doaj.org-article:23c310fd6f81488b869bff05b031d7f52021-12-02T11:44:08ZAsymmetric severity of diabetic retinopathy in Waardenburg syndrome1177-54671177-5483https://doaj.org/article/23c310fd6f81488b869bff05b031d7f52011-12-01T00:00:00Zhttp://www.dovepress.com/asymmetric-severity-of-diabetic-retinopathy-in-waardenburg-syndrome-a8811https://doaj.org/toc/1177-5467https://doaj.org/toc/1177-5483Tomoyuki Kashima, Hideo Akiyama, Shoji KishiDepartment of Ophthalmology, Gunma University School of Medicine, Gunma 371-8511, JapanAbstract: A 30-year-old female patient was referred to our institution due to vitreous hemorrhage. Best corrected visual acuity of her right and left eyes at her initial visit was 10/20 and 20/20, respectively. Although hypochromic iris was observed in the superior iris between the 10 and 2 o&rsquo;clock positions in her right eye, her entire left eye exhibited hypochromic iris. Hypopigmentation of the fundus was seen in the superior part of her right eye. This eye also had a huge neovascularization on the optic disc that was 7 discs in diameter. Conversely, her left fundi showed hypopigmentation of the fundus in the entire region of the left eye, and dot hemorrhages were observed all over the left fundi, although no neovascularization could be seen microscopically. Fluorescein angiography showed a huge neovascularization in the right eye and a tiny neovascularization in the left eye. Gene analysis revealed the presence of the PAX3 gene homeobox domain mutation, which led to her being diagnosed as Waardenburg syndrome type 1. Magnetic resonance angiography showed there was no obstructive region at either of the internal carotid arteries and ophthalmic arteries. The severity of the diabetic retinopathy appeared to be correlated with the degree of hypopigmentation in the posterior fundus. We speculate that hypopigmentation of the fundus in Waardenburg syndrome may be responsible for the reduction in retinal metabolism, which led to a reduction in oxygen consumption and prevented further aggravation of the diabetic retinopathy. Only laser treatments using short wavelengths was effective in this case. While the extinction coefficient for hemoglobin when using green light is higher than when using yellow light, the differences between these wavelengths tend to disappear when oxygenated hemoglobin is present. To the best of the authors&rsquo; knowledge, this is the first case report of a patient with Waardenburg syndrome and diabetic retinopathy.Keywords: asymmetry, diabetic retinopathy, Waardenburg syndrome, albinism, hypopigmentationKashima TAkiyama HKishi SDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2011, Iss default, Pp 1717-1720 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Kashima T Akiyama H Kishi S Asymmetric severity of diabetic retinopathy in Waardenburg syndrome
description	Tomoyuki Kashima, Hideo Akiyama, Shoji KishiDepartment of Ophthalmology, Gunma University School of Medicine, Gunma 371-8511, JapanAbstract: A 30-year-old female patient was referred to our institution due to vitreous hemorrhage. Best corrected visual acuity of her right and left eyes at her initial visit was 10/20 and 20/20, respectively. Although hypochromic iris was observed in the superior iris between the 10 and 2 o&rsquo;clock positions in her right eye, her entire left eye exhibited hypochromic iris. Hypopigmentation of the fundus was seen in the superior part of her right eye. This eye also had a huge neovascularization on the optic disc that was 7 discs in diameter. Conversely, her left fundi showed hypopigmentation of the fundus in the entire region of the left eye, and dot hemorrhages were observed all over the left fundi, although no neovascularization could be seen microscopically. Fluorescein angiography showed a huge neovascularization in the right eye and a tiny neovascularization in the left eye. Gene analysis revealed the presence of the PAX3 gene homeobox domain mutation, which led to her being diagnosed as Waardenburg syndrome type 1. Magnetic resonance angiography showed there was no obstructive region at either of the internal carotid arteries and ophthalmic arteries. The severity of the diabetic retinopathy appeared to be correlated with the degree of hypopigmentation in the posterior fundus. We speculate that hypopigmentation of the fundus in Waardenburg syndrome may be responsible for the reduction in retinal metabolism, which led to a reduction in oxygen consumption and prevented further aggravation of the diabetic retinopathy. Only laser treatments using short wavelengths was effective in this case. While the extinction coefficient for hemoglobin when using green light is higher than when using yellow light, the differences between these wavelengths tend to disappear when oxygenated hemoglobin is present. To the best of the authors&rsquo; knowledge, this is the first case report of a patient with Waardenburg syndrome and diabetic retinopathy.Keywords: asymmetry, diabetic retinopathy, Waardenburg syndrome, albinism, hypopigmentation
format	article
author	Kashima T Akiyama H Kishi S
author_facet	Kashima T Akiyama H Kishi S
author_sort	Kashima T
title	Asymmetric severity of diabetic retinopathy in Waardenburg syndrome
title_short	Asymmetric severity of diabetic retinopathy in Waardenburg syndrome
title_full	Asymmetric severity of diabetic retinopathy in Waardenburg syndrome
title_fullStr	Asymmetric severity of diabetic retinopathy in Waardenburg syndrome
title_full_unstemmed	Asymmetric severity of diabetic retinopathy in Waardenburg syndrome
title_sort	asymmetric severity of diabetic retinopathy in waardenburg syndrome
publisher	Dove Medical Press
publishDate	2011
url	https://doaj.org/article/23c310fd6f81488b869bff05b031d7f5
work_keys_str_mv	AT kashimat asymmetricseverityofdiabeticretinopathyinwaardenburgsyndrome AT akiyamah asymmetricseverityofdiabeticretinopathyinwaardenburgsyndrome AT kishis asymmetricseverityofdiabeticretinopathyinwaardenburgsyndrome
_version_	1718395270427836416

Asymmetric severity of diabetic retinopathy in Waardenburg syndrome

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