Congenital horner syndrome with heterochromia iridis associated with ipsilateral internal carotid artery hypoplasia. [PDF]
J Clin Neurol, 2015 Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis.We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and ...
Deprez FC +3 more
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Preliminary study on association of ednrb gene with heterochromia iridis in cats (felis catus) [PDF]
Kafkas Universitesi Veteriner Fakültesi Dergisi, 2018 This study conducted an investigation on three exons of the endothelin receptor type B (EDNRB) gene of Thai odd-eyed cats to find out the association between the variations in the gene and heterochromia iridis. DNA sequencing analysis was performed on 11
Siriwadee CHOMDEJ +6 more
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Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation [PDF]
BMC Medical Genomics, 2021 Background The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder are sensorineural hearing loss and deficits of pigmentation in the skin, hair, and eye.
Safoura Zardadi +4 more
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HETEROCHROMIA IRIDIS - A CASE STUDY [PDF]
Exploratory Animal and Medical Research, 2014 Eye color in human range from the darkest shades of brown to the lightest tints of blue. It is a polygenic phenotypic character, controlled by multiple genes and is determined by the pigmentation of iris of the eye and the frequency- dependence of the ...
Mohua Guha, Debabrata Maity
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A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy [PDF]
BMC Neurology, 2021 Background Hereditary motor and sensory neuropathy, also referred to as Charcot–Marie–Tooth disease (CMT), is most often caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. This duplication causes CMT type 1A (CMT1A).
Nozomu Matsuda +6 more
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Clinical Presentation of Congenital Heterochromia Iridis in Pakistani Patients
Pakistan Journal of Medicine and DentistryHeterochromia iridis is a rare genetic disorder, characterized by variation in the concentration and distribution of the melanin pigment. It is caused by mutation in genes responsible for the synthesis of melanin pigment iris of the eye.
Beenish Azad +4 more
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Int J Trichology, 2015 We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair.
Kocak AY, Kocak O.
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A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene. [PDF]
Mol Genet Genomic Med, 2020 The present study describes a large Chinese WS2 family with a highly clinical heterogeneity. Clinical longitudinal follow‐up revealed progressive hearing loss in some patients. A nonsense mutation of c.328C>T (p.R110X) in MITF was identified. Abstract Background Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The
Yang S +5 more
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Unilateral Nevus of Ota with Palatal and Optic Disc Pigmentation with Coincidental Preauricular Tag- A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2020 Nevus of Ota also known as oculodermal melanosis presents as hyperpigmentation of face involving ophthalmic and maxillary branches of trigeminal nerve associated with ocular hyperpigmentation. It is due to confinement of melanocytes in the dermis. Most
Prasanna Nareddy, Ambati Divya
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