Iolmaster v 5

All patients underwent an ophthalmic examination 1 day before LDTSCP and 1 and 7 days after LDTSCP. Postoperative follow-up after phacoemulsification was performed on postoperative day (POD) 1, 7 and month 1, 3, 6, 9, 12, 15 and 18. Patients whose clinical condition required closer follow-up were evaluated more frequently as determined by the treating physician. IOP was measured by Goldmann applanation tonometry. Best corrected visual acuity was measured using a Snellen acuity chart and was converted to logarithm of the minimum angle of resolution (logMAR) for analysis. The vertical cup-to-disc ratio (VCDR) was acquired by indirect ophthalmoscopic examination. Corneal endothelial cell density was measured by non-contact specular microscopy (Tomey EM-3000 NCSM, Tomey, Nagoya, Japan) and axial length was measured by IOLMaster (V.5, Carl-Zeiss Meditec, Dublin, California, USA). All surgical complications were recorded.

Post-cycloplegic refraction data were obtained by performing autorefraction with a Nidek ARK-510A (Nidek Co., Ltd., Gamagori, Japan) after tropicamide 1% and phenylephrine 10% eye drops were administered in both eyes. Central corneal thickness (CCT) was measured by an OCULUS Pentacam (OCULUS Optikgeräte GmbH, Wetzlar, Germany). Retinal thickness was measured with optical coherence tomography (Spectralis HRA + OCT; Heidelberg Engineering, Heidelberg, Germany). Axial length was measured using an IOLMaster V.5 (Carl Zeiss Meditec AG, Jena, Germany).

The participants described above received ocular and systemic evaluations based on the diagnostic criteria for STL [27 (link)]. Refractive error was measured with an autorefractometer (Topcon KR-8000, Paramus, NJ) after mydriasis using compound tropicamide (Mydrin-P, Santen Pharmaceutical, Osaka, Japan). Axial length was measured using an optical biometer (IOL master V5.0, Carl Zeiss Meditec AG, Oberkohen, Germany). Photographs of the anterior vitreous opacity were taken with a photo slit-lamp microscope (LS-6, Chongqing, China). Fundus photographs were obtained using a digital retinal camera (CR-2 PLUS AF, Canon, Tokyo, Japan). The posterior vitreoretinal and macular regions were examined using optical coherence tomography (OCT; Topcon Corp, Oakland, NJ).
Examinations of the orofacial, auditory, and musculoskeletal systems were also performed. Pure-tone audiometry (GSI 61, GSI, Eden Prairie, MN), the air conduction threshold (0.25–8 kHz), and the angles of elbow and knee hypermobility were evaluated for all 12 probands and their 14 affected family members. X-ray examinations (Luminors Select, SIEMENS, Munich, Germany) were conducted on select individuals with complaints of discomfort in their joints or on individuals recommended for such examinations by professional physicians.

We recruited four families having high myopia (refractive error < −6.00 DS) with or without CSNB1 and 96 healthy individuals (+0.5 DS < refractive error < −0.5 DS). All individuals received a comprehensive ophthalmic examination, including vision acuity (Topcon KR-8000, Paramus, Japan), color vision, slit-lamp(SL-1E, Topcon, Japan), axial length (IOL master V5.0, Carl Zeiss Meditec AG, German), power corneal curvature, full-field ERG (ESPION-E2, Diagnosys, Littleton, MA) and fundus examination (CNAN-CR-2, Japan), by the same experienced ophthalmologists. The inclusion criteria for the participants in this study were as follows: 1) myopia occurred before school age and 2) spherical refraction < −6.00 DS. Patients having eye disorders other than nystagmus, strabismus, and night blindness or having systemic diseases were excluded. Written informed consent conforming to the tenets of the Declaration of Helsinki was obtained from each participating individual or his or her guardian before the collection of clinical data and venous blood.