视网膜大动脉瘤的临床特点及多波长氪离子激光治疗观察

目的 观察视网膜大动脉瘤(RAM)的临床特点及激光治疗效果。方法 回顾分析2015年1月~2018年12月在我院激光治疗的23例(23眼)RAM患者的临床资料。分析眼底彩照、荧光血管造影及激光治疗效果。结果 23例患者年龄33~86岁,平均(63.39±13.22)岁,<50岁4例(17.39%),>50岁19例(82.61%)。合并高血压病的患者16例(69.57%)。男性∶女性为8∶15。均为单眼发病。22例颞侧发病,其中15例为颞上方,7例为颞下方;1例鼻上方发病。22例为单发,1例为2个瘤体。视力:指数~0.6。对所有患者进行多波长氪离子激光治疗后3~6个月随访视力、眼底彩照,并复查荧光眼底血管造影,发现所有患者动脉瘤体均完全或部分萎缩、闭塞,渗出、出血逐渐吸收,视力提高18例、不变5例,无视力下降者,未出现瘤体破裂等并发症。激光治疗前后最佳矫正视力(BCVA)(LogMAR视力)分别为0.54±0.11、0.39±0.08,治疗后较治疗前有明显提高,差异有统计学意义(P<0.05)。结论 RAM好发于老年女性,绝大多数单眼发病,多数为单发病灶,临床特点明确,荧光血管造影可明确诊断并进行随访。多波长氪离子激光治疗RAM安全有效。     

Audiometric and Ophthalmological Findings in Rubella Deafness

In an attempt to study the relevance of ophthalmological changes to the diagnosis of cochlear hearing impairment due to fetal rubella infection, a survey of the literature combined with a clinical investigation was carried out. Based on the investigation of 57 patients, 31% had congenital hearing impairment due to fetal rubella infection. Of these patients, 61% had typical rubella retinal changes. In the remaining 69%, ophthalmoscopy revealed no abnormality, except in 1 patient. As the cause of the hearing impairment in this patient was unknown, it was concluded that the mother had suffered from subclinical rubella infection in the first trimester of her pregnancy.

It is concluded that rubella retinitis is found with such a high incidence in rubella children that it can be used as a tool in the diagnosis of cochlear hearing impairment due to fetal rubella infection. Patients with congenital hearing impairment ought to undergo a routine ophthalmoscopy which will detect eventual pigmentary changes.     

Application of Morphological Bit Planes in Retinal Blood Vessel Extraction

The appearance of the retinal blood vessels is an important diagnostic indicator of various clinical disorders of the eye and the body. Retinal blood vessels have been shown to provide evidence in terms of change in diameter, branching angles, or tortuosity, as a result of ophthalmic disease. This paper reports the development for an automated method for segmentation of blood vessels in retinal images. A unique combination of methods for retinal blood vessel skeleton detection and multidirectional morphological bit plane slicing is presented to extract the blood vessels from the color retinal images. The skeleton of main vessels is extracted by the application of directional differential operators and then evaluation of combination of derivative signs and average derivative values. Mathematical morphology has been materialized as a proficient technique for quantifying the retinal vasculature in ocular fundus images. A multidirectional top-hat operator with rotating structuring elements is used to emphasize the vessels in a particular direction, and information is extracted using bit plane slicing. An iterative region growing method is applied to integrate the main skeleton and the images resulting from bit plane slicing of vessel direction-dependent morphological filters. The approach is tested on two publicly available databases DRIVE and STARE. Average accuracy achieved by the proposed method is 0.9423 for both the databases with significant values of sensitivity and specificity also; the algorithm outperforms the second human observer in terms of precision of segmented vessel tree.     

Fluorescence lifetime imaging ophthalmoscopy

Imaging techniques based on retinal autofluorescence have found broad applications in ophthalmology because they are extremely sensitive and noninvasive. Conventional fundus autofluorescence imaging measures fluorescence intensity of endogenous retinal fluorophores. It mainly derives its signal from lipofuscin at the level of the retinal pigment epithelium. Fundus autofluorescence, however, can not only be characterized by the spatial distribution of the fluorescence intensity or emission spectrum, but also by a characteristic fluorescence lifetime function. The fluorescence lifetime is the average amount of time a fluorophore remains in the excited state following excitation. Fluorescence lifetime imaging ophthalmoscopy (FLIO) is an emerging imaging modality for in vivo measurement of lifetimes of endogenous retinal fluorophores. Recent reports in this field have contributed to our understanding of the pathophysiology of various macular and retinal diseases.Within this review, the basic concept of fluorescence lifetime imaging is provided. It includes technical background information and correlation with in vitro measurements of individual retinal metabolites. In a second part, clinical applications of fluorescence lifetime imaging and fluorescence lifetime features of selected retinal diseases such as Stargardt disease, age-related macular degeneration, choroideremia, central serous chorioretinopathy, macular holes, diabetic retinopathy, and retinal artery occlusion are discussed. Potential areas of use for fluorescence lifetime imaging ophthalmoscopy will be outlined at the end of this review.     

Stargardt disease-associated mutation spectrum of a Russian Federation cohort

ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients from 10 ethnic groups. We found ABCA4 variations in 70.5% cases and one case with BEST1 variation. Multiple ABCA4 variations, ABCA4 + RDH12, and ABCA4 + BEST1 variations are also observed and the disease severity is found proportionate to the variation burden. Ten novel ABCA4 variations are detected of which 8 belongs to non-Slavonian population. Most of the detected known variations are found in European and American Stargardt disease populations. No retinopathy causing variation is detected in 14 (27%) cases suggesting that in this Russian retinopathies cohort the causal variants could be in genes that are not covered by our 325 gene panel. Therefore, whole genome/exome analysis is required to identify novel retinopathy associated genes and provide better disease management for this heterogeneous cohort.     

Boucher Neuhäuser Syndrome – A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6

Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations.The cases, which presented with ataxia in childhood and hypogonadotropic hypogonadism (HH), were diagnosed at age 17 and 25, respectively, when examined for delayed puberty. The youngest case, a 55-year old male, was referred to our department in 2006 for evaluation of secondary causes of osteoporosis, which he developed despite adequate testosterone replacement therapy. The unusual medical history with childhood ataxia and hypogonadotropic hypogonadism lead to further examinations and eventually the diagnosis of BNS. The older sister of the proband also displayed the triad of ataxia, HH and chorioretinal dystrophy accompanied by cerebellar atrophy and in 2014, we found the mutations in PNPLA6.BNS is a rare cause of HH and secondary osteoporosis, but should be considered in patients presenting with one or more of the key features. Genetic screening is becoming increasingly available and inexpensive and accordingly this may be considered earlier and by broader indication in unusual phenotypic presentations. The increasing knowledge of causes for inherited diseases should extend the use of genetic screening, as the correct diagnosis will benefit the patients.     

A retinal vessel boundary tracking method based on Bayesian theory and multi-scale line detection

A retinal vessel tracking method based on Bayesian theory and multi-scale line detection is proposed in this paper. The optic disk is located by a PCA method and the initial points of tracking are identified. In each step, candidate points for vessel edges are selected on a semi-ellipse. Three types of vessel structure are considered in the tracking: normal vessel, branching, and crossing. To determine the new pair of edge points, the characteristics of the vessel intensity profiles along both the cross section and the longitudinal direction are considered in the tracking. A Gaussian model is assumed in the cross section and multi-scale line detection is employed in the longitudinal direction. The advantage of the proposed method is that two dimensional vessel information is employed, which makes it work better than methods using one dimensional information only. Our method is tested on the REVIEW database and a comparison study is performed. Experimental results show that the proposed method is precise and robust in tracking vessel edges.     

A case of adult-onset Still’s disease complicated by thrombotic thrombocytopenic purpura with retinal microangiopathy and rapidly fatal cerebral edema

We present a patient who had adult-onset Still’s disease (AOSD) complicated by thrombotic thrombocytopenic purpura (TTP) that resulted in retinal microangiopathy and rapidly fatal cerebral edema. The patient was a 37-year-old male who developed fever, eruption, arthritis and hepatic dysfunction, that, based on close examination, was diagnosed as AOSD. Despite treatment with corticosteroids, the patient developed acute visual field defect, neurological deterioration including convulsions and impaired consciousness, as well as acute renal failure that ultimately resulted in death. Pathological examination of autopsy specimens revealed multiple fibrin thrombi disseminated in small vessels of the brain and kidney, which was consistent with TTP, along with marked cerebral edema. Although TTP has rarely been reported in association with AOSD, awareness of the possible coexistence of these two diseases is important for diagnosis and treatment.