Retinal Cysts Research Articles

Analysis of changes of ultrasonic image and hemodynamics of retrobulbar blood vessels in Coats disease

To analyze the changes of color Doppler flow imaging (CDFI) and hemodynamics of retrobulbar blood vessels in Coats disease. It was a prospective and self-comparative study in which 18 cases (18 eyes) were included. Axial eye length was measured with A scan. Routine CDFI was performed in all cases. We examined ophthalmic arteries (OA), central retinal arteries (CRA) and posterior ciliary arteries (PCA) by CDFI, and recorded the peak systolic velocities (PSV), end diastolic velocities (EDV), time averaged maximum velocities (TAMX), pulsatility indexes (PI) and resistance indexes (RI) in all cases. Each hemodynamic parameter in the affected eye (21.36 ± 1.19) mm was compared with those in the contralateral normal eye (controls). T-test was used for the estimation of significance of the difference between the diseased and normal eyes. The axial length in diseased eyes was significantly shorter than that of the controls (22.92 ± 1.09) mm (t = 3.617, P < 0.05). The changes of CDFI in diseased eyes included retinal detachment, retinal cyst, subretinal organization, etc. Vitreoretinal traction, intraocular ossification and calcification were uncommon. The PSV (6.96 ± 1.21) cm/s and EDV (1.99 ± 0.36) cm/s in the diseased eyes were significantly lower than the PSV (8.30 ± 1.46) cm/s and EDV (2.48 ± 0.47) cm/s in the control eyes (t = 2.995, 3.476;P < 0.05). No significance difference was present in other hemodynamic parameters between diseased and normal eyes. Coats disease is a congenital disease that may influence the development of the eye. The ultrasonography is helpful for the diagnosis and differential diagnosis in Coats disease. Low perfusion of the central optic artery might exist in Coats disease. The hemodynamics changes in Coats disease require further studies.

Toxoplasma gondii: Flat-mounting of retina as a new tool for the observation of ocular infection in mice

Ocular toxoplasmosis is the principal cause of posterior uveitis and a leading cause of blindness. Animal models are required to improve our understanding of the pathogenesis of this disease. The method currently used for the detection of retinal cysts in animals involves the observation, under a microscope, of all the sections from infected eyes. However, this method is time-consuming and lacks sensitivity. We have developed a rapid, sensitive method for observing retinal cysts in mice infected with Toxoplasma gondii. This method involves combining the flat-mounting of retina – a compromise between macroscopic observation and global analysis of this tissue – and the use of an avirulent recombinant strain of T. gondii expressing the Escherichia coli β-galactosidase gene, visually detectable at the submacroscopic level. Single cyst unilateral infection was found in six out of 17 mice killed within 28 days of infection, whereas a bilateral infection was found in only one mouse. There was no correlation between brain cysts number and ocular infection.

Formation of idiopathic macular hole—reappraisal

The study is intended to examine the development of macular hole in idiopathic conditions. A 2-year case file of optical coherence tomography (OCT) with the initial diagnosis of idiopathic impending hole (IH) or lamellar hole (LH) was reviewed. All cases of IH or LH were sequentially examined for more than 9 months. All cases with IH had vitreo-foveal adhesion, and were separated into type A (foveal detachment +/- inner retinal cysts) and type B (inner retinal cysts only). Eight cases had type A IH, 15 cases had type B IH, and 27 cases had LH. Seven cases of type A IH developed full-thickness macular hole (FTMH) at an average of 5.1 +/- 2.2 months, and the one other case was operated. Five cases of type B IH were operated. For the other ten cases, at an average of 11.4 +/- 3.5 months, none had developed foveal detachment or FTMH, but five had developed LH. Three cases with initial LH subsequently developed FTMH. In idiopathic cases, vitreo-foveal traction with foveal detachment may lead to FHMH, while inner cysts only without foveal detachment seem tend to evolve into LH instead of FHMH. Furthermore, LH may develop into FTMH.

Accuracy of retinal thickness measurements obtained with Cirrus optical coherence tomography

Aim:To report the frequency and severity of retinal thickness measurement errors in a Fourier domain optical coherence tomography (FDOCT) device, Cirrus OCT.Methods:Data from 209 eyes undergoing Cirrus OCT imaging with...

Internal Drainage of a Retinal Macrocyst With an Nd:YAG Laser to Aid Primary Retinal Reattachment

Retinal macrocysts are an occasional finding in patients with long-standing retinal detachments. The cysts usually do not require any specific treatment during procedures to repair retinal detachment and resolve spontaneously after retinal reattachment. However, if the cyst is adjacent to a retinal break and prevents its closure, the retinal reattachment procedure can fail. We describe a technique using the Nd:YAG laser to perforate the retinal cyst postoperatively, which allows for subsequent break closure and retinal reattachment.

Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6

BackgroundEquine Multiple Congenital Ocular Anomalies (MCOA) syndrome consists of a diverse set of abnormalities predominantly localized to the frontal part of the eye. The disease is in agreement with a codominant mode of inheritance in our horse material. Animals presumed to be heterozygous for the mutant allele have cysts originating from the temporal ciliary body, peripheral retina and/or iris. In contrast, animals predicted to be homozygous for the disease-causing allele possess a wide range of multiple abnormalities, including iridociliary and/or peripheral retinal cysts, iridocorneal angle abnormalities, cornea globosa, iris hypoplasia and congenital cataracts. MCOA is most common in the Rocky Mountain horse breed where it occurs at a high frequency among Silver colored horses. The Silver coat color is associated with mutations in PMEL17 that resides on ECA6q23. To map the MCOA locus we analyzed 11 genetic markers on ECA6q and herein describe a chromosome interval for the MCOA locus.ResultsWe performed linkage analysis within 17 paternal half-sib families of the Rocky Mountain horse breed. More than half of the 131 offspring had the Cyst phenotype and about one third had MCOA. Segregation data were obtained by genotyping 10 microsatellite markers most of which are positioned on ECA6q22-23, as well as the missense mutation for the Silver phenotype in PMEL17. Significant linkage was found between the MCOA locus and eight of the genetic markers, where marker UPP5 (Theta = 0, z = 12.3), PMEL17ex11 (Theta = 0, z = 19.0) and UPP6 (Theta = 0, z = 17.5) showed complete linkage with the MCOA locus. DNA sequencing of PMEL17 in affected and healthy control individuals did not reveal any additional mutations than the two mutations associated with the Silver coat color.ConclusionThe MCOA locus can with high confidence be positioned within a 4.9 megabase (Mb) interval on ECA6q. The genotype data on UPP5, PMEL17ex11 and UPP6 strongly support the hypothesis that horses with the Cyst phenotype are heterozygous for the mutant allele and that horses with the MCOA phenotype are homozygous for the mutant allele.

MSH2 and MLH1 testing

DNA testing is recommended in families fulfilling at least suspected criteria. After exclusion of FAP (characteristic FAP features include polyposis, congenital hypertrophy of the retinal pigment epithelium, cysts and osteomata of bones of the maxilla and mandible, desmoid tumours), immunohistochemical analyses (IHC) of MLH1, MSH2 and MSH6 expression in malignant tissues should be performed (absence of the protein may indicate the mutated gene). The results of several studies performed in our centre characterised the frequencies and spectrum of MSH2 and MLH1 mutations in Poland [1]. Similarly to other populations, the most frequent causes of HNPCC in Poland are MLH1 and MSH2 mutations, constituting 90% of all mutations associated with this syndrome. MLPA detects 10% of these mutations. In over 60% of all HNPCC families recurrent mutations can be found. Thus after IHC, MLPA for MSH2 and MLH1 should be performed. Next, with MLPA negative, DNA tests searching for recurrent mutations, characteristic for the Polish population, should be applied. The last step should include DHPLC [2] and sequencing of the cases indicated by DHPLC results.

USE OF CORONAL SIMULTANEOUS OPTICAL COHERENCE TOMOGRAPHY/SCANNING LASER OPHTHALMOSCOPY TO DEMONSTRATE CYSTOID MACULAR EDEMA SECONDARY TO EXTRAFOVEAL RETINAL HOLE

To describe a clinical appearance of macular edema secondary to extrafoveal retinal hole using coronal (en-face) optical coherence tomography/scanning laser ophthalmoscopy (OCT/SLO) imaging. Case report. A 76-year-old man developed an extrafoveal retinal hole in his right eye after pars plana vitrectomy and epiretinal membrane removal 1 year after surgery. He complained of decreased central vision. Coronal scan showed extrafoveal retinal hole with multiple retinal cysts surrounding the retinal hole and communicating with the macular area. The OCT/SLO ophthalmoscope can be useful in understanding pathophysiology of macular edema.

Detection of Paravascular Lamellar Holes and Other Paravascular Abnormalities by Optical Coherence Tomography in Eyes with High Myopia

To investigate the morphologic alterations at or around the blood vessels of the retinal vascular arcade by optical coherence tomography (OCT) in highly myopic eyes. Observational case series. Two hundred eighty-seven eyes of 149 patients with high myopia (refractive error >/=-8.00 diopters [D] or axial length >26.5 mm) were studied. Fifty-six emmetropic (+1.00 to -1.00 D) eyes and 44 eyes with low (<-6.00 D) myopia were examined as controls. The participants had a complete ophthalmologic examination, including stereoscopic fundus observations and OCT examinations. Multiple OCT scans were made along the entire extent of the posterior vascular arcade and across the fovea in each patient. The incidence of paravascular retinal cysts, vascular microfolds, and paravascular retinal holes was determined. Retinoschisis at the retinal vessels and a macular retinoschisis were also evaluated. In 287 eyes with high myopia, paravascular retinal cysts were detected in 142 eyes (49.5%), vascular microfolds in 128 eyes (44.6%), and paravascular retinal holes in 77 eyes (26.8%) by OCT. The paravascular retinal holes were partial-thickness lamellar holes in all of the patients; full-thickness holes were never detected. Vascular microfolds and paravascular lamellar holes were always accompanied by paravascular retinal cysts. Optical coherence tomography examinations revealed the presence of vitreoretinal traction on the inner walls of retinal cysts in sections adjacent to the retinal holes. In the 77 eyes with paravascular lamellar holes, 34 eyes (44.2%) were associated with internal limiting membrane (ILM) detachments and 15 eyes (19.5%) were associated with a macular retinoschisis. In fact, 15 of 18 eyes (83.3%) with a macular retinoschisis had paravascular lamellar holes. None of the 100 control eyes had these paravascular abnormalities. These findings indicate that different types of paravascular abnormalities are relatively common in highly myopic eyes. Our findings suggest that paravascular lamellar holes form when the inner wall of paravascular retinal cysts is avulsed by vitreous traction. The presence of paravascular lamellar holes might enhance the proliferative response of the ILM, and this might be an important causative factor for the development of a macular retinoschisis in highly myopic eyes.

Morphologically functional correlations of macular pathology connected with epiretinal membrane formation in spectral optical coherence tomography (SOCT)

Preretinal membrane formation is a frequently diagnosed disease in ophthalmology. Its pathogenesis is unclear. Optical coherence tomography is an important diagnostic tool in patients with epiretinal membranes. In our study we use high-speed and high-resolution spectral OCT. Our goal was to present different forms of ERM and to analyze the influence of some morphological changes on visual acuity. We evaluated 44 cases of preretinal fibrosis. Patients were divided into two groups depending on macula morphology. High-resolution and 3D SOCT scans were acquired from all patients and analyzed. Maximum retinal thickness and retinal thickness in the fovea were measured. Type of ERM, presence of retinal cysts and photoreceptor defects were recorded. We analyzed the influence of those data on visual acuity. Globally adherent membranes were the most frequent membrane architecture type in each group. The mean visual acuity in both groups did not significantly differ. Presence of retinal cystic formation had no influence on visual acuity. A statistically significant correlation was observed between central retinal thickness and VA in Group 2 (A = -0.488; p = 0.006). Photoreceptor defect was observed in 4 patients in group 1 and 11 in group 2. Patients with photoreceptor defect had significantly lower visual acuity (P = 0.04 for Group 1 and P = 0.002 for Group 2). SOCT pictures of eyes with ERM are diverse. Thanks to high-resolution and 3D scanning protocols, more information can be gathered. Morphological changes in the retina, such as oedema with cystic spaces, lamellar macular holes, macular pseudoholes and photoreceptor defects, were present in patients with ERM. Estimation of those changes may be an important prognostic factor in cases of epiretinal membranes.

Errors in Retinal Thickness Measurements Obtained by Optical Coherence Tomography

To report the frequency and severity of optical coherence tomography (OCT) retinal thickness measurement errors and to describe parameters that predict these errors. Observational case series. Two hundred consecutive patients undergoing OCT imaging. One eye (primary) from each of 200 consecutive patients undergoing Stratus OCT imaging (Carl Zeiss Meditec, Dublin, CA) with radial lines or fast macular thickness-based acquisition protocols was selected for review by 2 graders. On each of the line scans, graders evaluated the position of the automated retinal boundary lines (inner retinal surface and retinal pigment epithelium band) used by the OCT machine for thickness calculations and graded the positioning on a 6-point subjective, categorical error scale to generate an error score. The presence of thickness errors was correlated with various parameters, including the analysis confidence assessment reported by the OCT software, disease diagnosis, retinal morphologic features, the foveal center thickness standard deviation (FCTSD), and the FCTSD-to-foveal center thickness (FCT) ratio. Average OCT retinal thickness error score. Errors of retinal boundary detection and thickness measurement were observed in 92% of eyes, but were severe in only 13.5% of eyes. The identification of an error or low analysis confidence by the OCT software was strongly associated with the severity of the retinal thickness errors. A higher FCTSD-to-FCT ratio and presence of subretinal fluid also were associated with more severe errors. Retinal cysts and a diagnosis of retinal vascular disease such as diabetic macular edema were less likely to be associated with significant errors. Retinal thickness measurement errors occur frequently with current OCT segmentation and analysis algorithms. Severe errors are more frequent in eyes with subretinal pathologic features, but generally are detected by the OCT software. A high FCTSD-to-FCT ratio (>0.1) also may alert the clinician to the possibility of thickness errors. Clinical studies, particularly those pertaining to subretinal diseases, should consider these errors when incorporating OCT imaging in the study design.

Detection of paravascular retinal cysts before using OCT in a highly myopic patient

We describe a case of high myopia who developed paravascular retinal rarefaction generated by vitreoretinal adhesion on retinal vessels detected using optical coherence tomography (OCT). A 31-year-old man received a regular ophthalmologic examination for high myopia including detailed fundus examination and OCT. Detailed fundus examination revealed retinal rarefaction and fissure-like findings alongside the superior temporal retinal artery and vein in the right eye. OCT images revealed vitreoretinal adhesions on the retinal artery and a paravascular cystoid space in the inner retina. There was no retinal detachment. The axial length had increased by 1.50 mm over 15 years. Paravascular retinal rarefaction as well as pseudohole formation caused by vitreoretinal adhesion on retinal vessels was detected in this patient using OCT. OCT might be useful to detect early-stage retinal pathologies caused by paravascular vitreoretinal traction in highly myopic patients.

A papillary thyroid carcinoma case associated with hereditary colon carcinoma due to familial adenomatous polyposis with no hereditary mutation finding

Dear Editor: Familial adenomatous polyposis (FAP) is characterized by multiple intestinal adenomatous polyps, congenital hypertrophic retinal pigment epithelial (CHRPE) lesions, epidermoid cysts, and osteomas on the mandible. If left untreated, one or more of these colorectal polyps will progress to colorectal cancer typically by the age of 40 years with consequent need for prophylactic surgery. Cases with accompanying thyroid carcinoma had been reported with only 1–2% of patients with a history of FAP and are found mostly in young women aged 30 or below at the time of diagnosis. We present a case with hereditary colorectal carcinoma due to a history of FAP and papillary thyroid carcinoma with no hereditary mutation observed in the analyses of APC, TP53, BRCA1, and BRCA2 genes. A 34-year-old woman was admitted complaining of dyspepsia and constipation. Her physical examination revealed tenderness and a palpable mass in the left pelvic area. In her past medical history, she was diagnosed with papillary thyroid carcinoma, underwent a total thyroidectomy with central compartment of neck node dissection in 1996, and was still in remission. In pelvic ultrasound examination a huge tumor (15.3×10.7 cm) was reported; pelvic magnetic resonance imaging also revealed a large tumor (17.0×13.0×9.0 cm) in the left parametrium. Results for tumor markers (CEA, CA 19-9, CA 15-3, and CA 125) were unremarkable. She was subjected to pelvic exploration with a diagnosis of an ovarian tumor. Exploration showed an infiltrating tumor in the left ovary originated from the rectosigmoid junction. Further exploration showed that there was a synchronous tumoral mass in the left colon and polyposis coli throughout the entire colon. Subtotal colectomy with Hartman pouch was performed, and the pathology was reported as polyposis coli with undifferentiated adenocarcinoma of the colon in two localizations, which infiltrated to the ovary and tuba uterine. After the surgical examination, adjuvant chemotherapy was planned. In her detailed pedigree analyses, a history of FAP was observed in her father and one of her uncles. The patient and her brother had no routine colonoscopy analyses. Different molecular analyses were performed on the candidate genes to find the hereditary gene mutations in this family. The DNA was isolated from peripheral blood of the patient by using standard protocol; mutation analyses of APC gene (exons 1 to 15) were amplified. Exons 5–9 of the p53 gene were amplified using primers designated from the published sequence. PCR was performed according to standard methods. The common mutations of BRCA1 and BRCA2 genes (2312del5, 2800delAA, 3166ins5, G. Yagci (*) Department of Surgery, Gulhane Military Medical Academy, Etlik, 06018 Ankara, Turkey e-mail: gyagci@gata.edu.tr Tel.: +90-312-3045113 Fax: +90-312-3045002

Phrenic Nerve Hemangioblastoma in a von Hippel-Lindau Patient

Johnson J, Junewick J, Cottingham S(AQ1) emangioblastomas are benign, highly vascular tumors that predominantly occur in the central nervous system. Thirty percent of hemangioblastomas are associated with von Hippel-Lindau disease, an autosomal dominant disorder also characterized by retinal angiomas, renal cysts and carcinomas, pheochromocytomas, and pancreatic cysts and carcinomas [1]. Hemangioblastomas occur predominantly in the posterior fossa, spinal cord (< 5%) [2], less commonly in the brainstem, rarely supratentorially [1], and rarer still extradurally [2, 3]. Extradural hemangioblastomas generally occur near the nerve roots, often widening the exiting foramina [4]. Only two other hemangioblastomas have been reported along a peripheral nerve in purely extravertebral locations [2, 3]. Case Report A 48-year-old woman with von HippelLindau disease and a history of previous multiple spinal and cerebellar hemangioblstomas complained of soreness and swelling in the right side of her neck. CT (Fig. 1A) and MRI (Figs. 1B and 1C) examinations were performed. The mass was surgically resected from around the normally functioning right phrenic nerve. Immunohistochemistry stained positively for vimentin, neuron-specific enolase, and S-100, and negatively for cytokeratins AE1/AE3 and epithelial membrane antigen, confirming hemangioblastoma.

Aicardi syndrome: review and MRI findings of an unusual case associated with retrobulbar colobomatous cyst and band heterotopia

Aicardi syndrome is a rare X-linked dominant genetic disorder, which is characterized by infantile spasms, chorioretinal lacunae, mental retardation, and agenesis or hypogenesis of the corpus callosum. We present MRI findings of a 3-year-old female patient that reveal very rarely observed associated findings of retinal colobomatous cyst and band heterotopia in addition to the classical clinical and neuroimaging findings of Aicardi syndrome.

Three-dimensional observations of developing macular holes

PURPOSE: To describe the morphologic features of idiopathic macular holes and vitreous traction during macular hole evolution. METHODS: We prospectively examined 89 eyes of 82 patients with idiopathic macular holes (stage 1, 15 eyes; stage 2, 16 eyes; stage 3, 50 eyes; stage 4, eight eyes) using optical coherence tomography. In addition to optical coherence tomography, scanning laser ophthalmoscopy was performed in all 15 eyes with stage 1 hole, six of 16 eyes with stage 2, and 19 of 50 eyes with stage 3. RESULTS: In stage 1 eyes, optical coherence tomography revealed retinal split or cystic changes at the fovea in 11 of 15 eyes (73%) and foveal retinal detachment in four eyes (27%). Two eyes with foveal cysts progressed to stage 2, and one developed a stage 3 hole. In one eye with retinal detachment, the detached retina thinned and developed dehiscence. Optical coherence tomography showed a vitreous cortex that was detached in the perifoveal area but attached on the fovea in 11 of the 15 stage 1 eyes. In stage 2 macular holes, retinal tissue extending from the perifoveal retina formed a flap. Scanning laser ophthalmoscopy demonstrated intraretinal radiating striae, which corresponded to a foveal cyst or perifoveal cystic changes. CONCLUSIONS: Macular holes start as retinal splits or foveal cysts in most cases. The anterior wall of the cyst serves as a flap in stage 2 and an operculum in stage 3 holes. Radiating striae correspond to retinal splits or cysts and presumably represent an elevation of Henle fiber. In a few macular holes, foveal detachment is the initial change. The detached retina thins and eventually develops a hole. In both courses, anterior traction of the slightly detached vitreous cortex appears to be a major contributing factor to macular hole formation.

Disease of the equine posterior segment.

The appearance of the equine fundus is reviewed from the perspective of differentiating normal variations from disease, and the descriptions have been updated to include recently published ocular fundic abnormalities. Most pathological lesions are identified near the optic nerve head, and typically involve depigmentation or hyperpigmentation. Depending upon configuration and appearance, linear pigmented bands may reflect the course of the vortex veins, the transition from tapetal to nontapetal fundus, or indicate chorioretinitis or equine motor neuron disease. Choroidal vasculature is readily apparent in color-dilute (subalbinotic) horses and must be differentiated from hemorrhage. Retinal hemorrhages in foals are common and may occur independently to hypoxic ischemic encephalopathy. Retinal cysts may signal more significant disease in the eye such as anterior segment dysgenesis. Prominence of gray or tan-colored material on or near the optic nerve head may represent traumatic optic neuropathy, benign optic neuropathy, proliferative optic neuropathy or actual neoplasia.

Disease of the equine posterior segment

AbstractThe appearance of the equine fundus is reviewed from the perspective of differentiating normal variations from disease, and the descriptions have been updated to include recently published ocular fundic abnormalities. Most pathological lesions are identified near the optic nerve head, and typically involve depigmentation or hyperpigmentation. Depending upon configuration and appearance, linear pigmented bands may reflect the course of the vortex veins, the transition from tapetal to nontapetal fundus, or indicate chorioretinitis or equine motor neuron disease. Choroidal vasculature is readily apparent in color‐dilute (subalbinotic) horses and must be differentiated from hemorrhage. Retinal hemorrhages in foals are common and may occur independently to hypoxic ischemic encephalopathy. Retinal cysts may signal more significant disease in the eye such as anterior segment dysgenesis. Prominence of gray or tan‐colored material on or near the optic nerve head may represent traumatic optic neuropathy, benign optic neuropathy, proliferative optic neuropathy or actual neoplasia.

Retinal thickness variation in the diabetic patient measured by the retinal thickness analyser

AIMTo evaluate the potential of the retinal thickness analyser (RTA) as an objective tool for assessment and follow up of diabetic macular oedema.METHODSA prototype of the RTA that operates on...

LIGHTNING MACULOPATHY

Lightning can cause a number of ocular complications. A case involving a patient who developed a cataract and reversible maculopathy in both eyes after being struck by lightning is reported. The patient was evaluated for cataract and macular edema by ophthalmoscopic examination, fluorescein angiography, and potential acuity meter. Maculopathy developed that was characterized initially by a retinal cyst with surrounding edema. Later, the lesions evolved to simulate a full-thickness hole. These lesions subsequently resolved, and the patient's visual acuity improved to 20/20 in each eye after cataract extraction. Because the visual prognosis for lightning-induced maculopathy is potentially different than that for full-thickness macular holes, careful retinal examination is essential in the preoperative workup.