ABSTRACT
Peripheral retinal degeneration is a typical lesion in ophthalmic clinical practice. Each type of degeneration affects distinct retinal layers and may lead to sight-threatening complications. Due to its specific location, where current ophthalmic imaging technologies have difficulties observing, the pathogenesis remains unclear despite previous works. This review outlines the characteristics of peripheral retinal degeneration by different wide-field imaging technologies, including ultra-wide field fundus imaging, wide field spectral domain optical coherence tomography, optical coherence tomography angiography and fundus fluorescein angiography, as well as new perspectives on their pathogenesis or pathological characteristics so as to provide new ideas for clinical diagnosis and management. Due to the small size of sample and the lack of prospective and long-term observation of multimodal imaging, it is still impossible to comprehensively evaluate the progression and risk of different types of degeneration. Therefore, it is expected that wide-field multimodal imaging technology will be more widely applied to study the mechanism of peripheral retinal degeneration and guide the clinical practice options.
ABSTRACT
<p><b>BACKGROUND</b>The autosomal dominant form of retinitis pigmentosa (ADRP) can be caused by mutations in 14 genes and further loci remains to be identified. This study was intended to identify mutations in a Chinese pedigree with ADRP.</p><p><b>METHODS</b>A large Chinese family with retinitis pigmentosa was collected. The genetic analysis of the family suggested an autosomal dominant pattern. Microsatellite (STR) markers tightly linked to genes known to be responsible for ADRP were selected for linkage analysis. Exons along with adjacent splice junctions of PRPF31 were amplified by polymerase chain reaction (PCR) and screened by direct sequencing.</p><p><b>RESULTS</b>The caused gene of ADRP was mapped to 19q13.4 between markers D19S572 and D19S877, with a maximum LOD score of 3.01 at marker D19S418 (recombination fraction = 0).</p><p><b>CONCLUSION</b>The affected gene linked to the 19q13.4 in a Chinese family with ADRP, which is different from other mutations at the same loci in other Chinese families.</p>