What condition is due to an absent X chromosome and has established ocular findings?

Prepare for the NBEO Systemic Disease Exam. Use flashcards and multiple-choice questions to test your knowledge. Each question includes hints and explanations. Enhance your understanding and readiness for the exam.

Turner's Syndrome is a genetic disorder that occurs in females when one of the X chromosomes is completely or partially missing. This absence of an X chromosome leads to a variety of phenotypic manifestations, including specific ocular findings.

Individuals with Turner's Syndrome commonly exhibit features such as eyelid ptosis, strabismus, and refractive errors. Other ocular abnormalities can include cataracts and a greater predisposition to retinal detachment. These ocular findings are well documented and form part of the clinical assessment for individuals with this condition.

Understanding the genetic basis of Turner's Syndrome and its impact on ocular health is crucial for providing appropriate care and management for affected individuals. This makes it the correct answer to the question, as it addresses both the absence of an X chromosome and the established ocular findings associated with the condition.

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