Familial Cavitary Optic Dik Anomalie: Clinical Feature of a Large Family with Example of Progreive Optic Nerve Head Cupping Original Reearch Article

Purpoe To decribe a multigenerational family with autoomal dominant inheritance of cavitary optic nerve head (ONH) anomalie and abnormal ONH vaculature. Deign Decription of a ingle family with inherited eye dieae. Method A four-generation pedigree wa invetigated. Examination included viual acuity, lit-lamp biomicrocopy, intraocular preure (IOP) meaurement, and ophthalmocopy. Viual field and fundu photography were obtained when poible. Reult eventeen clinically affected individual and two obligate carrier were identified. Mot (64.7%) affected peron had bilateral involvement. Viual acuity in affected eye ranged from 20/20 to no light perception. Although the appearance of affected nerve varied greatly, mot lacked a well-formed central retinal artery and intead had multiple radial cilioretinal arterie. Prominent cupping wa een in mot affected nerve. Four individual for whom information wa available were treated for glaucoma, but none had documented elevated IOP. Four eye of two patient demontrated progreive ONH cupping at normal IOP. Nine (56.3%) of the 16 individual for whom we had data had evidence of erou macular detachment; five of thee had bilateral macular dieae. Concluion A large family with autoomal dominant inheritance of cavitary ONH anomalie and abnormal vaculature i preented. Clinical phenotype varied markedly. Progreive ONH cupping wa documented in four eye of two patient. Genetic linkage analyi of thi family ha identified the chromoomal location of a gene reponible for ONH development. Thi may provide inight into the pathogenei of glaucomatou ONH damage.