Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.

Purpose: Previously, patients with RHO mutations and a class A phenotype were found to have severe early-onset loss of rod function, whereas patients with a class B phenotype retained rod function at least in certain retinal regions. Here class B patients were studied at different disease stages to understand the topographic details of the phenotype in preparation for therapies of this regionalized retinopathy.

Methods: A cohort of patients with RHO mutations and class B phenotype (n = 28; ages 10-80 years) were studied with rod and cone perimetry and optical coherence tomography (OCT).

Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials.

Purpose: The purpose of this study was to develop a convenient means to measure rod (and cone) function by automated perimetry in patients with inherited retinal degenerations (IRDs).

Methods: A currently available automated perimeter was used to determine sensitivity (in decibels) to a blue target in the dark-adapted (DA) state and a white target in the light-adapted (LA) state. Normal subjects and IRD patients were evaluated with a full-threshold 71-locus strategy (the retinitis pigmentosa [RP] test) and a size III target.

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.

Background: SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail.

Materials And Methods: A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with kinetic and static chromatic perimetry, optical coherence tomography (OCT), and fundus autofluorescence (AF) imaging.