A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.

PURPOSE: To report the ophthalmologic features of a novel truncating mutation in the ABCR gene in a patient affected with late-onset fundus flavimaculatus (FFM). METHODS: A complete ophthalmologic examination was performed in a 70-year-old patient, including best-corrected visual acuity measurement, slit lamp and fundus examination, fundus photographs, frequent fluorescein and indocyanine green angiographies, visual field testing, color vision analysis, electroretinogram, and electro-oculogram. The 50 exons of the ABCR gene were analyzed using direct sequencing. RESULTS: Fluorescein and indocyanine green angiographies confirmed the diagnosis of FFM. A heterozygous base change was found, resulting in the substitution of an arginine to a stop at codon 152 of the ABCR gene. CONCLUSIONS: A heterozygous nonsense ABCR gene mutation was found in a patient affected with FFM. No other mutation has been identified in the entire coding sequence and the promoter region, suggesting that a heterozygous severe ABCR mutant may be responsible for a mild and delayed FFM phenotype, different from that of age-related macular degeneration.

Retinal detachment after choroidal ischemia.

Injection of a 15-micron microsphere suspension through one or two vortex veins of nine monkey eyes caused various degrees of sectorial choroidal ischemia, which were documented by fluorescein angiography and electron microscopy. The severity of the lesions to the fundus depended on the volume of microspheres injected (0.4 to 1.6 ml of a suspension of 600,000 microspheres/ml). Three hours after embolization white patches appeared in the retinal pigment epithelium as well as a posterior pole serous retinal detachment in five eyes. Delayed choroidal filling was noted in the quadrant involved, but a few choriocapillaris units slowly perfused, leading to fluorescein leakage in the serous retinal detachments. Histologic examination showed various types of damage to the retinal pigment epithelium, including vacuolization and cell membrane rupture.

Indocyanine green videoangiography of angioid streaks.

PURPOSE: The fluorescein angiographic features of angioid streaks are variable, and angioid streaks and their main complication, choroidal neovascularization, can sometimes be difficult to visualize in the presence of diffuse pigment migration, diffuse atrophy of the retinal pigment epithelium, or hemorrhage. The objective of the present investigation was to define the indocyanine green angiographic features of angioid streaks and to compare them with findings on fluorescein angiography. METHODS: For this prospective study, we recruited 22 consecutive patients, 21 of whom had angioid streaks and one who had typical peau d'orange appearance of the fundus. Complete ophthalmologic examination, fluorescein angiography, and indocyanine green videoangiography by the means of scanning laser ophthalmoscope were performed on all patients. RESULTS: In 21 patients with angioid streaks and in one patient with peau d'orange appearance of the fundus, indocyanine green videoangiography showed angioid streaks in the form of hyperfluorescent lines with numerous associated hyperfluorescent foci. The angioid streaks were more clearly visualized and were seen to be more numerous and larger by indocyanine green videoangiography than with red-free images or fluorescein angiography. Choroidal neovascularization was suspected in six eyes but could be precisely localized by fluorescein angiography in only three eyes. Indocyanine green angiography allowed precise localization of choroidal neovascularization in all six of these eyes. CONCLUSIONS: These findings indicate that indocyanine green videoangiography provides different information than fluorescein angiography in the evaluation of angioid streaks and can more precisely localize their neovascular complications.

[Collar-button choroidal melanoma. Anatomo-radiologic correlations]. / Mélanome choroïdien en bouton de col. Confrontations anatomo-radiologiques.

Malignant melanomas of the choroid are the most frequent symptomatic eye tumours in adults. They often have a pathognomonic appearance, being collar-button or mushroom shaped due to rupture of Bruch's membrane by the tumoral mass. The ultrasonographic image of collar-button melanoma is well known: the head of the tumour is hyperechogenic and its base hypoechogenic. According to some authors, this is caused by difference in blood supply between the two parts. At MRI strongly pigmented melanomas emit a high-intensity signal on T1-weighted sequences and a low-intensity signal on T2-weighted sequences, but these characteristic features are inconstant. We present a case of collar-button melanoma explored by ultrasonography, colour Doppler Flow Imaging (CDFI) ultrasound and MRI, then enucleated. Flows and signals were different in front of, or behind the rupture of Bruch's membrane: ultrasounds showed a hyperechogenic image at the head and a hypoechogenic image at the base; on T2-weighted MRI sections intensity was greater in the head than in the base (head: 69 ms, base 180 ms) on CDFI, no flow was detectable in the head and very high flows were seen in the base of the tumour. Comparisons of these images with pathological findings, where there was no difference between head and base in melanin concentration and in cellular type (mixed or mainly epithelioid), led us to believe that the differences observed in images were essentially due to differences in blood supply between the two parts of the tumour constricted by the sides of the ruptured Bruch's membrane.

[Retinal arterial macroaneurysms]. / Les macroanévrysmes artériels rétiniens.

Nineteen eyes of 17 patients were examined for complications associated with a retinal macroarterial aneurysm. 13 of 17 patients were feminine and over 70 years of age and 15 had longstanding systemic hypertension. Visual loss associated with retinal macroarterial aneurysms was related to macular hemorrhage, exudate, or serous retinal detachment. Twelve eyes had retinal hemorrhages associated with the macroarterial aneurysm. Hemorrhages were subretinal and/or preretinal of which some diffused into the vitreous. Seven eyes were treated by direct argon laser photocoagulation of the aneurysm giving an arterial occlusion. Five eyes received perianeurysmal photocoagulation without occlusion of the arteriole. Five eyes received no laser treatment because their exudate or hemorrhage was not threatening the fovea and these evolved towards cicatrisation without a drop in visual acuity. Improvement in visual acuity was noted with both types of photocoagulation. But, direct photocoagulation was found less preferable since an absolute scotoma may be created by the area deprived of arterial flow. Perianeurysm photocoagulation was found to be effective, and is indicated in cases of deep exudate and edema that may threaten the fovea. Treatment is questionable when hemorrhage is the predominant complication.

[Winer's cutaneous calcinosis. Apropos of a case with eyelid localization]. / Calcinose cutanée de Winer. A propos d'un cas dans sa localisation palpébrale.

A case of Winer's solitary cutaneous calcinosis is used as a basis for a literature review of this rare, benign dermatosis. Despite concordant clinical features diagnosis of this lesion is histologic. Normal blood biological values, a debated etiopathogenicity and the need to eliminate a collagen disease are important factors to bear in mind before making this diagnosis of such a cutaneous lesion, for which exeresis ensures a cure.

[Colobomatous cyst of the orbit in congenital microphthalmos]. / Kyste colobomateux de l'orbite au cours d'une microphtalmie congénitale.

Colobomatous orbital cyst with microphthalmos is an anomaly of the orbital contents occurring during embryogenesis. In this study, we report the case of a 3 year-old child referred with the initial diagnosis of voluminous orbital angioma. Radiological investigations and histological study of the ablated mass established the correct diagnosis of colobomatous cyst. Pathogeny, diagnostic and therapeutic problems are discussed.

[Photocoagulation with the argon laser in cystoid macular edema in retinal venous occlusions. Apropos of 68 cases]. / Photocoagulation au laser à argon dans l'oedème maculaire cystoïde des occlusions veineuses rétiniennes. A propos de 68 cas.

Sixty-eight consecutive eyes with cystoid macular edema due to venous occlusion were treated by grid laser photocoagulation. The diagnosis of cystoid macular edema was based on both the biomicroscopic and angiographic findings. The treatment was applied with blue-green or green argon laser. The criteria for treatment were the presence of cystoid macular edema, visual acuity of 0.5 or less and duration of the venous occlusion for more than 6 months. The technique of treatment included direct photocoagulation of certain microaneurysms and of collateral dilatations exhibiting fluorescein leakage in the macular area, followed by grid photocoagulation applied to the area of cystoid edema. No laser burn was placed within 300 microns of the center of the macula. The patients were followed for periods of 6 to 24 months with a mean follow-up of 15 months. Forty-five eyes presented with a branch vein occlusion. Photocoagulation resulted in the decrease or disappearance of macular edema in 42 of these eyes (93%) and the improvement of visual acuity by 0.2 or more in 12 (27%). Twenty-three eyes presented central vein occlusion. In these cases, photocoagulation resulted in the decrease or disappearance of macular edema in 20 eyes (87%), and visual acuity improved by 0.2 or more in 4 (17%). These results indicate that grid laser photocoagulation is an effective method, reducing persistent cystoid macular edema due to venous occlusion. However, visual results were better in the branch vein occlusions than in the central vein occlusions.

[The dye laser: experimental and clinical results in subretinal macular neovascularization]. / Laser à colorant: résultats expérimentaux et cliniques dans la néovascularisation sous-rétinienne rétro-fovéolaire.

The tunable dye laser provides now a large assortment of monochromatic wavelengths that allow selective targeting on individual tissues in the retina, according to in vitro studies showing extinction coefficient of ocular pigments (xanthophyllic pigment, rhodopsin, melanin, lipofuschin, hemoglobin) for different laser wavelengths. Confluent heavy and juxtafoveolar laser burns in eyes of cynomolgus monkeys showed, after 38 days, similar lesions in all the wavelength studied (green, red, yellow, orange) at the level of the choriocapillaris, Bruch's membrane, pigment epithelium and photoreceptor's layers. However, the inner retina layers were discretely more damaged with yellow and orange than with green and red. In clinical approach, the effects of these different wavelength haven been compared in human eyes presenting with subfoveol new vessels and disciform age-related macular degeneration. After healing, the scar was similar biomicroscopically, and on fluorescein angiography with all wavelengths studied (green, red, yellow, orange). In conclusion, dye laser seems to be efficient and easily tunable for photocoagulation in macular area.

[Eyelid localization of a Merkel cell tumor (trabecular carcinoma)]. / Localisation palpébrale de la tumeur á cellules de Merkel (carcinome trabéculaire).

The authors present four cases of Merkel cells tumor of the eyelid. These cases conform to the standard clinical and histological criteria specified in the dermatological literature. Immuno-histochemical studies have been performed (specific neuron enolase, cytokeratin KL 1). Il the last case an ultrastructural study has made evident the characteristic neurosecretory granulations and intermediate filaments. Various hypothesis concerning the origin of this tumor are discussed in light of anatomical evidence.

[Study of internal limiting membrane peeling in stage-3 and -4 idiopathic macular hole surgery]. / Etude de l'ablation de la limitante interne dans la chirurgie des trous maculaires idiopathiques de stade 3 et 4.

PURPOSE: To evaluate the advantages of peeling the internal limiting membrane (ILM) in macular hole surgery. PATIENTS AND METHODS: Retrospective analysis of the results of macular hole surgery, comparing two surgical protocols performed by the same surgeon. Both protocols included a standard pars plana vitrectomy with intravitreous nonexpansile gas and adjunction of autologous plasma over the macular hole. In addition, in the second group, the ILM of the eyes was systematically peeled after its coloring by indocyanine green (infracyanine) in the latter patients. RESULTS: We studied 39 eyes of 36 patients with stage-3 or -4 macular hole surgery. The duration of symptoms before surgery was on average 9 months. Twenty-one eyes (53.8%) underwent ILM peeling. Macular hole closure after one procedure was significantly more frequent postoperatively in the group of eyes with ILM peeling than in the other group (90% and 50%, respectively, p<0.01); after two procedures, macular hole closure reached 61% in the second group. The macular hole seemed to have disappeared on angiographic examination and on OCT in 90% of eyes with anatomical success in the group with ILM peeling and in only 22% of eyes with anatomical success in the group without. Visual acuity improved by two lines or more in 62% of eyes with ILM peeling and in 44% of eyes without. The difference in improvement in the macular threshold was statistically significant (p<0.001). CONCLUSION: This study would suggest that peeling of the ILM is an important adjuvant for successful closure of macular holes. Its possible mechanism of action is discussed. Further studies are needed to confirm these data by controlled randomized trial.

[Thrombotic microangiopathy and its ocular manifestations: an unusual complication of bone marrow graft]. / Micro-angiopathie thrombotique et ses manifestations ocularies: complication inhabituelle d'une greffe de moëlle osseuse.

The clinico-pathological aspect of an unusual case of thrombotic microangiopathy (M.A.T.) is reported in acute leukemia one year after bone marrow graft. The patient was first seen complaining of blurred vision in both eyes. Ocular findings included choriocapillaris and retinal vascular occlusions, resulting in bullous retinal detachments, massive retinal exudation and cystoid macular edema. The relationship between M.A.T. and bone marrow grafting is discussed with respect to the immunological disorders or graft-versus-host reaction and the role of irradiation.

[Experimental uveoretinitis induced in monkeys by retinal S antigen. Induction, histopathology (author's transl)]. / Uvéo-rétinite expérimentale induite par l'antigène S rétinien chez le singe. Induction, histopathologie.

S antigen was isolated from human and bovine retinas and purified by two chromatographic steps. Its purity was controlled by SDS-electrophoresis and immunodiffusion. Seven Cynomolgus monkeys received a single subcutaneous immunization with either 50 or 100 micrograms of human S antigen (5 animals) or 100 micrograms of bovine S antigen (2 animals) with complete Freund's adjuvant. All the monkeys had bilateral uveoretinitis and anti-"S" antibodies were found in their serum. The time course of the disease was followed clinically during one year and pathologic features were described at various time intervals. The disease includes prominent retinal vasculitis and granulomatous chorio-retinitis, with a chronic course, and leads after many months to almost complete destruction of the retina, with persistence of inflammatory infiltrates and pigment of cell migration.

[SPA-2: semiology for phenotyping AMD: atrophic AMD]. / SPA-2 : sémiologie du phénotype de la dégénérescence maculaire liée à l'âge : forme atrophique.

PURPOSE: The determination of homogeneous subgroups of age-related macular degeneration (AMD) is necessary for clinical and genetic studies; therefore, the development of a simple, reproducible, and discriminating classification is essential. In this second part of our study (SPA-2), we evaluated a selected list of items for atrophic AMD based on color photographs of fundus, red-free frames, autofluorescence, fluorescein angiography, indocyanine angiography, and Spectral-Domain OCT. METHODS: Ten items for atrophy were chosen from the literature and clinical experience. Twenty eyes of 20 patients with atrophic AMD were included. For each patient, the grid was completed by five independent, experienced readers from our reading center and by an expert. The Kappa coefficient was calculated for each item. RESULTS: The greatest agreement between observers was found for the item "presence of atrophy" (Kappa=1). The worst concordance was recorded for the item "size of atrophy" (Kappa=-0.0286±0.0769 to 0.1813±0.0835). CONCLUSION: The classification of atrophic AMD is complex and currently not very consensual, hence the need for a discriminant and reproducible classification grid. The evaluation of our grid for atrophic AMD shows satisfactory agreement between observers for the majority of the items. Some modifications are proposed to make it more discriminant and reproducible.

[Fusobacterium nucleatum isolated from a patient presenting lachrymal canaliculitis]. / Fusobacterium nucleatum isolé chez un patient présentant une canaliculite.

A 68-year-old woman presented with a painless inflammation of the right superior eyelid that had started several weeks before. The clinical diagnosis concluded in canaliculitis and the solid concretions were surgically extracted from the superior canalicula. The anaerobic bacteria Fusobacterium nucleatum sp. nucleatum was isolated. Signs dramatically regressed two weeks after surgery followed by one course of oral amoxicillin and clavulanic acid associated with topical tobramycin. The clinical signs had disappeared two months later.

[Contribution of in vivo confocal microscopy to diagnosis of invasive ocular surface squamous neoplasia: a case report]. / Apport de la microscopie confocale in vivo dans les formes invasives de néoplasie malpighienne de la surface oculaire: à propos d'un cas.

INTRODUCTION: Ocular surface squamous neoplasia (OSSN) is the most common conjunctival and limbic malignant tumor that could resemble a pterygium in the early phase of the disease. CASE REPORT: We report the case of a woman who presented with a limbic tumor of the left eye that was mistakenly diagnosed as a pterygium. An in vivo confocal microscopy examination using the HRTII Rostock Cornea Module and a surgical biopsy were performed. The in vivo confocal microscopy findings and the slit lamp examination showed characteristics that strongly supported the diagnosis of OSSN, and the histological examination of both biopsy and surgical exeresis (exenteration) confirmed the diagnosis of epidermoid carcinoma. CONCLUSION: This case report underlines the value of in vivo confocal microscopy in the diagnosis of OSSN, particularly epidermoid carcinoma. This device could be helpful for the early differential diagnosis with pterygium.

[Dye lasers: experimental histopathologic study of the effects of various wavelengths on the macular region]. / Laser à colorant: étude histopathologique expérimentale des effets des différentes longueurs d'onde dans la région maculaire.

Pathological experimental study of dye laser photocoagulation simulating the confluent treatment of subretinal new vessels in the macular area of a Macacas Cynomolgus monkey. 38 days after treatment the lesions become similar on the choriocapillaris and retinal pigment epithelium whatever the wavelength; the choriocapillaris is always occluded and the pigment epithelium destroyed. The internal limiting membrane is ondulated only with yellow and orange colors. These results are compared to those of similar experimental studies.