[Hereditary retinal dystrophies. 2: Differential diagnosis].
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Adult↗
Biomedical subjects
U Kellner
Publications and source records attributed to U Kellner.
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
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Adult↗
Primary vitrectomy without scleral buckling for rhegmatogenous retinal detachment.
BACKGROUND: Pars planta vitrectomy has evolved as an alternative method in the treatment of more complicated rhegmatogenous retinal detachments. We report a series of patients who underwent primary vitrectomy with gas tamponade without the use of additional scleral buckling. METHODS: A retrospective study of 53 patients with a follow-up of 6-45 months (mean 17.8 months) was carried out. Preoperative findings included unusual, multiple or large breaks, vitreous haemorrhage, proliferative vitreoretinopathy and bullous retinal detachment. Preoperative visual acuity was between light perception and 1.0, with 30% (16/53) of patients with 0.4 or better. RESULTS: Retinal reattachment was achieved in 64% of cases (34/53) with one and in 92% (49/53) with one or more operations. Final visual acuity was between light perception and 1.0, with 41% (22/53) of patients with 0.4 or better. Cataract formation occurred in 86% (37/43) of all patients with a clear lens preoperatively. Macular pucker was noted in 11% (6/53) and postoperative proliferative vitreoretinopathy causing redetachment in 6% (3/53). CONCLUSION: With primary vitrectomy, a high final anatomical success rate with few intraoperative complications can be achieved in more complicated forms of rhegmatogenous retinal detachment. The major drawback of the procedure is the high incidence of post-operative cataract formation.
Adult↗
[Limits and possibilities of vitreous body surgery in diabetic retinopathy].
BACKGROUND: Several indications for vitreous surgery for complications of diabetic retinopathy have been established, but there is little well-founded information concerning situations in which visual prognosis is poor and vitreous surgery should not be performed. MATERIALS AND METHODS: The charts of 389 patients who had undergone vitreous surgery for complications of diabetic retinopathy between 1990 and 1994 were retrospectively reviewed. The minimum follow-up was 6 months with a median of 26 months. Using multivariate logistic regression analysis we studied factors which were correlated with a postoperative visual acuity of less than 5/200. A model was developed predicting the probability of an unfavorable visual outcome in various situations. RESULTS: Forty-five eyes (12%) had a best postoperative visual acuity of less than 5/200. Risk factors were detachment of the macula, extent of the detachment, iris neovascularisations and the duration of visual loss. For reoperations similar risk factors were found. The chance that an eye with total tractional retinal detachment of more than 6 months duration and with rubeosis of the iris will achieve a postoperative visual acuity of 5/200 or better is only 2%. CONCLUSIONS: Eyes with total tractional retinal detachment, especially with longer duration of the detachment and rubeosis, have a very poor chance of achieving useful vision and should not be operated.
Adult↗
[Phenocopies of hereditary retinal degenerations].
BACKGROUND: Phenocopies of retinal degenerations mimic the clinical signs of inherited retinal dystrophies. The purpose of this study is to discuss the difficulties of differential diagnosis. METHODS: Four patients were examined ophthalmologically and by standard electroretinography (ERG). RESULTS: (a) A 19-year-old woman presented with progressive visual loss, bone spicules, concentric narrowing of visual fields and extinguished ERG responses. At 3 years of age, she had developed a retinopathy induced by an infection with measles. (b) A 27-year-old man had bilateral visual loss, night blindness, pigmentary retinal changes, marked attenuation of visual fields and a reduced ERG. All signs of syphilitic retinopathy were regressive under antibiotic therapy. (c) A 59-year-old man showed a visual loss in the left eye, bilateral photophobia, color vision disturbances and a ring scotoma. Cone responses were nonrecordable in the ERG. A birdshot chorioretinopathy was suggested by ophthalmoscopic appearance and HLA typing. (d) A 40-year-old woman presented with paravenous pigmented retinochoroidal atrophy associated with Behcet disease. CONCLUSION: Systemic viral or bacterial inflammation as well as autoimmune disorders may present as phenocopies of hereditary retinal degenerations. A faulty diagnosis may have serious consequences, because necessary therapy may be withheld. Moreover, the misdiagnosis of a hereditary retinal degeneration may have severe effects on the psychic and social status of the patient.
Adult↗
Life expectancy of diabetic patients undergoing vitreous surgery.
BACKGROUND: Patients with advanced diabetic eye disease are commonly in poor general health. In addition to the ocular status, life expectancy is an important factor in the decision whether and how to perform vitreous surgery. The present study investigates mortality and risk factors for survival in diabetic patients following vitrectomy. METHODS: The follow up of 332 consecutive patients who underwent vitrectomy for complications of diabetic retinopathy between 1990 and 1994 was studied retrospectively. Survival and risk factors for survival were analysed using the Kaplan-Meier life table method and for multivariate analysis the Cox proportional hazard model. RESULTS: The 5 year survival rate was 68%. Absence of heart disease was the most important predicting factor for survival. Fifty per cent of the patients with heart disease had died within 3.5 years. Patients without heart disease had a 5 year survival rate of 90%. Other significant, independent risk factors were age and presence of nephropathy. CONCLUSION: In diabetic patients undergoing vitrectomy the presence of heart disease indicates a poor prognosis for survival. This should be taken into consideration for indications and strategies in cases of vitrectomy.
Adult↗
Retinopathy of prematurity in infants of birth weight > 2000 g after haemorrhagic shock at birth.
BACKGROUND: The risk of retinopathy of prematurity (ROP) is associated with low birth weight and low gestational age. For ROP screening examination is recommended in infants weighing < or = 1500 g or of less than 32 weeks' gestational age. METHODS: From 1991 ROP screening was performed in 452 premature infants with either a birth weight < or = 1500 g (n = 303) or a birth weight > 1500 g (n = 149) and who required additional oxygen supplementation or underwent surgery with general anaesthesia before estimated term. RESULTS: Unexpectedly, three infants with birth weights between 2080 and 2325 g and a gestational age of 32 or 33 weeks developed stage 2 or 3 ROP. One of these underwent cryocoagulation. In three infants, preterm birth was induced by sudden placental abruption with severe prenatal blood loss followed by haemorrhagic shock. The umbilical cord packed cell volume was reduced to 0.14-0.19 (normal 0.43-0.63). All three infants underwent surgery with general anaesthesia within the first weeks of life. Of the remaining 449 infants none with a birth weight > 1650 g developed any stage of ROP. CONCLUSION: Severe prenatal blood loss requiring blood transfusions and surgery with general anaesthesia may induce higher stages of ROP even in infants with birth weights exceeding the usual screening criteria.
Abruptio Placentae↗
Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.
PURPOSE: To describe the ocular phenotypes associated with 2 mutations in the Norrie disease gene including a manifesting carrier. METHODS: Ophthalmological examinations were performed in 2 affected males and one manifesting carrier. Genomic DNA was analyzed by direct sequencing of the Norrie disease gene. RESULTS: Family I: A 29-year-old male had the right eye enucleated at the age of 3 years. His left eye showed severe temporal dragging of the retina and central scars. Visual acuity was 20/300. DNA analysis revealed a C-to-T transition of the first nucleotide in codon 121 predicting the replacement of arginine-121 by tryptophan (R121W). Both the mother and maternal grandmother carry the same mutation in heterozygous form. Family 2: A 3-month-old boy presented with severe temporal dragging of the retina on both eyes and subsequently developed retinal detachment. Visual acuity was limited to light perception. His mother's left eye was amaurotic and phthitic. Her right eye showed severe retinal dragging, visual acuity was reduced to 20/60. DNA analysis revealed a T-to-A transversion of the third nucleotide in codon 126 creating a stop codon (C126X). The mother and maternal grandmother were carriers. CONCLUSION: Mutations in the Norrie disease gene can lead to retinal malformations of variable severity both in hemizygous males and manifesting carriers.
Adult↗
Falsely nonrecordable flash visual evoked cortical potentials in a diabetic eye with severe vitreous hemorrhage.
The examination of visual evoked cortical potentials (VECPs) prior to vitrectomy has been proposed for selection of patients with good chances for a favorable outcome following surgery. A missing single flash VECP has been considered a contraindication for further surgical treatment. A 64-year-old woman with proliferative diabetic retinopathy suffered from an intensive vitreous hemorrhage in one eye. Preoperatively, the flash VECP was nonrecordable. Intraoperatively, a dense vitreous hemorrhage and retrohyaloidal blood was found. The retina was attached. Postoperatively, the flash VECP was similar in both eyes with normal latencies. The visual acuity improved from light perception to 0.05. Severe vitreous hemorrhage may interfere with preoperative VECP recordings. A nonrecordable VECP has to be judged cautiously so as to prevent false-negative responses in eyes that could regain vision following vitrectomy and removal of the hemorrhage.
Diabetic Retinopathy↗
Cataract surgery and YAG-laser capsulotomy following vitrectomy for diabetic retinopathy.
The present study was initiated to assess time-course and risk factors for the development of cataract and posterior-capsule opacification as well as complications of cataract surgery and YAG-laser capsulotomy following vitrectomy for diabetic retinopathy. The charts of all patients undergoing vitrectomy for diabetic retinopathy during a 5-year period in a university eye hospital were retrospectively reviewed. The course of 306 consecutive eyes in which the lens was retained during vitrectomy was analyzed for subsequent cataract surgery and YAG-laser capsulotomy. The first 6 months after cataract or YAG-laser surgery were examined for the occurrence of complications. Data were analyzed with regard to the time course using Kaplan-Meier life-table analysis. The proportion of eyes that underwent cataract surgery after vitrectomy increased nearly linearly with time, approaching 75% after 5 years. Silicone tamponade (relative risk 1.9; P = 0.0005) and transscleral retinal cryotherapy (relative risk 1.4; P = 0.003) were risk factors for subsequent cataract surgery. No significant cataractogenous effect of intravitreal gas as compared with balanced salt solution was found. YAG-laser capsulotomy was performed in 60% of vitrectomized diabetic eyes within 2 years but in only 10% of nondiabetic controls (P < 0.0001). Within 6 months of extracapsular cataract surgery with implantation of an intraocular lens (IOL) in 54 eyes, no serious complication was observed. After YAG-laser capsulotomy, vitreous hemorrhage occurred within 6 months in 6 of 21 eyes. In conclusion, cataract surgery was performed in 75% of the phakic eyes within 5 years of vitrectomy for diabetic retinopathy. Posterior capsular opacification is particularly common in this subset of eyes. No serious complication was observed after extracapsular cataract surgery with IOL implantation, but YAG-laser capsulotomy was associated with an increased risk for vitreous hemorrhage.
Adult↗
Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.
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Adult↗
Severe course of cutaneous melanoma associated paraneoplastic retinopathy.
BACKGROUND: Melanoma associated retinopathy (MAR) is a paraneoplastic syndrome in metastatic cutaneous melanoma presenting with nightblindness, light sensations, mild visual loss, and reduced b-waves in the electroretinogram (ERG). METHODS: A patient with MAR was followed for a period of 25 months with repeated examinations including visual field testing and recording of standard electro-oculography, standard ERG, and photopic On and Off responses. RESULTS: A male patient with a very severe course of MAR is described. In addition to the clinical signs seen in previous patients, severe visual deterioration and vitreous inflammation were the predominant signs. The vitreous inflammation resolved after systemic corticosteroid therapy. Nightblindness and the reduced b-waves in the ERG remained unchanged during the follow up period. However, further visual deterioration and paracentral scotomas developed. Dark adaptation was markedly abnormal. Photopic On responses were reduced, but Off responses were preserved. Antibodies against retinal bipolar cells were isolated from blood samples of this patient. CONCLUSION: Vitreous inflammation may mask the diagnosis of MAR. ERG findings indicate that the more severe and progressive course is the result of local retinal changes and not progressive generalised retinal degeneration.
Adult↗
Bacterial endophthalmitis after anterior chamber paracentesis.
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Anterior Chamber↗
Selective cone dystrophy with protan genotype.
PURPOSE: To determine the functional defects in two male patients with progressive cone dystrophy and hybrid L-M cone pigment genes. METHODS: Clinical evaluation, standard electroretinography, and electrooculography were performed in two affected patients and two family members. Measurements of spectral sensitivity and transient tritanopia were made in both patients. RESULTS: In the patients, visual acuity varied between 20/50 and 20/100. The electroretinogram showed reduced flicker responses. When light adapted, a-wave amplitudes were borderline, but b-wave amplitudes were reduced severely. Electroretinography with chromatic stimuli showed a difference between well-preserved responses to green and markedly reduced responses to red stimuli. Spectral sensitivity measurement revealed a lack of L (long-wavelength sensitive; red) cone function and normal function of the S (short-wavelength sensitive; blue) and M (middle-wavelength sensitive; green) cones. Transient tritanopia was abnormal, indicating a severe disturbance of cone-cone interaction. CONCLUSIONS: Progressive cone dystrophy with predominant dysfunction of L cones exists in both patients. The cone dystrophy may be caused by a rearrangement of the X-chromosome pigment gene array that is associated with the deletion of L-cone sequences and the formation of hybrid L-M cone pigment genes. It cannot be excluded, however, that both patients have protanopia and that cone dystrophy developed because of other causes.
Adult↗
[Oxygen in the anterior chamber before and after cataract operation].
The purpose of the study was to investigate whether removal of the lens would change the physiology of oxygen supply to the anterior segment of the eye. Oxygen partial pressure in the anterior chamber was measured using oxygen-sensitive electrodes during cataract surgery or removal of after-cataracts in aphacic and pseudophacic eyes. We found significantly reduced oxygen tension in the anterior chamber of aphacic or pseudophacic eyes compared to cataractous eyes. These results could be explained either by a reduced barrier between aqueous humor and vitreous or by atrophic changes of the iris vasculature after cataract surgery. These changes in oxygen supply to the anterior chamber after cataract surgery could be clinically relevant in the eyes with ischemic diseases.
Aged↗
Natural course of retinal development in preterm infants without threshold retinopathy.
In a consecutive series, 209 preterm infants with birth weights below 1501 g or a gestational age of < or = 32 weeks were observed. Stage 3 retinopathy of prematurity (ROP) developed in 48 infants (23%) of between 32 and 46 weeks postconceptional age (PCA; mean, 37 weeks). Stage 3 ROP was not seen before 6 weeks after birth. Threshold ROP was seen and treated at between 34 and 42 weeks PCA (mean, 38 weeks PCA; n = 22, 10.5%). A subgroup of 126 untreated infants were followed until complete retinal vascularisation. At estimated term, 38.7% of eyes with vessels ending in zone 3 at the first examination showed complete vascularisation as compared with 17.6% of eyes with vessels ending in peripheral zone 2 and none of those with vessels ending in central zone 2. Occurrence of ROP delayed retinal development. At estimated term, no eye with any stage of ROP showed complete vascularisation as compared with 35.4% of eyes without ROP. Regression of stage 3 ROP below threshold started in all cases before 56 weeks PCA.
Cryosurgery↗
[Evaluation of published recommendations for screening studies of retinopathy of prematurity].
PURPOSE: Evaluation of different and partially contradictory guidelines for screening for retinopathy of prematurity published in Germany. PATIENTS: The data on 1219 preterm infants examined in Bern (n = 900) and Berlin (n = 319) were analyzed. A total of 680 preterm infants (56%) had a birth weight below 1500 g. The remaining infants were examined because oxygen had to be supplied or surgery done before or around the estimated delivery time. RESULTS: Stage 3 retinopathy was found in 88/1219 (7.2%) preterm infants. Only 5/88 infants weighed more than 1500 g at birth. Three of these infants had a birth weight below 2000 g and needed supplemental oxygen for a prolonged period of time. The other 2 infants had birth weights of more than 2000 g and were severely ill. Of 1219 preterm infants, 37 (3%) developed threshold retinopathy (according to the criteria of the multicenter trial); 35/37 infants weighed less than 1230 g at birth. The remaining 2 children (1650 g and 2185 g birth weight) were severely ill. CONCLUSIONS: Preterm infants should be screened for retinopathy of prematurity: (1) if the birth weight is below 1500 g; (2) if the birth weight is below 2000 g and oxygen supply was necessary for more than 30 days; (3) if infants are very sick or must undergo multiple surgery before term. The first examination should be scheduled for the 6th week postnatal and not before 31 weeks postmenstrual age.
Berlin↗
[Varicella zoster virus infections of the retina in patients with and without immune suppression].
BACKGROUND: Infections of the retina with the varicella-zoster virus can lead to severe visual impairment. Patients with immunodeficiency are particularly predisposed to viral infections, and the alterations of the immune system may lead to a modified clinical picture. PATIENTS: Two cases of infections of the retina with the varicella-zoster virus in an immunocompromised and an immunocompetent patient are presented. The first otherwise healthy patient showed the typical clinical picture of the "acute retinal necrosis syndrome" with orbital pain and decrease of vision. He had inflammatory infiltration of the vitreous and the anterior chamber, retinal vasculitis, optic disc edema and whitening of the peripheral retina with full thickness retinal necrosis. The second patient with AIDS presented with a history of sudden painless loss of vision in one eye. He had a swollen optic disc, inflammatory infiltrates in the choroid and virtually no cellular infiltration of the vitreous or the anterior chamber. The diagnosis of varicella-zoster virus infection of the retina was confirmed in both patients by polymerase chain-reaction of aqueous and vitreous humor, by determination of intraocular antibody titers and immunohistochemistry on retinal biopsy material, respectively. In both patients no inflammation in the fellow eye developed under therapy with aciclovir. The first patient regained full vision after vitrectomy with membrane dissection. CONCLUSIONS: Varicella-zoster virus infections of the retina can present with different clinical pictures in immunocompromised and immunocompetent patients. Early diagnosis and adequate medical and surgical therapy can significantly improve visual prognosis.
AIDS-Related Opportunistic Infections↗