Watson and Crick's legacy and future publications in ophthalmic genetics.
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Genetics↗
Biomedical subjects
M F Goldberg
Publications and source records attributed to M F Goldberg.
Pilot trial of transscleral diode laser retinopexy in retinal detachment surgery.
OBJECTIVE: To evaluate the safety and efficacy of the transscleral diode laser for retinopexy in rhegmatogenous retinal detachments. DESIGN: Ten consecutive patients with primary rhegmatogenous retinal detachments underwent scleral buckling surgery, using the transscleral diode laser for retinopexy. Patients were followed up for at least 6 months. STUDY PARTICIPANTS: Ten patients with primary rhegmatogenous retinal detachments were enrolled. Patients with chronic detachments, a retinal break greater than 90 degrees, history of uveitis or infectious retinopathy, or proliferative vitreoretinopathy were excluded. MAIN OUTCOME MEASURE: Retinal reattachment. Secondary measures: visual acuity and complications, including choroidal, retinal, and vitreous hemorrhage, inflammation, and scleral damage. RESULTS: By 6 months, nine of 10 retinas were successfully repaired following only one operation. The retina of the 10th patient redetached at 6 1/2 weeks owing to proliferative vitreoretinopathy. Following a vitrectomy and retinal reattachment procedure, the retina of the 10th patient has remained attached for 1 year. No significant complications were encountered with the laser retinopexy, although small presumed breaks in Bruch's membrane occurred in three eyes and a moderate scleral thermal effect occurred in two. Visual results in the postoperative course were comparable to those achieved previously with cryotherapy. CONCLUSION: In this pilot series, transscleral diode laser retinopexy served as a safe and effective means of obtaining chorioretinal adhesion in retinal detachment surgery.
Adult↗
Dual-perspective analysis of vascular formations in sickle cell retinopathy.
OBJECTIVE: To examine the sickle cell retina in dual perspective (vascular patterns en bloc and structure in serial sections) to gain new insights into sickle cell retinopathy. METHODS: We analyzed the retinas of two patients with sickle cell disease (a 54-year-old patient with hemoglobin SC, heterozygous for the S and C mutation in the beta chain of the globin gene, and a 20-month-old patient with sickle cell anemia [SS], homozygous for the S mutation) using the previously described adenosine diphosphatase flat-embedding technique. RESULTS: The dual-perspective analysis afforded by our technique revealed that the primary site of occlusions was located at the precapillary level. An unusual neovascular formation, the hairpin loop, was observed in both patients' retinas and appeared to result from recanalization of the wall of an occluded vessel. Many autoinfarcted pre-retinal neovascular formations were observed in the older SC patient. Two patent preretinal formations were studied in detail and their evolution appeared to be influenced by mechanical factors. The vessels appeared to have been extruded from the retina, perhaps owing to hydrostatic pressure secondary to downstream occlusions. Small pigmented lesions consisting of retinal pigment epithelial cells ensheathing channels that resembled autoinfarcted vessels were found in the eye of the SC patient. CONCLUSIONS: This study illustrates unusual morphological features of intraretinal and preretinal neovascularization and of chorioretinal lesions in sickle cell retinopathy and suggests alternative mechanisms for their formation.
Adult↗
Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.
OBJECTIVE: Norrie's disease (ND) is a rare X-linked hereditary disorder characterized by congenital blindness. A putative gene for ND has been isolated and mapped to Xp11.3. Four point mutations in this gene have been identified recently in patients with ND, thus providing strong evidence that this gene is associated with the disease. We report a new mutation. DESIGN: Clinical findings from the proband were correlated with results from DNA analysis. The proband's DNA was compared with that from his mother, an unaffected brother, and four unrelated normal males. PATIENT: The proband was a male infant referred for ocular evaluation at 3 months of age. INTERVENTIONS: The patient was evaluated with a general ocular examination at 4 months of age, a computed tomographic scan at 8 months of age, and then periodic follow-up examinations over the next 7 years. Blood samples were also collected from the proband, his family, and four unrelated normal males. DNA was extracted, amplified using polymerase chain reactions, and then cloned and sequenced. RESULTS/CONCLUSIONS: We identified a new mutation at codon 128 of the ND gene, a dinucleotide GC-to-AA substitution that changed the normal codon for cysteine, TGC, to TAA, which is a stop codon. Thus, this patient lacks the last six amino acids of the carboxyl terminus of the ND protein. The normal ND protein has 11 cysteines in conserved positions that are proposed to be functionally significant. The mutation at codon 128 occurs at the 10th cysteine and might be expected to alter the function of the ND protein. Since the phenotype of this patient is similar to those of other patients with point mutations in the ND gene, this mutation is likely to be the molecular basis of the phenotype.
Amino Acid Sequence↗
Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome).
BACKGROUND: One of the largest series of patients with incontinentia pigmenti who have undergone detailed ophthalmologic examination is reported here, including previously unrecognized findings with visually disabling consequences. METHODS: Thirteen females with incontinentia pigmenti from eight unrelated families were evaluated. The diagnosis of incontinentia pigmenti had been established previously by a referring pediatrician or dermatologist in 12 patients and by the authors in one other patient on the basis of retinal findings and history of characteristic skin manifestations. RESULTS: Abnormalities of the eye, central nervous system, skeleton, teeth, and hair develop in a majority of patients. The authors describe the evolution of retinal vascular abnormalities, and, for the first time, document foveal hypoplasia (in 4 of their 13 patients). The authors also provide the first report of a child with a normal brain shown on computed tomographic scan at 3 days old, which evolved to devastating cerebral ischemia, edema, and cortical blindness beginning at 6 days old. CONCLUSIONS: Incontinentia pigmenti should be included in the differential diagnosis of patients with peripheral retinal vascular nonperfusion, preretinal neovascularization, infantile retinal detachment, or foveal hypoplasia, particularly if there is evidence of characteristic dermatologic or other systemic manifestations. In infants with incontinentia pigmenti, retinal vascular anomalies are best detected by examination under anesthesia using fluorescein angiography.
Adolescent↗
Ophthalmology.
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Acquired Immunodeficiency Syndrome↗
Choroidal neovascularization associated with choroidal hemangiomas.
Two patients with choroidal hemangiomas developed choroidal neovascularization. One patient with Sturge-Weber syndrome, a unilateral diffuse choroidal hemangioma, and a serous detachment of the macula was treated with yellow dye laser photocoagulation in a grid pattern to the tumor before glaucoma filtration surgery. Four years after successful laser treatment, the patient developed subfoveal choroidal neovascularization in an area of treatment. A second patient with a circumscribed choroidal hemangioma developed spontaneous subfoveal choroidal neovascularization 12 years after initial diagnosis of the hemangioma. The development of choroidal neovascularization associated with choroidal hemangiomas represents a potential cause of poor visual outcome in these patients.
Adolescent↗
Intraocular tissue plasminogen activator in a rabbit model of traumatic hyphema.
Tissue plasminogen activator was used to evaluate the clearance of traumatic hyphema in a rabbit model. A neodymium-YAG laser was used to disrupt iris vessels, creating a traumatic hyphema. Tissue plasminogen activator (1800 IU/0.1 mL) was injected into the anterior chamber 24 hours after creation of the hyphema. Two control groups (one receiving balanced salt solution and one receiving no treatment) were used for comparison. A multivariate analysis of covariance indicated that the greatest difference in hyphema clearance between the groups occurred at days 3, 4, and 5. Five days after tissue plasminogen activator treatment, the mean size of the clot remaining in the anterior chamber was 27% of that of the original hyphema. In control eyes, almost 60% of the original clot remained at day 5. Treatment of animals with tissue plasminogen activator doses of 5000 IU and 10,000 IU produced a substantial increase in repeated bleeding episodes in our rabbit model. We concluded that although the use of tissue plasminogen activator in our rabbit model of traumatic hyphema significantly improved clearance of blood from the anterior chamber, the remaining clot was of such size that the clinical benefit was questionable.
Animals↗
A randomized clinical trial of feeder vessel photocoagulation of sickle cell retinopathy. A long-term follow-up.
Long-term follow-up of patients enrolled in a randomized prospective trial of feeder vessel photocoagulation for proliferative sickle retinopathy has been completed. Of the 44 patients enrolled in Chicago, nearly a decade follow-up has been achieved on 29 patients (45 eyes). There were 20 control untreated eyes and 25 argon laser-treated eyes. Prolonged loss of visual acuity was rare in both groups. Argon laser photocoagulation has had a sustained effect on reducing the incidence of vitreous hemorrhage and visual loss from vitreous hemorrhage. Nine (45%) of 20 control eyes had vitreous hemorrhage, and it was recurrent in six (66%) of these nine eyes. A single episode was the only hemorrhagic event in the treated eyes. The laser-induced complications of choroidal neovascularization or retinal detachment were not associated with long-term visual sequelae. New sea fan evolution in 47% of study eyes suggests that these patients require long-term surveillance.
Adolescent↗
Aminocaproic acid versus prednisone for the treatment of traumatic hyphema. A randomized clinical trial.
One hundred twelve patients who sustained hyphema after blunt trauma were enrolled in a double-blind randomized clinical trial to determine the relative efficacies of aminocaproic acid (Amicar) and systemic prednisone for reducing the rate of secondary hemorrhage. Fifty-six patients received an oral dosage of 50 mg/kg of aminocaproic acid every 4 hours for 5 days, up to a maximum of 30 g daily, and 56 patients received an oral dosage of 40 mg of prednisone daily (adjusted for weight) in two divided doses. Placebo pills and liquids were given to each patient to mask the treatment schedules. There were no statistically significant differences between the patient populations for any demographic or clinical characteristic (e.g., visual acuity, intraocular pressure [IOP], initial hyphema size) measured in the study. Blacks comprised 53% of the study population, and the mean age of the patients was 23.5 years. Four patients in each of the treatment groups experienced a secondary hemorrhage; the rebleed rate was 7.1% in each group.
Administration, Oral↗
Improved method of fluorescein angioscopy.
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Fluorescein Angiography↗
Retinal arterial macroaneurysms: risk factors and natural history.
A case control study was conducted to identify the systemic and ocular risk factors for retinal arterial macroaneurysms. Forty-three patients with 52 photographically confirmed macroaneurysms were located. Forty-three age-matched, race-matched concurrent control patients were also identified. The patients with macroaneurysms had decreased visual acuity (p less than 0.0001) and a higher prevalence of hypertension (p = 0.037), female sex (p = 0.099), and retinal vein occlusions (p = 0.055) than controls. In patients with both a macroaneurysm and venous occlusion there was a 12.0 times higher prevalence of macroaneurysms in the area of retina drained by the occluded vein (p less than 0.05). Common findings associated with macroaneurysms included retinal haemorrhage (81% of patients), retinal exudate (70%), vitreous haemorrhage (30%), macular involvement (30%), and distal arteriolar narrowing (26%). Arteriolar occlusion occurred spontaneously (8%) or after laser photocoagulation (16%).
Adult↗
Sympathetic ophthalmia and subretinal neovascularization.
We report a case of sympathetic ophthalmia with subretinal neovascularization of the macula. The subretinal neovascularization developed after penetrating trauma to the fellow eye. The occurrence of subretinal neovascularization in sympathetic ophthalmia is not surprising since disintegrative changes and breaks in Bruch's membrane have been reported in sympathetic ophthalmia. Subretinal neovascularization has also been reported in Vogt-Koyanagi-Harada syndrome, which is histopathologically similar to sympathetic ophthalmia.
Adolescent↗
Herrick's 1910 case report of sickle cell anemia. The rest of the story.
James B. Herrick's 1910 article presenting the case of an anemic West Indian student with peculiar-shaped red blood cells was the first description of sickle cell anemia in Western medical literature. However, he told only part of the story. Records in Chicago, Washington, DC, and Grenada, West Indies, reveal more information about the events surrounding Herrick's discovery and help put them in historical perspective. Herrick's intern, Ernest E. Irons, abreast of the latest developments in medicine, actually performed the blood work and alerted Herrick about the odd-looking cells. Changing patterns in American race relations allowed the patient, Walter Clement Noel, to study dentistry in Chicago. He continued to receive care from Irons for 2 1/2 years, then returned to Grenada to practice dentistry. Noel died nine years after his return to Grenada, at age 32.
Anemia, Sickle Cell↗
Idiopathic sclerochoroidal calcification. Case report.
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Aged↗
The evolution of salmon-patch hemorrhages in sickle cell retinopathy.
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Anemia, Sickle Cell↗
Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina.
Autosomal dominant vitreoretinochoroidopathy (ADVIRC), a recently described disease, is clinically characterized by a slowly progressive or stationary circumferential peripheral pigmentary retinopathy with fibrillar condensation of the vitreous. Histopathologic study of an 88-year-old patient with this disease showed disorganization of the peripheral retina with focally atrophic retinal pigment epithelium (RPE). Altered pigment epithelial cells surrounded retinal blood vessels and lined the internal limiting membrane. At the equator, a remarkable and possibly unique multifocal loss of photoreceptor cells was seen. An extensive preretinal membrane, consisting of condensed vitreous with cellular debris and layers of Müller cells, was demonstrated by electron microscopic examination and immunohistochemistry. Histologically, this entity has some similarities to and some differences from retinitis pigmentosa. The clinical features are distinctive.
Aged↗
Magnetic resonance imaging versus computed tomography of leukocoric eyes and use of in vitro proton magnetic resonance spectroscopy of retinoblastoma.
To evaluate the usefulness of magnetic resonance imaging (MRI) in the evaluation of leukocoric eyes, the authors studied 28 patients with either leukocoria or intraocular mass with a 1.5-tesla (T) MRI imager. Retinoblastomas were reliably distinguished from Coats' disease, toxocariasis, and persistent hyperplastic primary vitreous on the basis of MRI findings. Calcification cannot be reliably detected on MRI scans. Lesions elevated less than 4 mm may not be detected reliably by MRI at this time. Computed tomography (CT) can detect calcification with a high degree of accuracy. Retinoblastomas appeared as moderately hyperintense masses on T1- and proton-weighted MRIs. They became hypointense in T2-weighted MRIs. This MRI characteristic is similar to that of uveal melanoma. Intraocular calcification in children especially younger than 3 years of age is highly suggestive of retinoblastoma. In the diagnosis of retinoblastoma, MRI is not as specific as CT because of its lack of sensitivity in detecting calcification. However, MRI, because of its superior contrast resolution, offers more information in the differentiation of pathologic intraocular conditions responsible for leukocoria. The authors also describe their preliminary work of in vitro proton magnetic resonance spectroscopy of eyes with retinoblastoma and an eye with uveal melanoma in an 18-year-old black woman.
Adolescent↗