Tag Archive | Dystrophies

Chapter 110 – Choroidal Dystrophies

Chapter 110 – Choroidal Dystrophies   SANDEEP GROVER GERALD A. FISHMAN           DEFINITION • Choroideremia is a progressive, diffuse, bilateral chorioretinal dystrophy with an X-linked recessive mode of inheritance. • Gyrate atrophy of the choroid and retina is a progressive, diffuse, bilateral chorioretinal dystrophy with an autosomal recessive mode of inheritance. […]

Chapter 109 – Macular Dystrophies

Chapter 109 – Macular Dystrophies   KIMBERLY DRESNER KENT W. SMALL           DEFINITION • The process of premature retinal cell aging and cell death, generally confined to the macula, in which no clear demonstrable extrinsic cause is evident, and a heritable genetically determined enzymatic defect is implicated.   KEY FEATURES • […]

Chapter 59 – Stromal Corneal Dystrophies and Ectasias

Chapter 59 – Stromal Corneal Dystrophies and Ectasias   JOEL SUGAR           DEFINITION • A disorder in which an abnormal substance accumulates in the cornea.   KEY FEATURES • Characteristically bilateral • Progressive • Isolated to the cornea   ASSOCIATED FEATURES • Usually autosomal dominant • Not associated with systemic disease […]