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Polypoidal choroidal vasculopathy: angiographic characterization of the network vascular elements and a new treatment paradigm.

Macular exudative manifestations secondary to choroidal neovascular lesions remain the leading cause of definitive visual impairment and legal blindness in the elderly. During the past decade, advances in ophthalmic imaging systems have enabled the recognition of presumed new distinct choroidal neovascular lesions that share some unique clinical and angiographic peculiarities as well as better comprehension of the pathophysiologic mechanisms related to such entities. Amongst presumed newer exudative maculopathies, polypoidal choroidal vasculopathy, which has been described as a distinct choroidal abnormality characterized by inner choroidal vascular network of vessels ending in polyp-like structures only identified on indocyanine green angiography and mostly affecting African-American and Asian descendents, has gained special interest from the ophthalmic community particularly because of its growing recognition among patients with clinical appearance of neovascular age-related macular degeneration. Thus far, however, the exact nature of the vascular structure of the polypoidal choroidal vasculopathy lesion remains unclear and data from recent studies have conflicted with the initial concept of a benign exudative maculopathy with long-term preservation of good vision. All together, such factors make difficult the establishment of an appropriate treatment, if any, for the entity. Herein, by using a modified technique of conventional indocyanine green angiography, we demonstrate new information about the morphologic characteristics, and to some extent the blood flow dynamics perfusion, of the polypoidal choroidal vasculopathy lesion. Our results suggest that the PCV lesion should be considered a variety of choroidal neovascularization rather than a distinct clinical entity, characterized by one single large neovascular complex presenting well-defined arterial neovascular vessels arising from one major "ingrowth site" and draining vessels that present aneurysm-like dilations corresponding to the polyp-like structures typically described for the entity. Finally, the visual acuity and angiographic findings observed after selective ingrowth site photothrombosis corroborate the existence of one major "ingrowth site" for the PCV neovascular complex and point toward a new treatment paradigm for this variety of choroidal neovascularization.

Angiography↗

Chorioretinal damage caused by the excision of choroidal neovascularization.

PURPOSE: To determine whether choroidal neovascularization excision causes mechanical damage to the neurosensory retina, retinal pigment epithelium, or choriocapillaris. METHODS: Prospectively, 18 eyes of 18 consecutive patients who underwent choroidal neovascularization excision were observed. Preoperatively and postoperatively, the integrity of the choriocapillaris circulation in the pathway of choroidal neovascularization extraction was studied by fluorescein and indocyanine green angiography. Using static scanning laser ophthalmoscope microperimetry, the presence of iatrogenic scotomas that developed postoperatively in the pathway of choroidal neovascularization extraction was also investigated. RESULTS: Postoperatively, a choriocapillaris defect was detected in 17 (94.4%) of 18 cases. In 15 cases (83.3%), the choriocapillaris defect had a clear relationship to the pathway of choroidal neovascularization extraction. Postoperatively, a scotoma was present in 16 (88.9%) of 18 cases. In 14 cases (77.8%), the location of the scotoma had a clear relationship to the pathway of choroidal neovascularization extraction. CONCLUSION: Surgical excision of choroidal neovascularization leads to severe damage of the choroid and retina in the pathway of the extracted choroidal neovascularization. The injury involves the neurosensory retina, retinal pigment epithelium, and choriocapillaris.

Adult↗

Experimental studies of indocyanine green dye-enhanced photocoagulation of choroidal neovascularization feeder vessels.

PURPOSE: To report a model of choroidal neovascularization feeder vessels that reconciles current histologic, angiographic, and clinical data, and to report experimental studies that investigate the potential of indocyanine-green-dye-enhanced photocoagulation to improve feeder-vessel treatment. METHODS: A model of choroidal neovascularization feeder vessels was conceived to account for current histologic and angiographic data. Based on that model, experimental studies of the efficacy of indocyanine green-dye-enhanced photocoagulation were performed, using pigmented rabbit eyes as a model system. A Zeiss fundus camera was modified to permit visualization of choroidal blood flow by high-speed indocyanine green angiography and to permit simultaneous delivery of 810-nm-wavelength diode laser photocoagulation pulses to specific choroidal vascular targets during indocyanine green-dye bolus transit. RESULTS: Choroidal neovascularization feeder vessels appear to originate in the Sattler layer (that is, that portion of the choroidal vasculature consisting of medium-diameter vessels) and enter the choriocapillaris in close proximity to the small capillary-like vessels that penetrate Bruch membrane and communicate with the choroidal neovascularization. The rabbit eye experiments demonstrated that the presence of high indocyanine green dye concentration in circulating blood enhances uptake of near-infrared laser energy (three eyes); injection of sequential indocyanine green dye boluses results in gradually decreased efficiency of dye-enhanced photocoagulation (two eyes); and by application of laser energy during the initial transit of small-volume, high-concentration indocyanine green dye boluses, dye-enhanced photocoagulation of large diameter choroidal arteries can be accomplished with relatively little concomitant retinal tissue damage (three eyes). CONCLUSIONS: Although future trials will be necessary to substantiate these initial findings in the clinical arena, it appears that the efficiency of choroidal neovascularization feeder-vessel photocoagulation may be enhanced, while minimizing concomitant damage to overlying retinal tissue, by delivery of 810-nm wavelength laser energy immediately upon arrival of a high-concentration indocyanine green dye bolus in a targeted feeder vessel. However, molecules of dye adhering to vessel walls or lying in tissue interstitial spaces appear to divert laser energy from the photocoagulation process, so efficiency of indocyanine green dye-enhanced photocoagulation gradually diminishes as the number of injected dye boluses increases.

Animals↗

[Choroidal changes after photodynamic therapy (PDT). A two-year follow-up study of 38 patients].

BACKGROUND: Photodynamic therapy is a new option for treatment of choroidal neovascularisation in patients with age-related macular degeneration. But choroidal changes and associated angiographic characteristics have not been further evaluated. PATIENTS: Indocyanine green angiography was used to follow 38 patients with subfoveal choroidal neovascularisation in age-related macular degeneration over up to two years. All patients were treated with the photosensitizer Benzoporphyrin Derivative-MA receiving either a single or triple treatment. RESULTS: Indocyanine green angiography shows two effects of photodynamic therapy. On the one hand a selective and lasting closure of choroidal neovascularisation was documented. Choroidal neovascularisation-size and leakage was significantly reduced in the entire treatment group to 20.7% and 28.3% one week after treatment, followed by a slow increase to 33.3% and 41.2% at up to two years longterm follow up. On the other hand photodynamic therapy causes typically a peri-lesional hypofluorescence in Indocyanine green angiography. This hypofluorescence is most likely due to choroidal hypoperfusion and vascular endothelial changes. A continuous increase in fluorescence was shown, reaching again 90% of the pretreatment intensity at 3 months, documenting a good recovery of the choroidal network. CONCLUSION: The results show that photodynamic therapy is an alternative treatment in age-related macular degeneration with choroidal, subfoveal neovascularisation. Indocyaningreen angiography reflects well choroidal changes associated with this therapy and may be helpful to choose treatment intervals.

Choroid↗

Indocyanine green angiography of circumscribed choroidal hemangiomas.

BACKGROUND: Indocyanine green (ICG) angiography performed with the modern high resolution digital system already has improved our knowledge of several chorioretinal disorders. It could provide new information on circumscribed choroidal hemangiomas. METHODS: Twelve consecutive patients with circumscribed choroidal hemangioma underwent both fluorescein angiography and ICG angiography with a digital high resolution system. In each patient, two ICG angiograms were taken - with normal and with artificially increased intraocular pressure. The latter method allowed analysis of the vascular connections of the tumor with the adjacent choroid during the induced slowdown of blood flow. RESULTS: With ICG, the authors obtained a clear delineation of the choroidal hemangiomas. In all cases, the lesion was better defined on the ICG than on the fluorescein angiogram. Nutrient and draining vessels of the tumors were identified. Nutrient vessels were represented by short posterior ciliary arteries in five eyes with severe exudative syndrome, and by ramifications of choroidal arteries in the other cases. Further special ICG findings were apparent choroidal ischemia downstream from the tumor (9 eyes), and clearing of the dye with a "washout" phenomenon. CONCLUSION: Indocyanine green angiography can be helpful in the clinical evaluation of circumscribed choroidal hemangiomas. The blood supply to these tumors is provided directly by short posterior ciliary arteries or by ramifications of choroidal arteries. An adjacent compromised choroidal perfusion may be present.

Adult↗

Decreased arterial dye-filling and venous dilation in the macular choroid associated with age-related macular degeneration.

PURPOSE: To compare the angioarchitecture of choroidal arteries and veins in patients with age-related macular degeneration (AMD) to the angioarchitecture of age-matched normal subjects using indocyanine green (ICG) angiography. METHODS: ICG angiography was performed in 35 consecutive AMD patients and 18 normal age-matched volunteers with a fundus ICG camera. ICG video images, including the arterial and venous phases, were quantitatively analyzed using image analyzing software. RESULTS: In patients with AMD, the choroidal arterioles are dilated, fewer, run a straighter course, and possess fewer bifurcations. The number of choroidal arteries and the macular fluorescent intensity in the arterial phase of choroidal filling was significantly less in patients with AMD as compared to age-matched normal controls (P = 0.008). The mean and maximum caliber of choroidal veins in the macula was dilated in AMD eyes than in age-matched normal control eyes (P < 0.001). There was no statistically significant difference in arterial dye filling or venous caliber observed in AMD eyes, with or without choroidal neovascular membrane (CNV). CONCLUSION: Choroidal arterial perfusion in the macula was significant decreased in eyes with AMD with and without CNV, and was associated with choroidal venous dilation. These observations implicate poor choroidal perfusion of the macula in the pathogenesis of AMD.

Aged↗

Choroidal osteoma: evidence of progression and decalcification over 20 years.

Choroidal osteoma is a rare, benign, ossifying tumour of the choroid of unknown aetiology. In contrast to other types of intraocular ossification, choroidal osteoma is found typically in young healthy females in the second or third decades of life with no history of systemic or ocular disease. Choroidal osteoma is a deep, pale yellow lesion with distinct geographic borders at the juxtapapillary or macular region, with branching 'spider' vessels on the surface of the tumour. These features should help differentiate choroidal osteoma from other types of intraocular tumour and the diagnosis can be confirmed with ultrasonography and computerised tomography. Here we report an initially unilateral case of choroidal osteoma, which decalcified over 20 years but during the same period the fellow eye also developed a choroidal osteoma to become a bilateral case. Despite the benign nature of the tumour, vision may be compromised by gradual atrophy of the overlying retina, serous retinal detachment, accumulation of sub-retinal fluid and sub-retinal haemorrhage associated with choroidal neovascularisation. Frequent examinations are recommended for patients with choroidal osteoma, for early detection of a subretinal neovascular membrane and potential treatment with laser photocoagulation.

Adult↗

Distribution of transgene in the rodent choroid plexus after intracerebroventricular injection of adeno-associated virus.

Using adeno-associated virus to transfer genetic information to the choroid plexus has emerged as a promising route for long-term gene therapy in the brain for a variety of conditions. Overexpression of proteins has proved effective in small animal models but few attempts have been made to translate this technology to clinic, suppress the activity of a protein of interest, or further expand the limited capsid serotypes known to have choroid plexus tropism. We utilise transfer of green fluorescent protein to show choroid plexus epithelium tropism for novel AAV6 derived capsid ShH10Y445F in mouse, rat and porcine tissue explant cultures. In vivo tropism is shown in the mouse following stereotactic intracerebroventricular injection. We examined the distribution of viral transduction across the choroid plexus in all four ventricles following a single unilateral intracerebroventricular injection using both green fluorescent protein as a transgene, but also the CRISPR/Cas9 system to deliver permanent knockdown of apical water channel aquaporin-1. Quantitative immunofluorescence and SURVEYOR assay were used to statistically assess the magnitude and extent of choroid plexus knockdown across the ventricular system. We conclude that serotype ShH10Y445F targets choroid plexus epithelium in mouse, rat and pig; and when carrying the CRISPR/Cas9 system can reduce target protein expression in these cells. Transduced choroid plexus epithelial cells distribute unevenly with a bias toward the lateral ventricle on the injected side and a preferential infection of choroid plexus in the lateral over the third and fourth ventricles. Overcoming irregular distribution represents a challenge for clinical translation of this technology where clinical efficacy may require manipulation of the entire choroid plexus.

Animals↗

Destruction of choroid plexus cells in vitro: a new concept for the treatment of hydrocephalus?

OBJECTIVE: The current treatment of hydrocephalus using ventriculoperitoneal shunts and third ventriculostomies remains problematic. We revisited the concept of destruction of the choroid plexus for the treatment of hydrocephalus by using an immunotoxin-based technique to specifically destroy this tissue. This approach was based on the observation that, as an epithelial tissue, choroid plexus expresses a number of specific cell-surface proteins that represent excellent potential targets for the creation of a choroid plexus-specific immunotoxin. METHODS: In this study, we characterized sheep and human choroid plexus cells (including atypical and carcinoma cell lines) using fluorescence microscopy in combination with histochemical staining of rat brain and confirmed the presence of a number of epithelium-specific proteins in choroid plexus cells. Immunotoxins were then manufactured by linking these antibodies to ricin A chain and ricin A-B chain. These immunotoxins were delivered to choroid plexus-derived cells in culture, and the results were compared with results of exposure to a nonspecific immunotoxin. RESULTS: Complete cell death of choroid plexus cells was seen after only a 1-hour exposure to the specific immunotoxin, as opposed to the minimal cell death seen with a nonspecific immunotoxin after several hours of exposure. CONCLUSION: These results suggest that immunotoxin-mediated ablation of choroid plexus may be a viable method of treating hydrocephalus and choroid plexus-derived tumors.

Animals↗

Vascular endothelial growth factor- and platelet-derived growth factor-angiogenesis depressed but fetal bovine serum-angiogenesis enhanced choroidal tissue cultures of streptozotocin-diabetic Wistar and GK rats.

BACKGROUND: Diabetic state-induced alterations of angiogenic activity of vascular endothelial growth factor (VEGF) and platelet-derived growth factor (PDGF) were compared with that of fetal bovine serum (FBS) in the cultured choroidal explants of streptozotocin (STZ)-diabetic Wistar and diabetic GK rats. METHODS: Choroidal explants (0.04-1.0 mm2) were isolated from rat eyeballs and cultured in fibrin gels with FBS-Dulbecco's modified Eagle's medium (0.5 mL) containing antibiotics and 300 microg/mL epsilon-amino caproic acid in the presence of recombinant mouse vascular endothelial growth factor and recombinant human platelet-derived growth factor BB at 37 degrees C under 5% CO2 and 95% air. Microvessels newly budded from these choroidal explants were photographed. The number and length of all microvessels per choroidal explant were counted and measured as indices of angiogenesis in vitro. RESULTS: Fetal bovine serum (5-10%) enhanced both angiogenic indices in the explants of STZ-diabetic Wistar and GK rats. The actions of the serum on both angiogenic indices in both diabetic rats were greater than those in age-matched normal rats. Vascular endothelial growth factor (3-30 ng/mL) with 1% fetal bovine serum increased the angiogenic indices in diabetic choroids, but was less pronounced than in normal choroids. The action of the growth factor (2.5 ng/mL) on angiogenesis was also less in diabetic choroids. CONCLUSIONS: Results suggest that the diabetic state may down-regulate the receptors for vascular endothelial and platelet-derived growth factors and/or desensitize their post-receptor signaling in the vascular endothelial cells of choroids, being inexplicable for the enhanced actions of fetal bovine serum on angiogenesis in diabetic choroids.

Animals↗

[Study of choroidal vascular lesions in central serous chorioretinopathy using indocyanine green angiography].

We performed fluorescein and indocyanine green (ICG) angiographies in 56 patients with central serous chorioretinopathy, and studied the choroidal lesions. In the early phase, choroidal filling with ICG was delayed in 77% in the area including focal leakage. Hypofluorescent findings around the site of focal leakage persisted through the phase in 23%, and we think this finding was caused by filling defect of the choriocapillaris. In the late phase, choroidal tissue staining by ICG was present in 82% in the area including focal leakage. Multiple areas of choroidal staining were also present in unaffected areas in 43% and in 62% of fellow eyes. Choroidal tissue staining by ICG was revealed in 48% in the area of choroidal filling delay, and this finding persisted after focal leakage had disappeared following photocoagulation. We think this finding was caused by choroidal vascular hyperpermeability. These findings suggest that choroidal circulatory disturbance and choroidal vascular hyperpermeability play a causative role in damage to the retinal pigment epithelium in central serous chorioretinopathy.

Adult↗

Serous choroidal detachment after retinal detachment surgery.

In a prospective evaluation of 154 consecutive retinal detachment procedures, the incidence of choroidal detachment was 39.6%. The age of the patient, drainage of subretinal fluid, and vortex compression by the explant seem to be the most important correlative factors. Scleral explants up to one quadrant in circumferential length produced a minimal incidence (7.7%) of choroidal detachment. Posterior positioning of the explant also affected the incidence of choroidal detachment. After follow-up, ranging from six to 48 months, postoperative visual acuity was recorded for "macula-on" as well as "macula-off" retinal detachments. In the macula-on group, 78.6% of the patients with choroidal detachment retained a visual acuity of 20/50 or better compared with 82.8% of the patients without choroidal detachment. In the macula-off group, 43.2% of the patients with choroidal detachment achieved a visual acuity of 20/50 or better compared with 55.1% of the patients without choroidal detachment. The final anatomic success rate was 86.5% for eyes with choroidal detachment and 92.3% for eyes without choroidal detachment.

Age Factors↗

Choroidal vascular permeability in visually regulated eye growth.

The choroidal thickness fluctuates both diurnally and in response to changes in visual input. The fluctuations may represent a physiologic means of aligning the retinal photoreceptors with the focal position of distant images during the emmetropization process. To evaluate the basis for choroidal thickness changes, we studied the sources of the extravascular fluid in the chick choroid in two visually-regulated ocular growth conditions: accelerated ocular growth in goggle-induced form-deprivation myopia and ocular growth retardation in the recovery from myopia after goggle removal. Two week old chicks, controls, myopic and those recovering from myopia, received fluorescein dextran (MW = 140,000) as a tracer. It was given by intravenous injection to identify a potential vascular pathway and by intracameral injection to identify a potential pathway from the anterior chamber to the suprachoroidal space. Using a microscopically positioned needle, clear fluid was aspirated from the suprachoroidal space of the enucleated chick eye; this fluid presumably corresponds to the contents of the lacunae, prominent lymphatic-like structures of the chick choroid. Plasma, aqueous humor and suprachoroidal fluid were sampled 1 hr after injection and assayed for both protein content and the tracer dye. Sulfated glycosaminoglycans were assayed in the suprachoroidal fluid, choroid and sclera under each experimental condition. In control chicks, aqueous humor and suprachoroidal fluid protein concentrations were about 0.8 and 9% of plasma levels respectively. Aqueous humor protein concentration was unaltered in myopic or recovering eyes. Suprachoroidal fluid protein concentration in myopic eyes fell dramatically to 1.5% of plasma levels (P < 0.001). In contrast, recovery from myopia led to a marked increase in suprachoroidal fluid protein level to 30% of that in plasma (P < 0.001). None of the procedures affected suprachoroidal fluid protein in the contralateral control eyes. In all three groups of chicks, fluorescein dextran distribution in the suprachoroidal fluid at 1 hr after intravenous injection tracked protein levels, with reduced levels in myopic eyes and elevated levels in recovering eyes. After intracameral injection, suprachoroidal fluid dextran levels were higher in injected eyes of control chicks (P < 0.01) and in recovering eyes (P < 0.001) but lower in myopic eyes (P < 0.01), compared to the levels in the respective contralateral non-injected eyes in each group. Sulfated glycosaminoglycan levels were at the limits of detection in the suprachoroidal fluid under all conditions and, on a whole choroid basis, were unaltered in the choroid in either myopia or recovery. Suprachoroidal fluid is lymph-like in nature and largely derives from plasma. Sulfated glycosaminoglycan levels do not seem to regulate the fluid content of the choroid in either myopia or recovery. Instead, the changes in protein and marker dye levels in myopic and recovering eyes suggest markedly altered choroidal circulatory dynamics and capillary permeability in both conditions.

Animals↗

Fluorescein angiography of the choroid in health and disease.

Fluorescein angiography of the normal fundus reveals the segmental nature of the choroidal vascular bed. Despite the presence of anatomically demonstrable anastomoses, a segmental distribution is present in vivo up to the choriocapillaris level. Choroidal vascular diseases manifest by localized of diffuse delayed or incomplete filling of the choroid and by the involvement of the overlying retinal pigment epithelium. In the acute phase of choroidal arterial occlusive disease, ophthalmoscopy reveals localized or diffuse edema. Fluorescein angiography of such cases initially shows a delayed perfusion of the involved area followed later on by fluorescein leakage. This late diffusion of the dye is probably related to alterations of the retinal pigment epithelial barrier. The extent of the lesion after resolution of the edema mainly depends on the site and the extent of the occlusion, on the development of collaterals and possibly on the involvement of the choroidal venous circulation. Ophthalmoscopy and fluorescein angiography will reveal localized or diffuse pigmentary changes, sometimes of quite characteristic aspect. This may be associated with local destruction of the choriocapillaris, although normalization of choroidal blood flow may also be observed. Chronic choroidal vascular insufficiency is a possible cause for choroidal sclerosis. Chronic choroidal ischemia is also a possible explanation for peripheral pigmentary changes seen in the elderly.

Adult↗

Choroidal hypoperfusion after surgical excision of subfoveal neovascular membranes in age-related macular degeneration.

PURPOSE: To study the choroidal circulation after surgical excision of subfoveal choroidal neovascular membranes (SFCNVM) in age-related macular degeneration (ARMD). METHODS: Twelve eyes of eleven patients with ARMD that underwent surgical excision of SFCNVMs were evaluated with stereoscopic color fundus photography, stereoscopic fluorescein angiography (FA) and scanning laser ophthalmoscope-indocyanine green videoangiography (SLO-ICGv). The patients were followed for a mean of 7.9 months (range 2 to 14 months). RESULTS: Preoperatively, all eyes had angiographic evidence of a SFCNVM, with SLO-ICGv showing the presence of a choriocapillary blush. Postoperatively, stereoscopic color fundus photographs documented that the bed of the surgical excision was characterized by an absence of visible retinal pigment epithelial (RPE) pigmentation in all eyes. Stereoscopic FA of the excision bed revealed choriocapillary hypofluorescence with visible dye perfusion in the underlying medium and large choroidal vessels in all eyes. SLO-ICGv of the excision bed disclosed the presence of perfused medium and large choroidal vessels, but a marked choroidal hypofluorescence with loss of the choriocapillary and small choroidal vascular filling within the excision bed in eleven of the twelve eyes. CONCLUSION: Our results indicate that both choriocapillary and small choroidal vascular filling is frequently abnormal or absent in the bed of surgically excised subfoveal neovascular membranes in ARMD. This finding, which may represent either pathologic or iatrogenic choriocapillary and small choroidal vascular atrophy or occlusion with preservation of perfusion in the underlying medium and large choroidal vessels, may influence structural and visual recovery after submacular surgery for ARMD, despite RPE transplantation or regeneration.

Aged↗

Moving the retina: choroidal modulation of refractive state.

The chick eye is able to change its refractive state by as much as 7 D by pushing the retina forward or pulling it back; this is effected by changes in the thickness of the choroid, the vascular tissue behind the retina and pigment epithelium. Chick eyes first made myopic by wearing diffusers and then permitted unrestricted vision developed choroids several times thicker than normal within days, thereby speeding recovery from deprivation myopia. Choroidal expansion does not occur when visual cues are reduced by dim illumination during the period of unrestricted vision. Furthermore, in chick eyes presented with myopic or hyperopic defocus by means of spectacle lenses, the choroid expands or thins, respectively, in compensation for the specific defocus imposed. Consequently, when the lenses are removed, the eye finds its refractive error suddenly of opposite sign, and the choroidal thickness again compensates by changing in the opposite direction. If a local region of the eye is made myopic by a partial diffuser and then given unrestricted vision, the choroid expands only in the myopic region. Although the mechanism of choroidal expansion is unknown, it might involve either a increased routing of aqueous humor into the uveoscleral outflow or osmotically generated water movement into the choroid. The latter is compatible with the increased choroidal proteoglycan synthesis either when eyes wear positive lenses or after diffuser removal.

Accommodation, Ocular↗

Second trimester choroid plexus cysts and trisomy 18.

OBJECTIVES: In this study, the aims were to reveal the incidence of isolated choroid plexus cyst in our population, and to discuss the accuracy of distinguishing either an isolated or non-isolated choroid plexus cyst. METHODS: The study population was consisted of 10594 pregnant women. The patients with choroid plexus cysts were classified into two groups: isolated and non-isolated. Detailed ultrasonographic examination and genetic counseling were performed and triple screening test was ordered. The incidence, sensitivity, specificity, false-positive rate and likelihood ratio of cases with isolated choroid plexus cyst for trisomy 18 were determined. RESULTS: Choroid plexus cysts were identified in 109 patients (109/10594; 1.02%). In 102 patients isolated choroid plexus cysts, and in seven patients additional fetal anomalies supporting trisomy 18 were detected. Trisomy 18 was detected in four patients, and one of them had isolated choroid plexus cyst. The likelihood ratio in cases of isolated choroid plexus cysts for trisomy 18 was 9.51 (95% confidence interval, 0.2-41). CONCLUSIONS: According to the study the individual risk for trisomy 18 in isolated choroid plexus cyst should be calculated by using the likelihood ratio. These data allows the physician to express the individual risk of trisomy 18 and permits more accurate genetic counseling.

Brain Diseases↗

A clinical and optical coherence tomography study of the margins of choroidal colobomas.

OBJECTIVE: To describe the features at the margin of the choroidal colobomas as evaluated clinically and by optical coherence tomography (OCT). DESIGN: Prospective observational case series. PARTICIPANTS: Seventeen patients (30 eyes) that presented to the outpatient department of a tertiary care center. TESTING: Clinical examination and OCT testing of the 30 eyes. MAIN OUTCOME MEASURES: Description of OCT features of the margin of the choroidal colobomas. RESULTS: Histologically, there is no normal choroid, retinal pigment epithelium, or retina overlying choroidal colobomas; rather, the overlying tissue is an extension of the retina called the intercalary membrane (ICM). In these patients, OCT showed that transition from normal retina to the ICM could be categorized as abrupt or gradual and also showed that the inner neurosensory retinal layers continued as the ICM, whereas the outer layers could not be traced beyond a point. In some cases with apparently attached retina, subclinical retinal detachments were identified along the margin of the coloboma. In cases with retinal detachment, OCT allowed for identification of the precise site of communication between the sub-ICM space and subretinal space at the locus minoris resistentiae. The margin of the choroidal coloboma, in some cases, showed the appearance of a hump owing to inward turning of the retinochoroidal layers with thickening of the layers at the margin. In small colobomas, OCT revealed the ICM thickness comparable to normal retina but showed structural alterations. Fundus lesions that were clinically labeled forme fruste of choroidal coloboma seemed to have normal retinal thickness and layering on OCT. In 1 patient, a temporal optic pit was associated with the forme fruste choroidal coloboma in 1 eye; the fellow eye had a typical choroidal coloboma. CONCLUSIONS: Optical coherence tomographic evaluation of the margins of choroidal colobomas helps in understanding the transition from retina to ICM, detects subclinical retinal detachments, and aids in identifying the site of communication between the sub-ICM space and the subretinal space in eyes with retinal detachment.

Adolescent↗