Persistent cone dysfunction in acute exudative polymorphous vitelliform maculopathy.
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Acute Disease↗
Biomedical subjects
Petra Kozma
Publications and source records attributed to Petra Kozma.
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
PURPOSE: To evaluate the clinical features associated with the RP10 form of autosomal-dominant retinitis pigmentosa in 11 affected members of various ages from one family with a defined IMPDH1 mutation (Asp226Asn). DESIGN: Prospective, observational case series. METHODS: Visual function assessment included visual acuity, color vision, visual field, dark adaptometry, full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Ophthalmologic examinations, fundus photography, and optical coherence tomographic scans were also performed. Blood samples were obtained to screen for basic immune function. RESULTS: Visual acuity was slightly reduced in the teenage years and substantially reduced in association with cystoid macular edema (CME) at all ages. Color defects were observed in three patients (one teen, two adults). Dark-adapted thresholds were elevated. Visual fields were markedly constricted by age 40 (<or=20 degrees). Rod and cone a-wave and b-wave ffERG responses were small or nondetectable by age 20, with greater rod than cone loss at all ages. The normal to significantly delayed ffERG cone b-wave implicit times in different patients were explained by their mfERG implicit times from the central retina. The amplification factors (log S) and recovery kinetics derived from the full-field rod a-waves were normal. Optical coherence tomography revealed subretinal fluid accumulation in the majority of eyes. Cystoid macular edema was diagnosed in four patients. No unusual immunologic findings were noted. CONCLUSIONS: The Asp226Asn mutation is associated with a severe, early-onset form of retinal degeneration in members of this family.
Adolescent↗
Contour integration in amblyopic monkeys.
Amblyopia is characterized by losses in a variety of aspects of spatial vision, such as acuity and contrast sensitivity. Our goal was to learn whether those basic spatial deficits lead to impaired global perceptual processing in strabismic and anisometropic amblyopia. This question is unresolved by the current human psychophysical literature. We studied contour integration and contrast sensitivity in amblyopic monkeys. We found deficient contour integration in anisometropic as well as strabismic amblyopic monkeys. Some animals showed poor contour integration in the fellow eye as well as in the amblyopic eye. Orientation jitter of the elements in the contour systematically decreased contour-detection ability for control and fellow eyes, but had less effect on amblyopic eyes. The deficits were not clearly related to basic losses in contrast sensitivity and acuity for either type of amblyopia. We conclude that abnormal contour integration in amblyopes reflects disruption of mechanisms that are different from those that determine acuity and contrast sensitivity, and are likely to be central to V1.
Adaptation, Psychological↗