分子与遗传医学

Retinal Dystrophy New Early Signs Detection Towards Vision Improvement: A Case Presentation

Abstract

Villanueva A, Marshall K, Chung D, Ayyagari R, Maguire AM and Bennett J

Introduction: This is a case presentation of inherited retina dystrophy type RPE65. We enhanced signs for early diagnosis in order to prevent vision loss as this condition has treatment now-a-days.
Method opted: Phenotype and genotype investigation resulted in RPE65 mutation, one sub-retinal injection was done in each eye.
Results: Vision is improved.
Discussion and conclusion: Early diagnosis is needed for LCA and retina dystrophies. This case presentation illustrated diagnosis is delayed due to the unknown early signs. Early signs are not detected by a specialist, even though for a mother is certain that vision is not normal for first month of life. There is treatment now and this may prevent loss of vision due to the degenerative nature of this condition, particularly as during first year of life treated patients manifest improved vision.