[Sporadic aniridia and Wilm's tumor--a case report and review of recommendation for diagnostic approach in WAGR's syndrome]. / Aniridia sporadyczna i guz Wilmsa--opis przypadku i rekomendacje postepowania diagnostycznego u chorych z zespolem WAGR.

The current paper presents a case of 14 months old girl with WAGR's syndrome. This syndrome is a genetic disorder characterized by the deletion at 11p13 locus which gives clinical presentation of aniridia, Wilms' tumor, genitourinary anomalies and mental retardation. Although WAGR's syndrome is a rare disorder, knowledge of its presentation is helpful in early diagnosis of nephroblastoma and may have impact on clinical outcome of the patient. Since aniridia may be the first symptom of WAGR's syndrome, it is recommended that all neonates with aniridia need to be screened for deletion of WT1 on chromosome 11p13. These with deletions should be monitored regularly for tumor development.

Visual symptoms in McCune-Albright syndrome--case report.

McCune-Albright syndrome is a rare complex genetic disorder. It is diagnosed on the basis of bone lesions--fibrous dysplasia, accompanied by at least one additional symptom: hyperactivity of endocrine glands or cafe au lait skin spots. We present symptoms, clinical picture and diagnostic procedure in a 15-year-old patient with visual disorders in the course of McCune-Albright syndrome. The ophthalmic disturbances were the part of described syndrome. The active behaviour of the ophthalmologist in multidisciplinary diagnostic procedure led to the establishment of a proper diagnosis and optimal treatment.