title: Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome.
abstract: Norrie disease is a rare, but devastating cause of pediatric retinal detachment, universally portending a poor visual prognosis. This paper describes successful surgical management of an infant with total retinal detachment associated with Norrie disease mutation. The infant was a full-term white male who presented with bilateral total funnel retinal detachments (RDs). He underwent genetic testing, which demonstrated single-point mutation 133 G>A transition in exon 2 of the NDP gene. The retinal detachment was managed with translimbal iridectomy, lensectomy, capsulectomy, and vitrectomy. Careful dissection of the retrolental membranes resulted in opening of the funnel. Single-stage surgery in this child's eye achieved re-attachment of the posterior pole with progressive reabsorption of subretinal fluid and cholesterol without the need for external drainage. Fluorescein angiography, performed at 2 months postoperatively, demonstrated perfusion of major vascular arcades, but with significant abnormalities and aneurysmal changes of higher-order vessels, suggestive of retinal and vascular dysplasia. The child has maintained brisk light perception vision. Early surgical intervention with careful dissection of tractional tissues can potentially result in good anatomic outcomes in some patients with Norrie disease-associated retinal detachment. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:260-262.].
authors.forename: Bozho
authors.initials: B
authors.lastname: Todorich
authors.forename: Aristomenis
authors.initials: A
authors.lastname: Thanos
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Yonekawa
authors.forename: Antonio
authors.initials: A
authors.lastname: Capone
mesh_terms: D001766:Blindness / Q000150:complications / Q000151:congenital* / Q000175:diagnosis; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D005654:Fundus Oculi; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007498:Iris / Q000601:surgery*; D007903:Lens Capsule, Crystalline / Q000601:surgery*; D007908:Lens, Crystalline / Q000601:surgery*; D008297:Male; D009422:Nervous System Diseases / Q000150:complications* / Q000175:diagnosis; D012162:Retinal Degeneration; D012163:Retinal Detachment / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D013036:Spasms, Infantile / Q000150:complications* / Q000175:diagnosis; D013997:Time Factors; D014792:Visual Acuity; D014821:Vitrectomy / Q000379:methods*