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.

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.

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.

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.

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.

Partial occlusion of the central retinal vein.

Twenty-three untreated patients (14 men and nine women ranging in age from 31 to 74 years) with partial occlusion of the central retinal vein were followed up prospectively for a minimum of 12 months. Seventeen had systemic vascular disease. At the conclusion of the study, 12 patients had visual acuities of 20/40 or better and eight had visual acuities of 20/100 or worse. Eleven patients had complete resolution of the retinopathy and had final visual acuities of 20/30 or better. Five eyes progressed to complete occlusion with final visual acuities of 20/300 or less. Seven eyes had chronic macular edema and visual acuities ranging from 20/40 to 20/200. One eye with background diabetic retinopathy developed optic disk neovascularization. None of the patients developed neovascular glaucoma.

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.

Sympathetic ophthalmia.

A 29-year-old woman developed severe ocular manifestations of sympathetic ophthalmia on the day after enucleation of a blind, painful eye, and four weeks after a penetrating ocular injury. She was observed for one year with fundus photography, fluorescein angiography, and electrophysiologic tests. Nystagmus, a rare systemic manifestation of sympathetic ophthalmia, was noted early in the course of her disease and was accompanied by vertigo, truncal ataxia, and cerebrospinal fluid pleocytosis. Enucleation and intensive corticosteroid treatment resolved the process; however, she has experienced recurrences in the two-year follow-up period.

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.

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.

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.

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.

Macular and paramacular detachment of the neurosensory retina associated with systemic diseases.

We have reviewed 168 cases of angiographically proved SRD of the macular region of unknown etiology that were seen at The Cleveland Clinic Foundation. Thirty-seven percent of these patients had documented coincident systemic diseases. Of that group, patients with autoimmune disease appeared to have ocular symptoms during the active phase of the systemic illness. Nine cases are reported characterizing the coincidence of exacerbation of systemic disease with recurrent serous detachment of the neurosensory retina. It is our hypothesis that in patients with autoimmune disease, the choroiditis is secondary to the damage caused by immune complexes. Thus, in these patients, SRD was a manifestation of the systemic illness.

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.

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.

The natural course of central retinal vein occlusion.

Thirty-five patients with central retinal vein occlusion had an extensive medical and laboratory evaluation to identify possible etiologic factors. We describe the natural course of the two forms of retinal venous occlusive disease, hemorrhagic retinopathy and venous stasis retinopathy, by observing a group of 25 untreated patients from one to eight years. Systemic vascular disease was most commonly associated with retinal venous occlusive disease. The visual prognosis is favorable in venous stasis retinopathy and extremely poor in hemorrhagic retinopathy. However, two of ten patients with venous stasis retinopathy developed hemorrhagic retinopathy with poor visual outcome.

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.

Silicone sponge implant in combination with episcleral implant for retinal detachment surgery.

The results of retinal detachment surgery performed in 50 patients utilizing a silicone sponge episcleral implant combination placed beneath an encircling band have been reviewed. Anatomical reattachment has been achieved in 48 (95%) procedures and complications associated with this technique have been infrequent. The modification described emphasizes the stability and permanency of the sponge episcleral implant combination placed beneath the encircling band without the placement of additional buckling or anchoring sutures. This procedure is used for the treatment of communicating radial folds and fishmouth tears in primary operations or reoperations.