Phenotypic Characterization of a Large Family With RP10 Autoomal-Dominant Retiniti Pigmentoa: An Ap226An Mutation in the IMPDH1 Gene

Purpoe To evaluate the clinical feature aociated with the RP10 form of autoomal-dominant retiniti pigmentoa in 11 affected member of variou age from one family with a defined IMPDH1 mutation (Ap226An). Deign Propective, obervational cae erie. Method Viual function aement included viual acuity, color viion, viual field, dark adaptometry, full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Ophthalmologic examination, fundu photography, and optical coherence tomographic can were alo performed. Blood ample were obtained to creen for baic immune function. Reult Viual acuity wa lightly reduced in the teenage year and ubtantially reduced in aociation with cytoid macular edema (CME) at all age. Color defect were oberved in three patient (one teen, two adult). Dark-adapted threhold were elevated. Viual field were markedly contricted by age 40 (≤20 degree). Rod and cone a-wave and b-wave ffERG repone were mall or nondetectable by age 20, with greater rod than cone lo at all age. The normal to ignificantly delayed ffERG cone b-wave implicit time in different patient were explained by their mfERG implicit time from the central retina. The amplification factor (log ) and recovery kinetic derived from the full-field rod a-wave were normal. Optical coherence tomography revealed ubretinal fluid accumulation in the majority of eye. Cytoid macular edema wa diagnoed in four patient. No unuual immunologic finding were noted. Concluion The Ap226An mutation i aociated with a evere, early-onet form of retinal degeneration in member of thi family.