Artistic iris: A case of congenital sectoral heterochromia iridis [PDF]
Journal of Ophthalmic & Vision Research, 2018 Mandeep Tomar +3 more
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A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report [PDF]
BMC Endocrine Disorders, 2019 Background We report a novel mutation within the StAR gene, causing congenital adrenal hyperplasia, with the so far unreported association with heterochromia iridis.
Vera Splittstösser +5 more
doaj +2 more sources
Windows to the Soul- Heterochromia Iridis
NUST Journal of Natural Sciences, 2022 Eye colour in humans is a distinct character, and an important trait of an individual’s personality. Heterochromia iridis is a unique phenotype. It is an exceedingly rare condition caused by mutations in genes responsible for synthesis, distribution ...
Saaim Asif +3 more
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Bilateral cochlear implantation in a child with Waardenburg syndrome: A case report [PDF]
Frontiers in Pediatrics, 2022 BackgroundWaardenburg syndrome (WS) is a rare genetic disorder that presents with clinical characteristics such as white forelock, congenital deafness, dystopia canthorum, and heterochromia iridis.
Xiaohui Wang +3 more
doaj +2 more sources
Ophthalmic associations of oculodermal melanocytosis in a tertiary eye hospital in South Asia [PDF]
Therapeutic Advances in Ophthalmology, 2021 Oculodermal melanocytosis (ODM), though rare, is associated with a number of sight-threatening complications including glaucoma. The purpose of this Case Series study was to determine the ophthalmic features in patients diagnosed with ODM.
Bipul Kumer De Sarker +6 more
doaj +2 more sources
Genetic analysis of iris pigmentation in Swiss pig breeds identifies a missense KITLG variant as a potential causal factor for pale and heterochromatic irises [PDF]
Genetics Selection EvolutionBackground Iris pigmentation is a heritable trait with a complex genetic architecture. While the genetic basis of iris pigmentation has been extensively studied in humans, little is known about iris pigmentation in pigs.
Wim Gorssen +7 more
doaj +2 more sources
A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV [PDF]
BMC Medical Genomics, 2023 Background Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris.
Yanan Wang +3 more
doaj +2 more sources
A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome [PDF]
American Journal of Ophthalmology Case Reports, 2021 Purpose: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). Observations: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with ...
Maram Alnefaie +2 more
doaj +2 more sources
Hyphaema, heterochromia and hyperpigmented cutaneous nodules [PDF]
Oman Journal of OphthalmologyJuvenile xanthogranuloma (JXG) is a rare, benign granulomatous disorder predominantly affecting young children, characterized by the presence of Touton giant cells.
Nidhi Mamtani +7 more
doaj +2 more sources
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Waardenburg syndrome (WS) is a rare autosomal‐dominant syndrome and is characterized by sensorineural hearing loss and pigment abnormalities. It is subdivided into four types according to the clinical characteristics.
Jing Wang +10 more
doaj +2 more sources