Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report

We present a case involving a patient whose clinical phenotype aligns with oculocutaneous albinism (OCA), yet exhibits a complex genotype primarily characterized by variants of unknown significance (VUS). An 11-year-old boy manifested iris hypopigmentation and translucency, pronounced photophobia, d...

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Veröffentlicht in:	International journal of molecular sciences 2024-06, Vol.25 (12), p.6442
Hauptverfasser:	Bjeloš, Mirjana, Ćurić, Ana, Bušić, Mladen, Rak, Benedict, Kuzmanović Elabjer, Biljana
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptation Albinism Albinism, Oculocutaneous - genetics Calpain - genetics Case Report Child Genes Genetic aspects Genetic testing Genetics Hair Humans Light Male Monophenol Monooxygenase - genetics Mutation Mutation, Missense Pedigree Phenotype Photoreceptors Protocol Skin Visual acuity Vitreoretinopathy, Proliferative - genetics Vitreoretinopathy, Proliferative - pathology
Online-Zugang:	Volltext
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