ABSTRACT
Background Retinitis pigmentosa (RP) is one of the causes of congenital blindness.It is well known that the degeneration process of rod cells is difficult to detect in RP.Retinal degeneration 12 (rd12) mice is a new,spontaneously arising mouse model for human Leber congenital amaurosis (LCA),and it is helpful for us to explore the pathogenesis and determine the treating target of RP.Objective This study was to investigate the natural disease process of short-length sensitive cone cells in rd12 mice,a LCA Rpe65rd12 (B6 [A]-Rpe65rd12/J) mouse.Methods The rd12 mice at postnatal (P) 14,P21,P35 and P90 were selected (5 mice for each),and the wild-type C57BL/6J (B6) mice with matched ages were included as controls.Photopic full-field electroretinogram (ERG) was recorded with Roland Q450SC UV visual physiology instrument.Cone response was recorded using single white light-emitting diode (LED) stimulation with the flash intensity of 1.00 cds/m2 and 1.96 cds/m2,and short wave-length sensitive cone response was recorded using ultraviolet light ([363 ±6] nm) stimulation with the flash intensity of 2.0 mWs/m2 and 3.0 mW/m2.The mice were sacrificed and retinal whole-mounts were prepared.The distribution and number of cone cells and UV-sensitive cone cells were detected by FITC-peanut agglutinin (FITC-PNA) and Cy3 immunofluorescence stainning,respectively.Results In P14 rd12 mice,the ERG responses of overall cone cells presented the negative waveform and the latency was delayed,and UV-sensitive cone response was unrecordable.The b-wave amplitude of overall cone cells reduced by 75％ in P21 rd12 mice compared with wild-type B6 mice,and the mean latency of b-wave in the P21 rd12 mice was significantly longer than that in the wild-type B6 mice ([102.80± 11.39] ms vs.[43.40± 5.60] ms) (t =-8.106,P =0.001).The mean b-wave amplitudes of U Vsensitive cone cells were (59.60± 36.00),(82.40± 12.22) and (68.43 ± 17.63) μV in the wild-type B6 mice,andthose in the rd12 mice were unrecordable.Immunofluorescence showed that a lager number of cone cells with green fluorescence were seen,and the expression of opsin with red fluorescence was displayed in the UV-sensitive cone cells of nasal lateral on retinal ventral side in P14 wild-type B6 mice;while only a few opsin positive-response cells were seen in P14,P21 and P35 rd12 mice.Conclusions In rd12 mice,the functional abnormality and quantitative reduction of cone cells appear in the early postnatal days,and the loss of UV-sensitive cone cells is earlier and more obvious.
ABSTRACT
Background Bietti crystalline dystrophy (BCD) is a congenital and autosomal recessive hereditary eye disease characterized by multiple glistening intraretinal crystals scattered over the fundus.Studies determined abnormality of fatty acid metabolism probably is associated with BCD.However,the study on the alteration of blood lipid level in BCD patients is rare.Objective This trail was to study the change of serum lipids in BCD patients.Methods A total of 50 patients with bilateral BCD and 50 matched healthy volunteers were included from November 2011 to March 2013 in Beijing Tongren Eye Center with the approval of Ethic Committee of Beijing Tongren Hospital.Written informed consent was obtained from each subject before any medial examination.Peripheral blood of 3 ml was collected from the subjects.The serum concentrations of triglyceride (TG),total cholesterol (TC),low density lipoprotein cholesterol (LDL-C) and high density lipoprotein cholesterol (HDL-C) were measured and analyzed.The examination outcome was identified based on the criteria of China Adult Dyslipidemia Prevention Guideline (Version 2007).Results Abnormality of serum lipid content was detected in 58.00％ patients (29/50),and hypertriglyceridemia and hypercholesteremia were in 34.48％ (10/29),respectively,and mixed hyperlipidaemia was in 27.59 ％ (8/29).The serum levels of TG,TC and LDL-C were (1.63± 1.19) mmol/L,(5.10±1.05) mmol/L and (3.27±0.97) mmol/L in the BCD group,which were significantly higher than (0.93± 0.33) mmol/L,(4.33 ±0.56) mmol/L,(2.63 ±0.51) mmol/L of the normal group (t =4.036,4.496,4.095,all at P=0.000).Conclusions The serum lipid levels elevate in BCD patients,which might be related to the occurrence of BCD.