Congenital corneal anesthesia in children with the VACTERL association.
Cruysberg JR. Draaijer RW. Pinckers A. Brunner HG.
Institute of Ophthalmology, University Hospital Nijmegen, The Netherlands. firstname.lastname@example.org
PURPOSE: To describe ocular manifestations in patients with the VACTERL (vertebral, anal, cardiovascular, tracheoesophageal, renal, and limb defects) association. METHOD: We reviewed the medical records of patients with the VACTERL association who had undergone treatment for amblyopia at the orthoptic department. RESULTS: A striking similarity was found in three unrelated children, who, in addition to clinical manifestations of VACTERL association, showed total corneal anesthesia of one or both eyes that had resulted in recurrent corneal erosions, keratitis, and permanent corneal opacities. Other ocular manifestations included nonparalytic strabismus, anisometropia, and amblyopia. CONCLUSION: Congenital corneal anesthesia may be part of the VACTERL association.
Surgical removal of solitary hepatic metastasis from choroidal melanoma.
Gunduz K. Shields JA. Shields CL. Sato T. Mastrangelo MJ.
Oncology Service, Wills Eye Hospital, Philadelphia, PA 19107, USA.
PURPOSE: To report surgical management of solitary hepatic metastasis that occurred 25 years after an enucleation for uveal melanoma. METHODS: A 16-year-old girl, diagnosed with choroidal melanoma and treated with enucleation, was found 25 years later to have liver metastasis affecting the entire left lobe of the liver. RESULTS: She underwent partial hepatectomy with removal of the metastatic melanoma. Four years later, she was found to have a smaller circumscribed nodular melanoma in the remaining right lobe of the liver, also treated with resection. She has remained disease-free for 2 years, with no evidence of systemic disease. CONCLUSION: Surgical excision may be a useful treatment option in selected cases with solitary, circumscribed liver metastasis from uveal melanoma.
Ophthalmic and genetic screening in pedigrees with familial adenomatous polyposis.
Ruhswurm I. Zehetmayer M. Dejaco C. Wolf B. Karner-Hanusch J.
Department of Ophthalmology, University of Vienna, Austria. email@example.com
PURPOSE: To study the possible association between ophthalmic findings, genetic status, and clinical course of the disease in Austrian pedigrees with familial adenomatous polyposis (FAP). METHODS: Thirty-nine members of 16 consecutive FAP families with 20 affected patients and 19 relatives with a 50% a priori risk to develop the disease were examined ophthalmologically. The intestinal status of all persons was established by colonoscopy. Direct or indirect molecular genetic analysis, or both, was possible in eight of the 16 FAP families. RESULTS: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) was discovered in 15 (75%) of the 20 persons affected by familial adenomatous polyposis. Five (25%) of the patients with an established FAP were CHRPE-negative. Four of the 19 at-risk individuals were CHRPE-positive. According to DNA analysis, five of the 19 at-risk relatives had a high risk to develop a manifest disease. The ophthalmoscopic tests were in complete agreement with the molecular risk estimation. Furthermore, the combined results of endoscopy and ophthalmoscopy suggested a relationship between a positive CHRPE status and the severity of FAP. CONCLUSIONS: Ophthalmic examinations facilitate predictive diagnosis in FAP patients and first-degree relatives, permitting a noninvasive, highly reliable risk assessment. When present, CHRPE lesions are a reliable clinical marker for FAP in CHRPE-positive families. In CHRPE negative families, negative ophthalmic examinations are of no predictive value. The CHRPE status can add information about the location of the genetic mutation. The combination of an ophthalmic examination with DNA analysis and endoscopy improves the risk assessment of FAP carriers.