永存原始玻璃体增生症与先天性纤维血管瞳孔膜临床特征的比较

目的：分析永存原始玻璃体增生症(PHPV)和先天性纤维血管瞳孔膜(CFPM)的临床特征异同。

方法：回顾性分析2006-03/2021-12在空军军医大学西京医院眼科接受手术治疗的PHPV(PHPV组)和CFPM患儿(CFPM组)的眼部生物测量参数、临床表现、病变的形态学特点。

结果：纳入PHPV患儿56例61眼,CFPM患儿24例25眼; PHPV和CFPM的发病年龄相似、无性别差异,均以单眼患病为主,其占比分别为91%和96%。PHPV合并白内障患眼可有多种并发症和眼发育异常,CFPM主要为不同程度的瞳孔区堵塞及形态异常。PHPV组和CFPM组单眼患病患儿患眼前房深度(ACD)均小于对侧眼,手术年龄≤24月龄患儿患眼眼轴长度(AL)均小于对侧眼(P<0.05); PHPV组单眼患病患儿患眼角膜直径(CD)小于对侧眼、眼压高于对侧眼(均P<0.05); CFPM组单眼患病患儿患眼与对侧眼CD、IOP比较均无显著差异(P>0.05)。PHPV组患儿患眼ACD小于CFPM组患眼(P<0.05)。术中发现PHPV纤维血管膜组织位于晶状体后、玻璃体腔内,而CFPM纤维血管膜位于虹膜与晶状体前囊膜之间,很少累及晶状体。

结论：PHPV和CFPM有非常相似的临床特点,提示PHPV和CFPM可能是永存胚胎血管(PFV)的不同表现形式,但PHPV病变范围更广、病情更复杂。     

Morphologic and clinical features of retrocorneal melanin pigmentation and pigmented pupillary membranes: Review of 225 cases

Observations based on clinical and histopathologic data from 200 consecutive cases of retrocorneal pigmentation by melanin-containing cells (RCP) and 25 cases of pigmented pupillary membranes (PPM) are reported. RCP was observed to be formed by four cell types, either alone or in combinations. The characteristic morphologic appearance of each cell type is described, and the significance and the predisposing factors for the various forms of RCP are outlined. RCP from endothelial-cell pigment phagocytosis, and in cases of resulting pigmented macrophages, was found to be a rather nonspecific reaction to release of pigment granules of iris pigment epithelium after surgical trauma, inflammation, and with the pigment dispersion syndrome. RCP from iris pigment epithelium was especially associated with anterior segment trauma with iris incarceration and peripheral anterior iris synechiae. This form was the least frequent. Most frequent in this series was RCP from iris stromal melanocytes. This seemed to be stimulated by surgical or accidental trauma and by corneal inflammation. Iris melanocytization of the anterior chamber angle and posterior corneal surface appeared to be related to the formation of retrocorneal fibrous tissue, the presence of anterior synechiae, and the development of secondary open-angle glaucoma. PPM are formed mostly by a combination of the pigmented cells of the iris. The predisposing conditions for formation of PPM were the same as for RCP. However, no correlation of implicated cell types and predisposing factors was detected. With these findings the importance of iris tissue, especially iris stromal melanocytes, in these basic reactions to anterior segment trauma or corneal inflammation is discussed.     

Dominant optic atrophy: correlation between clinical and molecular genetic studies

PURPOSE: To assess the clinical picture and molecular genetics of 14 Finnish families with dominant optic atrophy (DOA). METHODS: The clinical status of family members was based on the assessment of visual acuity, colour vision, visual fields and optic nerve appearance; 31 individuals were affected, two suspect and 21 unaffected. A total of 30 coding exons and exon- intron boundaries of the OPA1 gene were sequenced in order to detect mutations. RESULTS: Half the patients were diagnosed at the age of < or = 20 years. Ten out of 20 affected individuals followed up for > or = 6 years had a progressive disease and 10 had a stable disease. According to WHO criteria, 36% of the affected patients were visually handicapped. Eight OPA1 pathogenic mutations, all but one novel, and 18 neutral polymorphisms were detected. CONCLUSION: The most sensitive indicators of DOA were optic disc pallor and dyschromatopsia. With molecular genetic analysis, asymptomatic mutation carriers and DOA cases with a mild clinical outcome were ascertained. No mutational hotspot or Finnish major mutation in the OPA1 gene could be demonstrated as most families carried a unique mutation. No obvious genotype- phenotype correlation could be detected. Detailed clinical assessment and exclusion of non-DOA families prior to mutation screening are necessary for obtaining a high mutation detection rate.     

Novel grading system for pupillary ruff changes and associated features

Background: To evaluate the reproducibility of a new system for grading pupil ruff changes and associated findings. Design: Observational comparative study. Participants: Forty‐seven photograph sets including iris, pupil edge and ruff, and inferior anterior chamber drainage angle. Methods: A novel system for recording pupillary ruff changes was developed, along with reference iris, pupil and gonioscopy images. A prospective masked agreement study was undertaken using two observers who graded the photograph sets using this new system. Parameters included pupillary ruff absence and abnormality, pupil edge pigment, trabecular meshwork pigment, Sampaolesi line pigment, iris root pigment, and pigment ‘lumps’ and ‘piles’. Main Outcome Measures: Intraobserver and interobserver agreement for the parameters of the grading system, assessed with the intraclass correlation coefficient and Bland–Altman plots. Results: Photographs of 47 eyes of 47 glaucoma suspects and glaucoma patients were evaluated. Agreement percentages of ≥95% (average 96%) and ≥60% (average 70%) were obtained for intraobserver and interobserver agreement, respectively. The average interobserver single‐measure intraclass correlation coefficient and repeat‐measures intraclass correlation coefficient were 0.75 (range 0.54–0.88) and 0.85 (range 0.70–0.94), respectively. There was a non‐significant trend towards interobserver systematic bias on one of the nine parameters (iris stroma pigment at the pupil edge). Conclusion: This grading system provides a reliable and reproducible system for encoding of clinical signs of pupil ruff atrophy for clinical research.     

The clinical features of albinism and their correlation with visual evoked potentials

AIM: To investigate the relation between the clinical and electrophysiological abnormalities of patients undergoing visual evoked potential investigation for albinism. METHODS: 40 subjects with a probable or possible clinical diagnosis of albinism underwent pattern appearance and/or flash visual evoked potential (VEP) examination. The VEP findings are correlated with the clinical features of albinism determined by clinical examination and orthoptic assessment. RESULTS: The majority of patients with clinical evidence of albinism showed a contralateral predominance in the VEPs. There was close correlation between the clinical signs of albinism and the degree of contralateral VEP predominance. This manifested as an interhemispheric latency asymmetry to monocular pattern appearance stimulation but amplitude asymmetry to flash stimulation. The strongest correlation for pattern appearance interhemispheric latency difference was with foveal hypoplasia (rho = 0.58; p = 0.0003) followed by nystagmus (rho = 0.48; p = 0.0027) and iris transillumination (rho = 0.33; p = 0.039). The VEP abnormalities were of greater magnitude in those patients with most features of albinism. Several patients with apparently mild disorders of ocular pigmentation had small but significantly abnormal VEP latency asymmetries. CONCLUSION: There is a strong association between the magnitude of the interhemispheric latency asymmetry of the pattern appearance VEP, and of amplitude asymmetry of the flash VEP, with the clinical signs of albinism. The data are consistent with a spectrum of abnormalities in albinism involving both clinical expression and electrophysiological misrouting, which is wider than previously recognised.     

The relationship between pupillary baseline manipulated by mental effort or luminance and subsequent pupillary responses

Measuring pupillary response is a prevalent technique to evaluate mental states. It is indispensable to conduct a correction procedure for the pupillary baseline to get a meaningful conclusion from the pupillary response. However, the relationship between pupillary baseline and subsequent stimulus-evoked pupillary response varies among studies. In this study, we used the subtractive and proportional baseline corrections to analyze the results. Furthermore, we manipulated the pupillary baseline through mental effort or luminance in the baseline period and investigated whether the subsequent stimulus-evoked pupillary responses were affected. We found that the mental effort–evoked pupillary response was attenuated with a larger pupillary baseline manipulated by a higher mental effort, whereas it was unaffected with the baseline manipulated by luminance. Also, the luminance-evoked pupillary response was attenuated with a smaller pupillary baseline manipulated by a brighter disk, whereas it was unaffected with the baseline manipulated by mental effort. The results could be obtained from subtractive and proportional baseline corrections. Our results suggest that mental effort manipulated pupillary baseline interacts with the subsequent mental effort elicited pupillary response, but not with the luminance elicited pupillary response; the luminance manipulated pupillary baseline interacts with the subsequent luminance elicited pupillary response, but not with the mental effort elicited pupillary response. It is important to consider the ways of controlling the pupillary baseline and subsequent pupillary response simultaneously.     

Blepharoptosis in thyroid eye disease: etiopathogenesis,clinical features and correlation with thyroid eye disease

International Ophthalmology - To report the etiopathogenesis and clinical features of blepharoptosis in patients with thyroid eye disease. A 10-year retrospective interventional study. The...     

端粒酶与视网膜母细胞瘤组织病理学特征相关性的初步研究

目的　探讨端粒酶基因 (hTR)和端粒酶催化亚单位基因 (hTRT)在视网膜母细胞瘤 (RB)组织标本中的表达 ,研究端粒酶与RB增殖和分化的关系。方法　应用原位杂交方法检测hTR、hTRT在 37例RB和 2例正常组织标本中的表达 ;并对标本中的增殖细胞核抗原 (PCNA)进行免疫组化染色 ,经过量化 ,作为肿瘤的增殖指数 ;应用SPSS统计软件对各指标进行相关性分析。结果　RB标本中hTR和hTRT的阳性表达分别为 83 8%、89 2 % ,2例正常视网膜组织内的表达均为阴性。hTR、hTRT的表达水平与RB不同的增殖、分化程度的统计学差异均有显著意义 (均P <0 0 5 ) ,RB侵犯视神经情况越严重、分化程度越差 ,hTR、hTRT的表达越强。此外 ,RB的端粒酶hTR、hTRT指标间有一定相关性。结论　RB中端粒酶基因hTR和催化亚单位基因hTRT的高表达可作为判断RB恶性及其程度的新型标记物。hTR、hTRT与RB分化类型、视神经侵犯情况密切相关 ,为端粒酶表达水平反映RB分化程度和增殖能力提供理论依据。端粒酶在RB中的存在为开辟新型临床治疗方法 ,即通过抑制RB细胞端粒酶活性达到治疗目的提供了新思路。     

The musculature and pupillary response of the Great Horned Owl iris

There is considerable confusion in the literature regarding the nature of the musculature of the avian iris. The most commonly held view is that both the sphincter and dilator are striated. The iris of the Great Horned Owl (Bubo virginianus) has a complex iridial musculature consisting of three circumferential components (a myoepithelium, smooth muscle and striated muscle) and two radial components (a well-developed myoepithelium and a few striated fibers). On the basis of the anatomy and relative development of these components, and a quantitative analysis of the pupillary reflex, it is proposed that the circumferential striated muscle is the primary pupillary constrictor and radial myoepithelium is the primary dilator. The annular band of smooth muscle may play an important role in maintaining pupillary size.     

Exfoliation syndrome: clinical and genetic features

We have ascertained a large number of individuals and families with exfoliation syndrome in order to clarify the disorder's mode of inheritance. Patients with exfoliation syndrome and their relatives were recruited from the practices of a group of ophthalmologists in Maritime Canada. The degree to which the subjects were affected was graded according to a standardized 1-4-point clinical scheme. Pedigrees were constructed from information supplied by family members and from genealogical sources. A total of 782 patients and relatives participated, of whom 467 were definitely affected. The mean age of affected males and females did not differ significantly, but females appeared to be more severely affected at ascertainment than males. More than half of the affected subjects had definite exfoliation in only one eye. Approximately 30 multiplex families were discovered, including one containing 23 affected members among a total of 137 examined individuals that constitutes the largest exfoliative pedigree thus far described. We observed well-documented paternal transmission of the trait, a finding that has not to our knowledge been previously reported. Clustering of cases in the families provides evidence for the involvement of genetic factors. The possibility of homozygosity is suggested in a few patients by the earlier or more frequent presentation of the disorder in the offspring of two affected parents or consanguineous pairings. Although a multifactorial mode of inheritance cannot be excluded, exfoliation syndrome appears to be inherited as an autosomal dominant trait whose late onset and incomplete penetrance poses a significant but not insuperable obstacle to pedigree construction.     

Diabetic optic neuropathies: clinical features

Optic disc neovascularization, anterior and posterior ischemic optic neuropathy (AION and PION), diabetic papillopathy and Wolfram's syndrome are known conditions affecting the optic nerve in diabetics. Analysis of frequencies of AION in diabetes and two cases with and without background diabetic retinopathy are reported. The literature concerning the pathogenesis of diabetic papillopathy and its clinical similarity to optic disc vasculitis are briefly discussed.