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Biomedical subjects

Anita Blankenagel

Publications and source records attributed to Anita Blankenagel.

2 recordsLinked to original sources

Testing night vision goggles in a dark outside environment.

BACKGROUND: People with degenerative retinal diseases such as retinitis pigmentosa, may have adequate day vision but suffer from poor night vision. We have tested newly developed night vision goggles (NVG) to help these patients overcome their night blindness, thereby promoting more opportunities for normal activities at night or in the dark. METHODS: A total of 42 subjects with night blindness due to retinitis pigmentosa, choroideremia, cone rod dystrophy, or Bardet Biedl syndrome were recruited and clinically examined (visual acuity, visual field, and contrast sensitivity). Using an experienced mobility trainer, we tested binocular NVG on the subjects in two locations: a dark room and a 1 to 2 h outside course at night that provided different levels of difficulties (i.e., obstacles, brightness, and contrast). The assessment of which patients benefited from the NVG was predominantly based on the subjective evaluation of the mobility trainer, followed by their graded responses on two questionnaires. RESULTS: Based on the evaluation of the mobility trainer, 23 (61%) of the 42 subjects experienced improved mobility and orientation with the NVG outdoors, and 19 (39%) subjects did not. The ophthalmic data demonstrated that a visual acuity better than 20/100 and a visual field > 5 degrees (Goldmann perimetry III4) is necessary to benefit from NVG usage. In addition, subjective responses on increased mobility and independence were positively correlated with successful NVG testing. CONCLUSIONS: Night vision goggles have the ability to improve poor night vision in subjects with visual acuity > 20/100 and a visual field > or = 5 degrees (Goldmann: III4). In so doing, NVG can help overcome the obstacles experienced by many people suffering from night blindness. NVG, therefore, have the potential to greatly improve quality of life.

Adolescent↗

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

PURPOSE: To describe the phenotype of 12 patients with autosomal recessive or isolated cone-rod types of progressive retinal degeneration (CRD) caused by mutations in the ABCA4 gene. METHODS: The charts of patients who had originally received a diagnosis of isolated or autosomal recessive CRD were reviewed after molecular analysis revealed mutations in the ABCA4 gene. RESULTS: In two of the patients both the photopic and scotopic electroretinogram were nonrecordable. In the remainder, the photopic cone b-wave amplitudes appeared to be more seriously affected than the scotopic rod b-wave amplitudes. Although the clinical presentation was heterogeneous, all patients experienced visual loss early in life, impaired color vision, and a central scotoma. Fundoscopy revealed evidence of early-onset maculopathy, sometimes accompanied by involvement of the retinal periphery in the later stages of the disease. CONCLUSIONS: Mutations in the ABCA4 gene are the pathologic cause of the CRD-like dystrophy in these patients, and the resultant clinical pictures are complex and heterogeneous. Given this wide clinical spectrum of CRD-like phenotypes associated with ABCA4 mutations, detailed clinical subclassifications are difficult and may not be very useful.

ATP-Binding Cassette Transporters↗