Aniridia
Definition
A rare congenital ocular condition characterized by the complete or partial absence of the iris in one or both eyes. This structural anomaly is typically caused by a mutation in the PAX6 gene and is frequently accompanied by a severe reduction in visual acuity, nystagmus, pronounced photophobia, and a high risk of developing glaucoma or cataracts within the first decades of life.
Bilingual Equivalents
- Aniridia
- Iris absence
Grammatical & Source Details
| Inflection Type | Feminine noun, regular plural forms following standard medical terminology rules. |
| Formation | Neologistic adaptation from French 'aniridie', originally structured from the Greek privative prefix 'an-' and 'iris'. |
| Spelling / Pronunciation | [a.ni.ri.ˈdi.e] |
| Source | Lexicon of Clinical Ophthalmology and Genetic Syndromes |
Contextual Usage Examples
RO: Medicul a diagnosticat o formă parțială de aniridie în timpul primului control oftalmologic al sugarului.
EN: The physician diagnosed a partial form of aniridie during the infant's first ophthalmological examination.
RO: Deoarece suferă de aniridie, pacienta trebuie să poarte lentile de contact speciale pentru a reduce fotofobia.
EN: Because she suffers from aniridie, the patient must wear special contact lenses to reduce photophobia.
RO: Studiile genetice au corelat această aniridie izolată cu o deleție parțială la nivelul cromozomului unsprezece.
EN: Genetic studies have correlated this isolated aniridie with a partial deletion on chromosome eleven.
Idioms & Phrases
Aniridie congenitală / Congenital aniridia
RO: Absența completă a structurii iriene prezentă încă de la naștere, transmisă de obicei ereditar.
EN: The complete absence of the iris structure present from birth, usually transmitted hereditarily.
Aniridie traumatică / Traumatic aniridia / iridodialysis
RO: Pierderea sau smulgerea irisului în urma unui accident ocular sever sau a unei intervenții chirurgicale eșuate.
EN: The loss or avulsion of the iris resulting from severe ocular trauma or a failed surgical intervention.
Sindrom corelat cu aniridie / Aniridia-associated syndrome / WAGR syndrome
RO: Asociere clinică complexă în care lipsa irisului face parte dintr-un grup de malformații sistemice mai grave.
EN: A complex clinical association where the lack of an iris is part of a broader group of severe systemic malformations.
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