Long Anterior Len Zonule in Late-Onet Retinal Degeneration (L-ORD)

Purpoe We report new finding of peripupillary iri atrophy and long anteriorly-inerted zonule in a family with late-onet retinal degeneration (L-ORD). Deign The proband wa noted to have anterior egment finding not previouly decribed in L-ORD, an autoomal dominant condition reulting in evere viual impairment. A mutation in the C1QTNF5 (CTRP5) gene i caual. We identified family member with anterior egment finding. Method Family member were examined with lit-lamp biomicrocopy and pychophyical tet including dark adaptation and viual field. Genetic teting for the C1QTNF5 mutation wa carried out. Reult In thi family with a proven mutation in thi gene, peripupillary iri atrophy and abnormally long anterior zonular inertion were preent before retinal change and viual lo. Concluion Anterior egment finding have not previouly been reported and along with impaired dark adaptation may erve a an early marker for thi condition thu facilitating couneling and poible therapeutic intervention.