Anya A Trumler1. 1. Krieger Children's Eye Center, The Johns Hopkins Hospital, Baltimore, Maryland 21287-9028, USA. atrumler@jhmi.edu
Abstract
PURPOSE OF REVIEW: The purpose of this review is to outline those systemic disorders with associated cataracts to help in the evaluation and diagnosis of the patient with pediatric cataract who has systemic abnormalities. RECENT FINDINGS: With the profound advancement in genetics, both making and confirming a diagnosis in rare syndromic disorders have become even more possible. By diagnosing a syndromic cataract, the patient and family members are afforded the opportunity to obtain a better understanding of their disorder as well as develop expectations as to the course of their child's disorder. SUMMARY: The intent of this article is to act as a resource for helping to determine the cause of cataracts based on the lens appearance, age of onset and systemic findings. Children with cataracts, especially when bilateral, require a comprehensive history and ophthalmic examination with physician awareness toward other organ system involvement. A basic assessment of facial, skeletal, genitourinary, gastrointestinal and integumentary abnormalities is beneficial. In this review, there are numerous tables that are to act as a resource in developing a differential diagnosis and guide further systemic and genetic evaluation.
PURPOSE OF REVIEW: The purpose of this review is to outline those systemic disorders with associated cataracts to help in the evaluation and diagnosis of the patient with pediatric cataract who has systemic abnormalities. RECENT FINDINGS: With the profound advancement in genetics, both making and confirming a diagnosis in rare syndromic disorders have become even more possible. By diagnosing a syndromic cataract, the patient and family members are afforded the opportunity to obtain a better understanding of their disorder as well as develop expectations as to the course of their child's disorder. SUMMARY: The intent of this article is to act as a resource for helping to determine the cause of cataracts based on the lens appearance, age of onset and systemic findings. Children with cataracts, especially when bilateral, require a comprehensive history and ophthalmic examination with physician awareness toward other organ system involvement. A basic assessment of facial, skeletal, genitourinary, gastrointestinal and integumentary abnormalities is beneficial. In this review, there are numerous tables that are to act as a resource in developing a differential diagnosis and guide further systemic and genetic evaluation.
Authors: Linda M Reis; Rebecca C Tyler; Sanaa Muheisen; Victor Raggio; Leonardo Salviati; Dennis P Han; Deborah Costakos; Hagith Yonath; Sarah Hall; Patricia Power; Elena V Semina Journal: Hum Genet Date: 2013-03-19 Impact factor: 4.132
Authors: Caterina Sellitto; Leping Li; Junyuan Gao; Michael L Robinson; Richard Z Lin; Richard T Mathias; Thomas W White Journal: J Clin Invest Date: 2013-11-25 Impact factor: 14.808