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Biomedical subjects

H Zegarra

Publications and source records attributed to H Zegarra.

At least 19 recordsLinked to original sources

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.

We have defined a new genetic locus for an X linked form of retinitis pigmentosa (RP) on chromosome Xq28. We examined 15 members of a family in which RP appeared to be transmitted in an X linked manner. Ocular examinations were performed, and fundus photographs and electroretinograms were obtained for selected patients. Blood samples were obtained from all patients and an additional seven family members who were not given examinations. Visual acuity in four affected individuals ranged from 20/40 to 20/80+. Patients described the onset of night blindness and colour vision defects in the second decade of life, with the earliest at 13 years of age. Examined affected individuals had constricted visual fields and retinal findings compatible with RP. Based on full field electroretinography, cone function was more severely reduced than rod function. Female carriers had no ocular signs or symptoms and slightly reduced cone electroretinographic responses. Affected and non-affected family members were genotyped for 20 polymorphic markers on the X-chromosome spaced at 10 cM intervals. Genotyping data were analysed using GeneMapper software. Genotyping and linkage analyses identified significant linkage to markers DXS8061, DXS1073, and DXS1108 with two point LOD scores of 2.06, 2.17, and 2.20, respectively. Haplotype analysis revealed segregation of the disease phenotype with markers at Xq28.

Adolescent↗

Corticosteroid therapy for optic disc neovascularization secondary to chronic uveitis.

PURPOSE: To report successful corticosteroid treatment of optic disc neovascularization associated with uveitis. METHODS: Retrospective review of medical records. RESULTS: Nine patients were identified with chronic uveitis and optic disc neovascularization without clinical or angiographic evidence of retinal ischemia. Ages ranged from 14 to 37 years (median age, 27). All patients were treated with either oral and/or subtenon's corticosteroids. Partial regression of the neovascularization was observed in all patients within 2 to 6 weeks (median, 5 weeks) after initiating treatment. Eight of nine patients had complete resolution of disc neovascularization at a median of 3 months (range, 2 to 42 months) after initiation of treatment and a median follow-up of 24 months (range, 7 to 144 months). Recurrence of disc neovascularization occurred in two patients, but it regressed again after further corticosteroid therapy. CONCLUSIONS: Optic disc neovascularization may occur in patients with chronic uveitis in the absence of retinal ischemia. This neovascularization can be successfully treated with corticosteroids.

Administration, Oral↗

Central retinal vein occlusion in young adults (papillophlebitis).

We performed a retrospective study of 103 cases of central retinal vein occlusion (CRVO) in young, nondiabetic adults that were followed for at least six months. Of these patients, 64% were men and 36% were women. While visual acuity was usually good, 33 eyes (32%) had a final visual acuity of 20/200 or worse, including 6 eyes (6%) with a final visual acuity of no light perception. Ocular complications included chronic cystoid macular edema, macular pigmentary changes (37%), sheathing of retinal vessels (22%), venous collaterals of the disc (33%), macular hole formation (1%), neovascularization of the disc (1%), retina (1%), and iris (19%), neovascular glaucoma (8%), and vitreous hemorrhage (7%).

Adolescent↗

Retinal detachment as a complication of retrobulbar anesthesia.

The authors report an unusual case of retinal detachment after cataract surgery in a 48-year-old man in which it appeared that the retrobulbar needle passed through the sclera and tracked beneath the retina before perforating the retina superior to the disc. The cause of the detachment was not clearly defined until a depigmented line was observed after reattachment of the retina.

Anesthesia, Local↗

Reoperations and visual results after failed pneumatic retinopexy.

A single pneumatic retinopexy (PR) procedure failed to achieve permanent retinal reattachment in 23 (23%) of 101 cases of simple primary retinal detachment (RD). In 12 (16%) of 76 cases that were phakic or had an intact posterior capsule, a single PR failed compared with 11 (44%) of 25 cases without an intact posterior capsule. A total of 27 reoperations including eight repeat PRs (5 of which were successful) was required to achieve permanent retinal reattachment. Comparison of the final visual acuity and change from preoperative to final visual acuity between the initially failed and the successful cases demonstrated that initial failure of PR does not adversely affect the visual outcome. In all cases, the retina remained reattached at latest follow-up.

Analysis of Variance↗

Chronic macular detachment following pneumatic retinopexy.

In a consecutive series of 73 retinal detachments managed with pneumatic retinopexy, three (4.1%) of 73 eyes sustained chronic detachment of the posterior retina involving the macula even though all retinal breaks were closed. This shallow subretinal fluid persisted for 12 to 21 months but reabsorbed spontaneously. Two cases presented with a detached macula, one of which had pre-existing macular degeneration. The other case presented with an attached macula but it became detached immediately after pneumatic retinopexy. The visual acuities in the two patients who did not have macular pathology before the development of retinal detachment were 20/50 and 20/40 even with persistent subretinal fluid under the macula. In both cases the visual acuity improved to 20/30 after resolution of the subretinal fluid. Patients with a longstanding component to the retinal detachment and small retinal breaks may be at risk of developing chronic macular detachment following pneumatic retinopexy. Pockets of subretinal fluid can persist following scleral buckling, with or without drainage of subretinal fluid. However, it is unknown whether scleral buckling has a lower incidence of this complication than pneumatic retinopexy.

Aged↗

The management of retinal detachment complicating degenerative retinoschisis.

We repaired six retinal detachments complicating degenerative retinoschisis by using simultaneous external subretinal fluid drainage and intraocular gas injection without a scleral buckle or vitrectomy. The outer wall breaks were 30 to 135 degrees in size, and in three cases, extended close to the arcade vessels. We achieved retinal reattachment and collapse of the schisis cavity at surgery in all six cases. In one case, the retina redetached postoperatively, but it was repaired with a scleral buckle and gas injection. This technique simplified the management of retinal detachments complicating degenerative retinoschisis, particularly those with large or posterior outer-layer breaks.

Adult↗

Comparison of pneumatic retinopexy with alternative surgical techniques.

To determine the efficacy of pneumatic retinopexy, the authors conducted a retrospective study of 56 cases of uncomplicated retinal detachments (RDs) treated with this technique (follow-up, 6-18 months). These were compared with 28 similar cases treated with a Lincoff balloon and 78 similar cases treated with a scleral buckle. The long-term success rates for these three groups were 71, 64, and 96%, with the incidence of new breaks being 20, 18, and 1.3% respectively. In aphakic or pseudophakic patients with an absent or ruptured posterior capsule, the success rate for pneumatic retinopexy was only 43%. In phakic and aphakic patients with an intact posterior capsule, the success rate for pneumatic retinopexy improved to 81%. These data suggest that this technique is less effective in aphakic or pseudophakic patients with an absent or ruptured posterior capsule and that careful follow-up to detect new breaks is necessary in all cases. A prospective randomized study is needed to verify these data.

Air↗

Nanophthalmic uveal effusion.

A nanophthalmic patient with hypermetropia, shortened anterior-posterior axial length, and thickened choroid presented with a choroidal detachment and nonrhegmatogenous retinal detachment (NRRD). He underwent partial thickness, 5 x 7 mm, sclerectomies and 1-2 mm central sclerostomies 9.5 mm posterior to the limbus, specifically avoiding vortex veins. Complete resolution of the retinal and choroidal detachments occurred in spite of postoperative ultrasonograms demonstrating residual choroidal-scleral thickening. The effectiveness of this technique in our patient, in light of recent studies demonstrating histochemical and microscopic abnormalities in nanophthalmic sclera, suggests impairment of trans-scleral protein transport as the primary pathophysiologic mechanism in nanophthalmic uveal effusion.

Exudates and Transudates↗

Acute bilateral posterior angiopathy with influenza A viral infection.

We studied an unusual case of an acute bilateral posterior angiopathy with a secondary maculopathy and papillitis that resulted in a severe reduction of visual acuity which resolved spontaneously within several days. The clinical appearance and subsequent viral titers suggested influenza A as a specific cause.

Adult↗

Treatment of retinal detachments with multiple breaks by pneumatic retinopexy.

Pneumatic retinopexy is a recent innovation in the treatment of uncomplicated retinal detachments due to a superior retinal break extending for 30 degrees or less. We describe four patients with retinal detachments involving multiple breaks who were successfully treated by a modification of this technique. One case involved a calculation of the size of the gas bubble required to achieve tamponade of both breaks simultaneously. The gas was then administered in two sequential injections, as the volume was too large to be given in a single dose. In the remaining three cases, the gas bubble was rotated from the position of tamponade for one break into a position where tamponade of the second break or groups of breaks was achieved.

Adult↗

The management of subretinal gas following attempted pneumatic retinal reattachment.

Pneumatic retinopexy is a recently described procedure for treating retinal detachments with cryotherapy and intraocular gas injection, rather than scleral buckling. Prospective studies are underway to assess its safety and efficacy. One potential complication of this technique is persistent detachment due to subretinal gas. We report seven cases of subretinal gas following attempted pneumatic retinal reattachment. In all cases, multiple fish-egg gas bubbles were present following injection; some of these bubbles gained access to the subretinal space during the early postoperative period. The subretinal gas gave the detached retina a pearly, dome-shaped, refractive sheen. Three cases were managed by positioning the patients' heads to allow the subretinal gas to pass through the retinal break back into the vitreous cavity. One case underwent successful scleral buckling that closed the retinal break despite the presence of a small subretinal gas bubble. Three cases required vitrectomy, air-fluid exchange, and cryotherapy or endolaser treatment. In five of the seven eyes the retina was eventually reattached successfully.

Adult↗

Simultaneous external subretinal fluid drainage and intravitreal gas injection in nonvitrectomized eyes with a special 27-gauge needle.

In 12 patients with retinal detachment requiring a scleral buckle, simultaneous external subretinal fluid drainage, and intravitreal gas injection were performed to prevent "fishmouthed" retinal breaks in six patients and to achieve more complete drainage of subretinal fluid in six others with chronic inferior detachments. To simplify this technique in all of these nonvitrectomized eyes, we used a special 27-gauge needle sutured to the sclera.

Drainage↗

Multiple recurrent serosanguineous retinal pigment epithelial detachments in black women.

Three middle-aged black women suffered recurrent, multiple, bilateral, asymmetric, serosanguineous retinal pigment epithelial detachments. These involved the posterior fundus with resolution and recurrences producing subretinal hemorrhages, vitreous hemorrhages, retinal pigment epithelial pigmentary mottling, and chorioretinal scars. Fluorescein angiography showed evidence of choroidal neovascular membranes, choroidal serosanguineous leaks, or both. Ocular inflammation was not evident. Systemic laboratory tests were noncontributory. The clinical pattern was not characteristic of any other entity producing serosanguineous retinal pigment epithelial detachments. The origin remains to be defined.

Black People↗

Improvement in the retinal circulation after superficial temporal to middle cerebral artery bypass.

The retinal circulation of 35 patients (age, 30 to 71 years) with symptomatic internal carotid occlusion (22 cases) or severe inaccessible stenosis (13 cases) was studied both before and after superficial temporal to middle cerebral artery (STA-MCA) bypass surgery using ophthalmodynamometry (ODM) and intravenous fundus fluorescein angiography (IVFA). Ninety-four per cent of the patients were found preoperatively to have funduscopic findings or symptoms indicative of ocular ischemia. ODM values were abnormal preoperatively in 32 of 35 patients (91%), and improvement in ODM values for the ipsilateral eye was noted postoperatively in 25 patients (71%). ODM values obtained during the early (less than 3 months) and late (greater than 3 months) postoperative periods were significantly improved when compared to the preoperative values. IVFA values were abnormal in 25 of 29 patients (86%) preoperatively, and significant improvement was noted in 22 of 25 patients (88%) postoperatively. Preoperative patients with normal fundus examinations (10 cases) had significantly better values for IVFA and ODM than patients with venous stasis retinopathy. The findings of the study showed that STA-MCA anastomosis is beneficial in treating retinal ischemia secondary to ipsilateral severe inaccessible carotid artery stenosis or occlusion.

Adult↗

Macular edema secondary to occlusion of the retinal veins.

Occlusion of the central and branch retinal veins causes macular edema by provoking increased venous pressure which is transmitted to the perifoveal capillaries. Damage to the perifoveal capillary endothelium results in leakage with macular edema. The severity of the retinal findings (i.e., macular hemorrhages, macular edema, etc.) is determined by the location, completeness, duration, and evolution of the obstruction (i.e., recanalization of a thrombus). Spontaneous remission of macular edema secondary to either a partial central or branch occlusion carries a relative good visual prognosis. Chronic macular edema secondary to occlusion of either central or branch veins is associated with a relatively poor visual prognosis. In selected cases, paramacular photocoagulation can reverse chronic macular edema and result in visual improvement.

Fluorescein Angiography↗

The acute retinal necrosis syndrome. Possible herpes simplex retinitis.

The acute retinal necrosis (ARN) syndrome is a severe necrotic peripheral retinitis with vasculitis and vitritis. It attacks healthy people and carries a poor visual prognosis. Five patients with ARN were seen. Two showed interesting clinical features. One patient developed the ARN syndrome in both eyes but with a 14-year hiatus separating the two episodes, each being preceded by an infectious illness. A second patient had a possible recurrence of the ARN syndrome in the same eye, one year after the original episode. Each episode was preceded by an upper respiratory infection and ipsilateral vesicular skin lesions on the face. Biopsy of one lesion yielded herpes simplex virus (HSV) in culture. These associations, although not definitive, do lend support to the hypothesis that HSV may be the cause of the ARN syndrome.

Acute Disease↗