PMID- 31889465 OWN - NLM STAT- MEDLINE DCOM- 20200515 LR - 20200515 IS - 1744-5132 (Electronic) IS - 0927-3972 (Linking) VI - 28 IP - 1 DP - 2020 Mar TI - Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease. PG - 3-6 LID - 10.1080/09273972.2019.1707237 [doi] AB - Purposes: To establish a relation between pendular low amplitude high frequency (PLAHF) components and congenital retinal disorders.Methods: Patients who showed PLAHF components in their eye-movement recording between January 2016 to January 2019 were included. Best corrected visual acuity (BCVA), refraction, strabismus assessment, fundus photograph, spectral domain-optical coherence tomography (SD-OCT), full-field electroretinography (f-ERG), clinical ophthalmological examination, and gene tests were used to determine their clinical conditions, especially their retina conditions in all patients.Results: Among 136 patients there were 76 males and 60 females with mean age of 11.4.5 +/- 4.5 years. Pure PLAHF waveforms were found in 38 patients (28%), the amplitude of the PLAHF was 2 degrees +/-1.6 degrees and frequency was 5-10 Hz. Superimposed PLAHF waveforms were found in 98 patients (72%). BCVA was worse than Log MAR1.0 in 94 patients (69%), between LogMar 0.5-1.0 (20/63-20/200) in 30 cases (22%); higher than LogMar 0.5 (20/63) in 12 cases (9%). Fifty-eight patients were diagnosed with exotropia and six patients with esotropia. Abnormal Fundus were found in 71 cases (52%), fovea hypoplasia was identified with OCT in 95 cases (70%) and retinal thinning in 92 cases (68%). Abnormal on-off VEP were found in 116 cases (85%). The f-ERG responses were reduced in all patients. In 46 patients, gene mutations were found to related to retinal disease, including 3 congenital stationary night blindness (CSNB), 14 achromatopsia (ACHM), 5 Aland Island eye disease (AIED), 7 Alstrom syndrome (AS), 11 Leber congenital amaurosis (LCA), 6 cone-rod dystrophy (CRD).Conclusions: Patients presenting with PLAHF usually had retinal disorders. FAU - Wang, Ping AU - Wang P AD - Children's Eye Disease and Ocular Motility Institute of Purui Jina, Shandong Purui Liangkang Eye Hospital, Jinan, Shandong Province, P. R. China. FAU - Ya, Pan AU - Ya P AD - Children's Eye Disease and Ocular Motility Institute of Purui Jina, Shandong Purui Liangkang Eye Hospital, Jinan, Shandong Province, P. R. China. FAU - Li, Deshun AU - Li D AD - Children's Eye Disease and Ocular Motility Institute of Purui Jina, Shandong Purui Liangkang Eye Hospital, Jinan, Shandong Province, P. R. China. FAU - Lv, Shuangjun AU - Lv S AD - Children's Eye Disease and Ocular Motility Institute of Purui Jina, Shandong Purui Liangkang Eye Hospital, Jinan, Shandong Province, P. R. China. FAU - Yang, Dongsheng AU - Yang D AD - Children's Eye Disease and Ocular Motility Institute of Purui Jina, Shandong Purui Liangkang Eye Hospital, Jinan, Shandong Province, P. R. China. LA - eng PT - Journal Article DEP - 20191231 PL - England TA - Strabismus JT - Strabismus JID - 9310896 SB - IM MH - Adolescent MH - Adult MH - Child MH - Child, Preschool MH - Electronystagmography MH - Electroretinography MH - Female MH - Humans MH - Infant MH - Male MH - Nystagmus, Pathologic/*diagnosis/physiopathology MH - Retinal Dystrophies/*diagnosis/physiopathology MH - Tomography, Optical Coherence MH - Visual Acuity/physiology MH - Young Adult OTO - NOTNLM OT - Nystagmus OT - nystagmus waveform OT - retina disorders EDAT- 2020/01/01 06:00 MHDA- 2020/05/16 06:00 CRDT- 2020/01/01 06:00 PHST- 2020/01/01 06:00 [pubmed] PHST- 2020/05/16 06:00 [medline] PHST- 2020/01/01 06:00 [entrez] AID - 10.1080/09273972.2019.1707237 [doi] PST - ppublish SO - Strabismus. 2020 Mar;28(1):3-6. doi: 10.1080/09273972.2019.1707237. Epub 2019 Dec 31.