Objective To observe the efficacy of intravitreal injection of ranibizumab (IVR) for different patterns of optical coherence tomography (OCT) of diabetic macular edema and the relationship between integrity of ellipsoidal zone and visual acuity outcomes. Methods Eighty-five IVR treated eyes were enrolled. The examination of BCVA was according to Early Treatment Diabetic Retinopathy Study, and the results were recorded as logarithm of the minimum angle of resolution (logMAR). Frequency-domain OCT was used to measure the central foveal thickness (CFT) and the integrity of ellipsoidal zone. All eyes were classified as diffuse macular edema (DRT group, 31 eyes), cystoid macular edema (CME group, 29 eyes), and serous retinal detachment (SRD group, 25 eyes). All the patients were treated with intravitreal injection of 0.05 ml (0.5 mg) ranibizumab. The mean follow-up time was (9.21+3.56) months after IVR treatment. The changes of BCVA and CFT in 3 groups were compared and analyzed after 3, 6 and 12 months. According to visual acuity at different ranges, the relationship between integrity of ellipsoidal zone and BCVA was analyzed. Results Compared with the average logMAR BCVA before treatment, except for 12 months after treatment in group SRD (t=2.104,P=0.053), the average logMAR BCVA after IVR at 3 months, 6 months and 12 months improved in DRT group (t=7.847, 6.771, 6.426;P=0.000, 0.000, 0.000), CME group (t=8.560, 6.680, 5.082;P=0.000, 0.000, 0.000) and SRD group (t=5.161, 3.968, 2.104;P=0.000, 0.001, 0.053). The average logMAR BCVA of the DRT group was lesser than that in CME and SRD group after 12 months treatment (t=–2.043, –3.434;P=0.030, 0.001). The average CFT after IVR at 3 months, 6 months and 12 months reduced significantly in DRT group (t=12.746, 10.687, 9.425;P=0.000, 0.000, 0.000), CME group (t=13.400, 11.460, 10.169;P=0.000, 0.000, 0.000), and SRD group (t=11.755, 10.100, 9.173;P=0.000, 0.000, 0.000). After 12 months of treatment, the average CFT of the SRD group was thicker than that in DRT group and CME group (t=–3.251, –1.227;P=0.003, 0.025); there was significant difference in the integrity of ellipsoidal zone among 3 groups (χ2=1.267,P=0.531). The results showed that there were significant differences in the integrity of ellipsoidal zone with different ranges of BCVA before and after 12 months treatment (χ2=20.145, 41.035;P=0.000, 0.000). Conclusions IVR could significantly improve the visual acuity of different patterns of DME, reduced the CFT, and had the best efficacy in the DRT group. There was relationship between the integrity of ellipsoidal zone and the visual acuity outcomes.
Objective To observe the clinical phenotype of patients with CACNA1F gene variant. MethodsFrom January 1, 2022 to October 1, 2023, patients with CACNA1F gene mutation-related eye diseases diagnosed by clinical examination and genetic testing in Changsha Aier Eye Hospital were included in the study. All patients underwent best-corrected visual acuity (BCVA), medical optometry, fundus color photography, optical coherence tomography, full-field electroretinography (ERG), nystagmus examination, and genetic whole-exon sequencing. BCVA was performed using log visual acuity charts and converted to (logMAR). The nystagmus examination was performed using a helmet-mounted multifunctional video eye movement recording system. ResultsThere were 36 patients included in the study. All were male, aged was (6.69±5.26) years. There were 26 cases of myopia (72.22%, 26/36), and the spherical equivalent was (-3.01±4.84) D. There were 34 different genetic variants including 7 cases of pathogenic variants, 20 cases of suspected pathogenic variants and 9 cases of unknown pathogenic variants, respectively. logMAR BCVA was 0.67±0.27; 26 patients had optic nerve atrophy (72.22%, 26/36); 6 had optical nerve hypoplasia (16.67%, 6/36). Fundus pigment dysplasia with mild iris transillumination was found in 4 cases (11.11%, 4/36). There were 5 cases of foveal dysplasia (Thomas grade) 1 (13.89%, 5/36). In full-field ERG examination, the B-wave reduction of the maximum mixed reaction of dark adaptation showed a negative waveform, and the amplitude of the shock potential was seriously reduced. The main phenotypes were residual type (residual dark adaptation 0.01 reaction wave and bright adaptation 3.0 reaction wave, and the response decreased at 30 Hz to a double-peak wide wave), dominant type of bright adaptation decreased (all light adaptation extinguished, all dark adaptation extinguished), and total extinction type (all light adaptation extinguished). Among them, 10 cases presented with residual ERG (27.78%, 10/36), 8 cases with photopic reduced ERG (22.22%, 8/36) and 18 with extinguished ERG (50.00%, 18/36). Low amplitude and high frequency pendulum (PLAHF) nystagmus waverforms were found in 32 cases (88.89%, 32/36), head oscillation in 27 cases (75.00%, 27/36) and chin up abnormal head posture in 26 cases (72.22%, 26/36), respectively. ConclusionsCACNA1F Gene variant eye diseases had diverse clinical phenotype. Clinical phenotype of PLAHF nystagmus is closely related with CACNA1F gene variant eye disease.
Objective To observe the characteristics of the full-field flash electroretinogram (F-ERG) in rats with oxygen induced retinopathy (OIR). Methods Twenty-four neonatal Sprague Dawley rats were divided into OIR group and control group. In OIR group, 12 rats were exposed to (75±2)% oxygen for 7 days and then to room air for 7 days; in control group, 12 rats were raised in room air for 14 days. At postnatal day 21, F-ERG tests were performed to examine the rod response , the maximum mixing reaction and the cone reaction. Results Compared with the control group, the b-wave amplitudes decreased (t=3.650) and the implicit times increased (t=2.410) in rod response in OIR group, the differences were statistically significant (P＜0.05); the a- and b-wave amplitudes decreased (t=3.333, 2.562) and the implicit times increased (t=2.725, 2.482) in the maximum mixing reaction in OIR group, the differences were statistically significant (P＜0.05). There was no difference between OIR and control group on a- and b-wave amplitudes (t=0.650, 0.204) and implicit times (t=0.422, 0.076) in cone response (P＞0.05). 0.001 cd.s/m2 light intensity stimulation on rats F-ERG wave almost no response. 0.010 cd.s/m2 light intensity stimulation on rats can be recorded to the rod response waveform, with the increase of light intensity, the amplitude of b-wave increases, the a-wave extraction. Conclusions F-ERG of OIR rat showed that the amplitude and sensitivity of the rod response and maximal rod-cone response was decreased. The intensity of light had effect on the OIR rod cells, and the amplitude of b- wave increased with the increase of light intensity, the a-wave extraction.