[Sickle-cell retinopathy: Retrospective study of 730 patients followed in a referral center]. / Rétinopathie drépanocytaire : analyse rétrospective portant sur 730 patients suivis dans un centre de référence.

INTRODUCTION: Sickle-cell disease is the most common genetic disease in the world, frequently complicated by potentially blinding retinal complications. The prevalence of sickle-cell retinopathy in patients followed in a referral center is presented in this study. PATIENTS AND METHODS: The prevalence of proliferative sickle-cell retinopathy by Goldberg classification was determined via a retrospective study of primarily adult SS and SC sickle-cell disease patients and AS sickle trait patients followed in a single referral center for a mean period of 13 years. All patients underwent slit lamp examination and complete fundus examination. RESULTS: Seven hundred and thirty patients (mean age 32.5±10 years), consisting of 492 SS patients (67.4%), 229 SC patients (31.4%) and nine AS patients (1.2%), were included in the study. 54.6% of SC patients and 18.1% of SS patients had grade 3 to 5 proliferative sickle-cell retinopathy. The prevalence of severe forms of sickle-cell retinopathy was higher among SS men than among SS women (21.7% versus 15.5% ; P<0.05). CONCLUSION: The high prevalence of sickle-cell retinopathy and the potentially severe complications associated with this disease justify screening and therapeutic management by a multidisciplinary team in the setting of a referral center.

Cuantificación de huevo en fideos secos según método electroforético (SDS PAGE) / Quantification of egg in dried noodles by electrophoretic methods (SDS PAGE)

El objetivo del trabajo fue utilizar la metodología SDS-PAGE para la cuantificación de huevo en fideos secos elaborados con harina y agregado de huevo. Se analizaron 6 sistemas modelos (SM) de fideos que contenían 0,0; 1,0; 2,5; 4,0; 6,0 y 8,0% de huevo en polvo. Se extrajeron proteínas totales con un buffer que contiene dodecilsulfato de sodio (SDS) y 2-Mercaptoetanol y se realizó electroforesis en gel de poliacrilamida con SDS. Se establecieron las relaciones de las áreas de los picos de los densitogramas (de huevo y de trigo) que permiten una correcta cuantificación del porcentaje de huevo agregado. Se analizaron 11 muestras comerciales en las cuales se realizó la cuantificación de huevo, obteniéndose valores comprendidos entre <1,0% y 8,8% de huevo en polvo. En los SM analizados y en las muestras comerciales se determinó además el contenido de colesterol (método enzimático) y el contenido de huevo por un método de ELISA. Los valores de colesterol en los SM se incrementaron con el aumento de huevo en polvo agregado, mientras que en las muestras se observaron valores bajos de colesterol para los niveles mas bajos de huevo y valores altos para los niveles mas altos de huevo. Con el método de ELISA se logró una correcta cuantificación de huevo en los SM hasta 4,0%, pero se obtuvieron resultados bajos en los sistemas mas altos (6,0 y 8,0%). Esto podría deberse a la importante dilución que debe realizarse de los extractos de las muestras para poder determinar su contenido. Con respecto a las muestras comerciales en 8 se obtuvieron valores similares a los de electroforesis mientras que en otras 3 los valores fueron diferentes. La metodología electroforética resulta una herramienta útil para la detección y la cuantificación de huevo en este tipo de muestras cuando se cuenta con SM de concentración de huevo en polvo conocida.

Retinal photocoagulation for proliferative sickle cell retinopathy: a prospective clinical trial with new sea fan classification.

PURPOSE: To compare the clinical outcome of stage III proliferative sickle cell retinopathy (PSR) treated by peripheral retinal scatter photocoagulation to natural course disease. METHODS: Long-term follow-up of 101 patients enrolled in a prospective trial of photocoagulation for PSR has been completed. Among 202 eyes of 101 patients enrolled at the University Eye Clinic of Créteil, 73 eyes showed a stage III PSR, which the authors further divided into five new grades (A, B, C, D, E) considering size, hemorrhage, fibrosis, and visible vessels. Grading was based on a three-mirror fundus examination, 360 degrees color photographs, and fluorescein angiography. Mean follow- up was 4 years. RESULTS: Thirty-eight treated eyes and 35 untreated eyes were included in this study. The evolution was not statistically significant between treated and untreated groups concerning flat sea fan <1 MPS disc area (grade A) or elevated sea fan with partial fibrosis (grade C). Progression and regression were compared between the two groups for grade B, resulting statistically significant (p<0.05). Nine complications (13%) were observed, which only occurred in untreated patients with elevated sea fan and hemorrhage (grade B) or complete fibrosed sea fan with well defined vessels (grade E) (p<0.05). CONCLUSIONS: These data suggest that patients with grade A or C new sea fan classification should not be initially treated but observed.

Usefulness of systematic ophthalmologic investigations in neurofibromatosis 1: a cross-sectional study of 211 patients.

PURPOSE: To evaluate the usefulness of ophthalmologic examination for diagnosis and for detection of complications in adult patients with neurofibromatosis 1. METHODS: PATIENTS with at least one criterion of neurofibromatosis 1 (excluding ophthalmologic criteria) seen at a referral centre had a systematic ophthalmologic examination including best-corrected visual acuity, slit-lamp examination and dilated funduscopy. The ophthalmologist was unaware of all other anamnestic data. PATIENTS: 211 patients with NF1 were included (mean age: 32 +/- 14 yr.). Ophthalmologic examination in neurofibromatosis 1 patients: Lisch nodules (n = 185) (87.7%); choroidal hamartomas (n = 61) (29%); enlarged corneal nerves (n = 1); 3 plexiform neurofibromas (n = 3); symptomatic optic pathway gliomas (n = 5). Diagnostic contribution of presence of Lisch nodules: 6 (3%) of 211 patients. Detection of complications: none. CONCLUSIONS: In adult patients with neurofibromatosis 1, the contribution of ophthalmologic examination to diagnosis and to the detection of complications is low. Ophthalmologic examination should be performed in patients for whom questioning and clinical examination failed to give evidence of NF1 or to determine the NF subtypes.

[Severe thyroid ophthalmopathy related to interferon alpha therapy]. / Ophtalmopathie de Basedow sévère liée à l'interféron alpha.

The authors report a case of a 49-year-old patient presenting with dysthyroid ophthalmopathy, who was treated with interferon alpha for chronic hepatitis C. Proptosis appeared 3 months after treatment onset and many complications occurred over more than 1 year. The extreme severity seen in this case is infrequent. After a summary of other ocular damage linked to interferon, the authors suggest that every interferon treatment include a check-up before beginning therapy and regular biological and ophthalmological monitoring.

[Choroidal neovascularization as a complication following laser treatment of central serous chorioretinopathy]. / Exérèse de néovaisseaux choroïdiens compliquant le traitement de la choriorétinopathie séreuse centrale.

We report the case of a 39-year old man who presented with central serous chorioretinopathy. Two months after diagnosis, argon laser photocoagulation was performed. One month later, the patient noticed distortion and a reduction in vision revealing a subretinal neovascularization above the fovea next to the laser scar. The patient underwent surgical extraction of the neovascular membrane and recovered a visual acuity of 20/30. This case report shows a complication of laser treatment of central serous chorioretinopathy and underlines the diagnostic difficulties of this disease and its treatment modalities. The surgical excision, the first reported in this etiology, led to good visual recovery, as is usually observed in young patients operated on for neovascular membrane.

Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy.

A 37-year-old man developed choreic movements of the limbs over a few months. His medical history included bilateral visual loss detected at the age of 9 and worsening at age 20. Visual field testing showed a central scotoma. Fundus examination showed atrophy of the optic disks and narrowing of vessels. The diagnosis of Leber hereditary optic neuropathy (LHON) was considered. There was no family history of visual loss or movement disorders. Blood lactate:pyruvate ratio was moderately elevated. Skeletal muscle biopsy was normal. Magnetic resonance imaging showed bilateral hypointense lesions on T1-weighted sequences in the subthalamic nuclei and in the lateral part of the substantia nigra. Linear hyperlucencies in the pyramidal tract facing the lateral part of the ruber nuclei were also demonstrated on T2-weighted sequences. Nine LHON-associated mutations were ruled out by RFLP analysis. Treatment with 250 mg coenzyme Q10 per day and multiple vitamins was initiated. Gradual recovery in movement disorders occurred over 1 year. Lactate to pyruvate ratio normalized. No change of visual function was observed. On magnetic resonance imaging performed 3 years later, lesions of the subthalamic nuclei almost completely disappeared. We think the patient might have an unusual, genetically uncharacterized mitochondrial disorder, combining optic neuropathy and chorea.

[Cataract surgery after bone marrow transplantation. Apropos of 36 cases]. / Chirurgie de la cataracte après greffe de moelle osseuse. A propos de 36 cas.

OBJECT: Bone marrow transplantation has improved the prognosis of haematological malignancies, but patients are consequently at considerable risk of developing ocular complications, such as cataracts. MATERIAL AND METHODS: A retrospective case study of 36 eyes (24 patients), with cataract extraction after the transplantation. Surgery was performed at a mean of 4.5 years after transplantation and the average age was 33 years at the time of surgery. The lens changes were all of the posterior subcapsular type. Surgery was indicated for symptoms of dazzling and glare; visual acuity was only moderately decreased (4/10, P6). RESULTS: Cataract surgery required specific measures such to "polish" the posterior lens capsule, since cataract changes were often very adherent. The surgery follow-up was uncomplicated with the exception of five eyes which had an inflammatory reaction (3 cyclitic membrans, 2 "pseudo-endophthalmitis") but which showed complete regression after treatement. The follow-up after surgery varied from 6 months to 4.5 years. Final visual outcome was improved. 82.5% achieved 8/10, and 96.8% achieved P2. Three YAG-laser capsulotomies were performed, mainly for posterior capsulofibrosis. COMMENTS: Cataract surgery after bone marrow transplantation appears to have a good prognosis. Posterior capsule "polishing", though difficult, is possible in most cases. In our study, secondary cataract appears to be less frequent, but, further long-term follow-up is needed to confirm this statement.

Photorefractive keratectomy in 176 eyes: one year follow-up.

Beginning in March 1992, 176 eyes from 176 patients underwent photorefractive keratectomy with the Summit Technology Eximed UV200LA. This study was designed to evaluate the efficacy of this method.

[Does hemangioblastoma exist outside von Hippel-Lindau disease?]. / L'hémangioblastome existe-t-il en dehors de la maladie de von Hippel-Lindau?

Hemangioblastoma may arise in isolation ("sporadic" cases) or as a major manifestation of von Hippel-Lindau (VHL) disease, an autosomal dominant disorder with a prevalence of at least 1/36,000. In addition of central nervous system hemangioblastomas (cerebellum, spinal cord and retina), affected patients may develop renal cysts or carcinomas, pheochromocytomas and pancreatic cysts. A multidisciplinary group including neurosurgeons, geneticists, pathologists and clinicians from all involved specialities has been organized to develop a national registration of all hemangioblastoma and VHL patients. The findings of a preliminary 10-year study (1983-1993) conducted in France are presented. Two hundred thirteen cases of hemangioblastoma were reviewed for their location and genetic features. The majority (77%) of the tumors were located in the cerebellum whereas 23% were located inside the spinal canal. By thorough clinical examination of the patients and systematic genetic inquiry of their family background, it was found that 34.3% of the total (58.7% before age 30) were afflicted with VHL disease. Spinal hemangioblastomas were more often related to VHL disease than infra-tentorial locations (50% versus 36.6%). In addition, mean age at diagnosis in VHL disease was significantly younger than in sporadic cases (33.5 +/- 10 versus 43.6 +/- 15 years). Recent progress in VHL molecular genetics led to the identification of the mutated gene to the distal part of the short arm of chromosome 3 (3p25-3p26), paving the way to presymptomatic diagnosis and, hopefully, to elucidation of pathogenesis, which may offer a further glimpse into tumorigenesis in general. Because of the usually early adulthood onset, accurate presymptomatic diagnosis of affected members would be of great benefit to VHL families. However, the fact that very few mutations in the VHL gene are identified precludes molecular diagnosis of "sporadic" hemangioblastomas. In summary, this study reveals that VHL-related hemangioblastoma is a more common clinical problem that it was previously reported. Thus, all patients with an apparently isolated central nervous system hemangioblastoma should be investigated for evidence of VHL disease.

[Surgery for moderate or mild myopia]. / Chirurgie de la myopie moyenne ou faible.

After a long period of hesitation and reluctance, surgery of moderate to mild myopia (1 to 6 dioptries) is currently practiced by specialists in refractive surgery. At present, two ambulatory techniques are in competition: radial keratotomy, a truly surgical procedure that is more than 10 years' old, and the much more recent photorefractive keratectomy performed with an excimer laser beam, which is still under evaluation but has a very promising future. The goal of these two techniques is to correct myopia by flattening the cornea. The degree of correction obtained depends on several variables (some of which can be mastered), which explains why the results are not fully predictable. However, the overall results are satisfactory, provided the indications have been strictly selected. Per- and postoperatory complications are extremely rare. The main risk is early under-correction (particularly when the initial myopia is pronounced) or late over correction, mainly observed with radial keratotomy. Visual rehabilitation is much slower with the laser technique than after radial keratotomy. The two techniques are applied to patients aged from 20 to 40 years who have stable myopia, do not tolerate contact lenses and need an excellent sight for their professional or sporting activities.

[Corneal crystalline deposits in benign monoclonal gammopathies. Apropos of 3 cases]. / Dépôts cornéens cristallins dans les gammapathies monoclonales "bénignes". A propos de 3 observations.

Unusual corneal crystalline opacities at the level of Bowman's membrane and superficial stroma were observed in 3 patients with benign monoclonal gammopathy. Corneal immunohistochemical examination showed that the deposits consisted of immunoglobulin crystals identical to the paraprotein found in the serum (with the same light chain: Kappa in 2 cases and Lambda in the third case). The factors and mechanisms governing intracorneal immunoglobulin deposition in the cornea are discussed.