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The neural crest represents a dynamic population of embryonic stem cells, playing a pivotal role in the development of the eye. Through interactions with the surrounding neuroectoderm, superficial ectoderm and mesoderm, the neural crest contributes to the formation of numerous ocular structures, encompassing the corneal stroma and endothelium, trabecular meshwork, iris stroma, ciliary muscle, vitreous and choroidal vessels, and Müller cells. Aberrant migration and development of neural crest cells within the eye can instigate a complex series of ocular diseases. Such diseases include anterior segment like Axenfeld-Rieger syndrome, Peters anomaly, aniridia, primary congenital glaucoma, and Nail-Patella syndrome. Defects that impact the posterior segment may lead to CHARGE syndrome and Branchio-oculo-facial syndrome. Further, rare neurocristopathies such as Waardenburg syndrome, Treacher-Collins syndrome, and Char syndrome can also present with ocular abnormalities. In this review, we explore the ocular diseases that arise from abnormal neural crest cell development, and delve into the related genes involved in neural crest migration and development. We further discuss how mutations and defects in these genes can precipitate ocular diseases.
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Background The progenesis and development of dry eye is closely associated with the stability of tear-film.Dry eyes often show the visual disturbance.Therefore,to evaluate the stability of tear-film based on visual quality and explore the relevant dynamic vision change in dry eyes is of important significance.Objective The aim of this study was to evaluate the dynamic changes of objective scattering index (OSI),modulation transfer function cut off (MTF cut off),objective visual acuity (OVA) with tear-film in the patients with mild or moderate dry eye disease using Optical Quality Analysis System.Methods A clinical diagnosis test was performed.Forty-two eyes of 42 consecutive patients with mild or moderate dry eyes were included in Tianjin Eye Hospital from December 2013 to May 2014 based on ‘ The Clinical Diagnosis and Treatment Recommendations for Dry Eye from Consensus of Expert Advice in 2013’,and 29 normal eyes of age-and gender-matched 29 healthy volunteers were simultaneously included as the healthy control group.The dynamic retinal images under non-blinking condition during 15 seconds were recorded by OQAS-Ⅱ system,and the OSI,MTF cut off and OVA values at 0,5,10 and 15 seconds were obtained,and the differences of OSI,MTF cut off and OVA between 0 second and 15 seconds were calculated (△OSI,△MTF cut off,△OVA).The dynamic changes of △OSI,△MTF cut off and △OVA with time were evaluated.The sensitivity and specificity of △OSI,△MTF cut off and △OVA for the differential diagnosis of dry eyes were analyzed by receiver operating characteristic curve (ROC curve).Results The OSI values at 5,10 and 15 seconds in the mild or moderate dry eye group were significantly higher than those at 0 second or those in the healthy control group (all at P＜0.05),and the MTF cut off values and OVA values at 5,10 and 15 seconds in the mild or moderate dry eye group were significantly lower than those at 0 second or those in the healthy control group (all at P＜0.05).The △OSI,△MTF cut off and △OVA values were 1.03±1.53,(-8.37±9.64)c/d and-0.30±0.32 in the mild or moderate dry eye group,which were significantly higher than 0.06± 0.16,(-0.37 ± 5.27) c/d and-0.03 ± 0.18 in the healthy control group (t=4.10,-5.19,-5.28,all at P＜0.05).The area under ROC curve was 0.90,0.79 and 0.78 in △OSI,△MTF cut off and △OVA,respectively.The sensitivity and specificity of △OSI was 78.6％ and 93.1％ respectively at the diagnostic cut off of 0.3.Conclusions The optical quality parameters related with tear-film stability are gradually reduced with extending of time in mild or moderate dry eyes,but they are stable in healthy eyes.The detecting outcomes by OQAS-Ⅱ system can reflect the dynamic status of tear-film,and this method is of important clinical value for the differential diagnosis and optical quality evaluation in dry eyes.
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Background High order aberrations and scattered light may be the main influencing factors of visual quality after phacoemulsification combined the aspherical IOL implantation.However,the study on objectively assessing the impact of them is little.Objective This study was to assess the impact of high order aberrations and scattered light on visual quality after phacoemulsification combined the aspherical IOL implantation.Methods A series cases-observational study was performed.Sixty-seven eyes of 53 patients who finished phacoemulsification and aspherical IOL implantation for at least 3 months in Tianjin Eye Hospital from February to August 2014 were enrolled.The root mean square (RMS) of total aberrations and high order aberrations was measured under the 4 mm pupil diameter with i-Trace aberrometer,including general high order aberrations,spherical aberrations,coma,and trefoil of entire eye,cornea and internal optics.The correlations between ocular aberrations and corneal or internal optic aberrations were analyzed.Objective scatter index (OSI) and objective visual quality parameters were measured,including MTF cut off frequency (MTF cut off),strehl ratio (SR) and OQAS values (100％ OV,20％ OV,9％ OV) with OQAS Ⅱ,and the correlations between the objective visual quality parameters and OSI,ocular aberrations,corneal aberrations or internal optic aberrations were analyzed.In addition,the correlations between OSI and ocular,corneal or internal optic aberrations were evaluated.Writen informed censent was obtained from each patient before entering the study.Results Ocular aberrations were significantly positively correlated with corneal or internal optic aberrations (r=0.255-0.586,all at P＜0.05;r=0.582-0.907,all at P＜0.01),and the associations between internal optic and ocular aberrations was stronger than those between corneal and ocular aberrations.The objective visual quality parameters were negatively correlated with ocular,corneal and internal optic aberrations (r=-0.247--0.675,all at P＜0.05;r =-0.245--0.497,all at P＜0.05;r =-0.246--0.513,all at P＜0.05) as well as with OSI (r =-0.620--0.781,all at P＜0.01).Most of the associations between internal optic aberrations and objective visual quality parameters were stronger than those of corneal aberrations.Furthermore,ocular,corneal and optical aberrations were all positively correlated with OSI (r =0.396-0.727,all at P＜0.01;r =0.320-0.522,all at P＜0.05;r =0.319-0.598,all at P＜0.01).Conclusions High order aberrations and scattered light seem to interact with objective visual quality in aspherical IOL implanted eyes,and the correlation between internal optic aberrations and ocular aberrations tends to be stronger than that of corneal aberrations.