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UCLA UCLA Previously Published Works Title The interplay of genetics and surgery in ophthalmic care. Permalink https://escholarship.org/uc/item/7nj489hp Journal Seminars in ophthalmology, 10(4) ISSN 0882-0538 Author Gorin, MB Publication Date 1995-12-01 DOI 10.3109/08820539509063801 Peer reviewed eScholarship.org Powered by the California Digital Library University of California Seminars in Ophthalmology ISSN: 0882-0538 (Print) 1744-5205 (Online) Journal homepage: http://www.tandfonline.com/loi/isio20 The Interplay of Genetics and Surgery in Ophthalmic Care Michael B. Gorin To cite this article: Michael B. Gorin (1995) The Interplay of Genetics and Surgery in Ophthalmic Care, Seminars in Ophthalmology, 10:4, 303-317, DOI: 10.3109/08820539509063801 To link to this article: http://dx.doi.org/10.3109/08820539509063801 Published online: 02 Jul 2009. Submit your article to this journal Article views: 9 View related articles Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=isio20 Download by: [UCLA Library] Date: 02 May 2017, At: 14:05 The Interplay of Genetics and Surgery in Ophthalmic Care Michael 6. Gorin LTHOUGH ONLY a minor component of dures. Genetic conditions that affect the eye A the surgical volume of ophthalmic care, directly may also affect the surgicaI outcomes of genetic disorders are among the most challeng- routine procedures. The coexistence of Fuch’s ing cases for the ophthalmic surgeon. Ophthal- endothelial dystrophy in patients undergoing mic surgery may be indicated to address specific routine cataract extraction can contribute to aspects of heritable disorders that involve the postoperative corneal edema. Refractive sur- failure of proper development and function of gery in individuals with unsuspected keratoco- ocular structures or the disruption of normal nus has resulted in unsatisfactory results and tissues by genetically determined abnormalities, progressive myopia and astigmatism.’ Sickle cell such as tumors or degenerative conditions. Cra- disease and trait are risk factors for anterior niosynostoses, hereditary ptosis, congenital stra- segment ischemia in scleral buckling surgery bismus, corneal dystrophies, juvenile glaucoma, and extraocular muscle surgery.* Although each congenital cataracts, dislocated lenses, retinal of these genetic conditions is uncommon or tumors (retinoblastomas and hemangiomas), rare, the widespread prevalence of strabismus, and sickle cell retinopathy are examples of cataract, retinal, and refractive surgery make it ophthalmic genetic conditions that frequently highly likely that these patients will be encoun- require surgical management. The ophthalmolo- tered. In addition, as we come to recognize that gist may be called on to manage the secondary genetics can play more subtle roles in physiologi- complications of genetic disorders such as expo- cal responses, there is the potential for anticipat- sure problems related to facial paralysis after ing those patients who will be at an increased removal of acoustic neuromas, ocular exposure risk of experiencing adverse responses to oph- from dysautonomias, or strabismus from the thalmic surgery. We will review this aspect of ocular fibrosis syndromes. In this overview of genetics to provide the clinician with guidelines ophthalmic surgery and genetics we will con- toward avoiding surgical complications from sider the surgical management of ophthalmic familial disorders. genetic disorders, the potential impact of genet- SURGICAL MANAGEMENT OF OCULAR ics on ophthalmic surgery, and those conditions GENETIC DISORDERS that require special attention by the surgeon. In most instances, articles regarding the surgical For a number of genetic disorders, ocular management of genetic disorders are limited to surgery is well established and the treatment of case reports and small surgical series. The rarity choice. There is a considerable amount of of most conditions precludes controlled clinical literature addressing surgical methods for rou- studies. I have included extensive references tine strabismus and for more difficult eye align- that address surgical issues so that the reader ment problems such as Duane’s syndrome. Simi- can further explore specific disorders that are larly, the treatment of congenital cataract^,^-^ only briefly mentioned in this overview. congenital pt~sis,’,~eyelid reconstruction,”Il and Limited attention has been directed to the congenital or juvenile glaucoma’*-’*has been impact of genetic conditions on routine ophthal- described extensively. There are a number of mic surgery. Surgeons, patients, and health care rarer genetic disorders that pose additional payors continue to have increasing expectations potential challenges for the surgeon and pa- for uncomplicated and successful ophthalmic procedures. It is increasingly important to iden- From the Departments of Ophthalmology and Human tify underlying issues that may affect intraopera- Genetics, University of Pittsburgh School of Medicine and tive safety and surgical outcomes. There are Graduate School of Public Health, Pittsburgh, PA. genetic factors and conditions that affect an Address reprint requests to Michael B. Gorin, MD, Depart- ment of Ophthalmology, The Eye & Ear Institute Building, 203 individual’s response to medications, anesthe- Lorhrop St, Pittsburgh, PA 15213. sia, pain, and wound healing that can greatly Copyright 0 1995 by W.B. Saunders Company alter the outcomes of routine ophthalmic proce- 088282-053819511004-0005$5.00lO Seminars in Ophthalmology, Vol 10, No 4 (December), 1995: pp 303-317 303 304 MICHAEL 8. GORlN tient. These disorders serve as examples of why giomas, treatment is indicated when visual devel- the ophthalmologist must consider the unique opment and function are threatened. The impact of each genetic condition on ocular and natural history of these lesions frequently in- systemic anatomy and physiology. cludes spontaneous involution, although a num- ber of interventions including corticosteroid Orbital Surgery for Craniodysostosis and interferon injections have been ~sed.~')-~' Recently found to be caused by mutations in The majority of hemangiomas are sporadic, the FGFR2 and FGFRl genes, Crouzon's syn- although familial forms have been reported. drome and Pfeiffer Syndrome are part of a The ophthalmic surgeon, in addition to establish- group of autosomal dominant disorders collec- ing the anatomic extent of the lesion or lesions tively known as the craniosynostoses. These that affect the lid and orbit, should take the conditions are characterized by the premature appropriate steps to ensure that other systemic fusion of the cranial sutures creating marked and central nervous system (CNS) manifesta- deformities of the head including hypertelorism tions are not overlooked. If an individual is and laterally displaced orbits. Rarely, prema- found to have multiple hemangiomas (orbital, ture fusion of the metopic suture (less than 10% intraocular, visceral, or in the CNS), then other of craniosynostosis cases) results in close-set family members should be contacted and evalu- eyes.1y.20Oculoplastic surgeons, as well as maxil- ated. lofacial, plastic, and neurosurgeons, have suc- In the case of neurofibromas, surgical exci- cessfully tackled the surgical challenges of this sion is difficult because of the plexiform nature genetic condition.21 Three-dimensional com- of the lesion with the potential for damage to puted tomography imaging and multidisci- normal tissues. Lesions often extend beyond the plinary surgical teams have enhanced the surgi- orbit and can encroach on the brain. Intracra- cal o~tcomes.~~-~~Optic nerve compression from nial approaches may be required and partial bony malformations and papilledema from in- resections have had generally disappointing re- creased intracranial pressure have been re- sults because of recurrence and enlargement of ported. Strabismus is not uncommon in these the neurofibr~mas.~~-~~ patients, and extraocular muscle surgery may be A great deal has been written regarding the required. The surgeon may encounter abnormaI repair of congenital ptosis syndr~mes.~JDuke- muscle insertions during traditional recession Elder has cited eight major categories of con- or resection procedures that may alter the genital pto~is,~"seven of which represent famil- surgical response. Neurofibromatosis type I can ial forms. The identification of unilateral or also cause significant orbital deformities with bilateral congenital ptosis in a patient should bony erosion and unilateral proptosis. The sur- prompt an effort to identify other potential gical issues regarding this disorder are ad- family members. The key aspects to surgical dressed in the following section on lid surgery. repair are the residual amount of levator func- tion, the extent to which the eye has a normal Lid Surgery Bell's phenomenon, the progressive or station- The principal goals of lid surgery are to ary nature of the underlying disorder, and the protect the eye, prevent occlusion or induced potential of associated abnormalities that may anisometropic amblyopia, ensure normal visual compromise the integrity of the eye.7,8-41,42Some function, and re-establish a normal facial appear- ptosis may be protective for eyes that lack an ance. Serious malformations of eyelid develop- adequate Bell's phenomenon. Poor tear produc- ment may be isolated or part of more complex tion (congenital Horners, ectodermal dyspla- genetic syndromes. Repair of these abnormali- sias)
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