A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.
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Eye Proteins↗
Biomedical subjects
J D Gass
Publications and source records attributed to J D Gass.
Acute annular outer retinopathy as a variant of acute zonal occult outer retinopathy.
PURPOSE: A 23-year-old man developed a rapid-onset, large, dense scotoma that was associated with a peculiar gray intraretinal ring corresponding to the edge of the scotoma and normal fluorescein angiographic findings. This disorder may represent a variant of acute zonal occult outer retinopathy. METHODS: We studied one patient by ophthalmoscopic examination and fluorescein angiography. RESULTS: The patient experienced a short period of concentric enlargement of the scotoma and narrowing of the retinal vessels within the ring, followed by stabilization of the scotoma and slow progressive depigmentation and intraretinal migration of the retinal pigment epithelium within the zone of visual loss. The cause of this disorder, which affects primarily the outer retina, was not determined. CONCLUSIONS: We speculate that this disorder is part of the spectrum of acute zonal occult outer retinopathy and that the gray border, which separates the normal from the abnormal retina, represents an immune ring phenomenon.
Acute Disease↗
Reappraisal of biomicroscopic classification of stages of development of a macular hole.
PURPOSE: To update the biomicroscopic classification and anatomic interpretations of the stages of development of age-related macular hole and provide explanations for the remarkable recovery of visual acuity that occurs in some patients after vitreous surgery. METHODS: Recent biomicroscopic observations of various stages of macular holes are used to postulate new anatomic explanations for these stages. RESULTS: Biomicroscopic observations include the following: (1) the change from a yellow spot (stage 1-A) to a yellow ring (stage 1-B) during the early stages of foveal detachment is unique to patients at risk of macular hole; (2) the prehole opacity with a small stage 2 hole may be larger than the hole diameter; and (3) the opacity resembling an operculum that accompanies macular holes is indistinguishable from a pseudo-operculum found in otherwise normal fellow eyes. CONCLUSIONS: The change from a yellow spot (stage 1-A) to a yellow ring (stage 1-B) is caused primarily by centrifugal displacement of retinal receptors after a dehiscence at the umbo. The hole may be hidden by semiopaque contracted prefoveolar vitreous cortex bridging the yellow ring (stage 1-B occult hole). Stage 1-B occult holes become manifest (stage 2 holes) either after early separation of the contracted prefoveolar vitreous cortex from the retina surrounding a small hole or as an eccentric can-opener-like tear in the contracted prefoveolar vitreous cortex, at the edge of larger stage 2 holes. Most prehole opacities probably contain no retinal receptors (pseudo-opercula). Surgical reattachment of the retina surrounding the hole and centripetal movement of the foveolar retina induced by gliosis may restore foveal anatomy and function to near normal.
Aging↗
Asymmetric canthaxanthin retinopathy.
PURPOSE/METHODS: We studied a case of crystalline retinopathy occurring after prolonged use of oral canthaxanthin. The patient was followed up for 38 months during which time she sustained a branch retinal vein occlusion in her left eye. RESULTS/CONCLUSIONS: An asymmetric appearance to the crystalline deposition was noted with increased sedimentation seen in the left eye. Vascular alterations after a branch retinal vein occlusion may lead to local stasis that may exacerbate the development of canthaxanthin retinopathy.
Canthaxanthin↗
Bilateral bullous exudative retinal detachment complicating idiopathic central serous chorioretinopathy during systemic corticosteroid therapy.
PURPOSE: To present evidence that systemic corticosteroid therapy may cause bilateral bullous serofibrinous exudative retinal detachment in some patients with idiopathic central serous chorioretinopathy. BACKGROUND: Idiopathic central serous chorioretinopathy usually causes mild, transient loss of central vision, usually in otherwise healthy men with a type A personality. A few patients have permanent visual loss because of chronic and recurrent retinal detachment. The clinical findings in these patients may lead to incorrect diagnoses and use of corticosteroid therapy. METHODS: The clinical and photographic records of three patients in whom bilateral bullous serofibrinous exudative retinal detachment associated with idiopathic central serous chorioretinopathy developed after treatment with systemic corticosteroids were reviewed. RESULTS: Systemic corticosteroid treatment was instituted (1) as a prophylaxis to prevent exacerbation of the disease while undergoing surgery in the fellow eye, and (2) as the result of misdiagnoses of multifocal choroiditis and retinal vasculitis (Eales disease). Two of the patients had a history of chronic recurrent retinal detachments before institution of corticosteroid treatment. In one of these patients, bilateral chronic inferior retinal detachment developed, causing peripheral retinal vascular nonperfusion, retinal neovascularization, and vitreous hemorrhage. All three patients had severe permanent visual loss in one or both eyes. CONCLUSION: The findings in these patients provide further evidence that systemic corticosteroid treatment may cause severe exacerbation of retinal detachment and lasting visual loss in some patients with idiopathic central serous retinopathy. Recognition of the atypical presentations of this disorder is important to avoid incorrect diagnoses and treatment.
Adrenal Cortex Hormones↗
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
BACKGROUND: Mutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy. The authors initially examined a large family affected with both peripheral and macular degeneration, inherited as an autosomal dominant trait. Screening for peripherin/RDS mutations identified a previously unreported nucleotide alteration in all of the affected individuals. Two additional families later were found to have this same mutation. METHODS: DNA samples from the members of three unrelated families were screened for peripherin/RDS mutations by denaturing gradient gel electrophoresis of the polymerase chain reaction-amplified peripherin/RDS coding sequences. The sequence change that was detected was further characterized by DNA sequencing. Family members were examined and evaluated with psychophysical and electrophysiologic methods. RESULTS: A proline to arginine mutation in codon 210 of peripherin/RDS was found in all clinically affected individuals. Macular changes included extensive geographic atrophy, pigment epithelial changes, and/or drusen. The proline to arginine mutation was not found among 100 healthy individuals, making it unlikely to be a nondisease-causing polymorphism. CONCLUSIONS: The authors identified a novel peripherin/RDS gene mutation associated with autosomal dominant retinal degeneration in patients from three different families. The largest family showed a broad variability in the expressivity of the mutation. The overlap of clinical features with those of age-related maculopathy highlights the need to consider photoreceptor-specific genes as potential factors in the etiology of the latter condition.
Adolescent↗
Biomicroscopic and histopathologic considerations regarding the feasibility of surgical excision of subfoveal neovascular membranes.
Surgical excision of subfoveal neovascular membranes may result in recovery of excellent visual acuity in patients with presumed ocular histoplasmosis but not in patients with age-related macular degeneration. To provide an explanation for this discrepancy, I analyzed the clinical and histopathologic findings in five patients with presumed ocular histoplasmosis. These findings provide evidence that the new vessels arising in the choroid in these patients usually grow within the subsensory retinal space and not in the subpigment epithelial space, as occurs in patients with age-related macular degeneration. In presumed ocular histoplasmosis, the new vessels are partly engulfed by a monolayer of proliferating retinal pigment epithelium. Surgical excision of this membrane permits reapproximation of the retinal receptors and native pigment epithelium and may be associated with remarkable return of visual acuity.
Adult↗
Biomicroscopic and histopathologic considerations regarding the feasibility of surgical excision of subfoveal neovascular membranes.
An understanding of the difference between the growth pattern of choroidal neovascularization within the subsensory retinal space, usually encountered in children and young adults, and that within the subpigment epithelial space, typically in older patients with age-related macular degeneration, is of fundamental importance in considering whether to surgically remove these subfoveal neovascular membranes. Their removal in young patients has some chance of restoring useful central visual function. Their removal in older patients will be associated with removal of the native pigment epithelium and little likelihood of restoration of function in the area of the membrane, unless some means are found to resurface the area with pigment epithelium.
Adult↗
Choroidal neovascularization associated with choroidal nevi.
OBJECTIVE: We undertook a retrospective study of all choroidal nevi with overlying neovascularization seen at Bascom Palmer Eye Institute, Miami, Fla, to determine long-term effects on vision and whether the presence of neovascularization represented increased malignant potential of the lesion. DESIGN: A computer search of patients with a coded diagnosis of both a choroidal nevus and choroidal neovascularization was performed. Cases in which the neovascularization was directly overlying the nevus were used for the study. RESULTS: The records of 23 patients followed up for a mean of 6.5 years were reviewed for visual acuity, effect of treatment, and change in the size of the choroidal lesion. Fifteen of the 23 patients had a final visual acuity in the affected eye of 20/200 or better. Five of six patients treated with laser had visual improvement of 2 or more lines. Only one of these lesions showed any growth, and this was after 17 years of no growth. CONCLUSIONS: Choroidal neovascularization associated with choroidal nevi can have profound effects on vision. Laser treatment, when indicated, is effective and may be safely performed. The clinical course of these lesions, to date, does not indicate any clinically significant malignant transformation.
Adult↗
Oral therapy in diffuse unilateral subacute neuroretinitis.
Diffuse unilateral subacute neuroretinitis is an endemic disease associated with severe visual loss in the southeastern and midwestern United States and the Caribbean. It is caused by a single nematode that may wander in the subretinal space for many months or years. Until recently, the only effective treatment has involved the difficult and time-consuming biomicroscopic detection of the worm followed by photocoagulation. This report describes the use of oral thiabendazole in four patients with presumed diffuse, unilateral, subacute neuroretinitis. Serial fundus photography was used to detect evidence of early destruction of the worm.
Administration, Oral↗
Diffuse unilateral subacute neuroretinitis in South America.
We describe two cases of diffuse unilateral subacute neuroretinitis in South America. These Brazilian patients presented with subretinal worms similar in size to those described in the southeastern United States. This is the first report, to our knowledge, of diffuse unilateral subacute neuroretinitis occurring outside the United States and Caribbean Islands.
Acute Disease↗
Solitary hypopigmented nevus of the retinal pigment epithelium in the macula.
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Child↗
Posterior chorioretinopathy and retinal detachment after organ transplantation.
Four patients, three after renal transplantation and one after heart-lung transplantation, developed visual loss in both eyes associated with geographic zones of disruption and coarse clumping of the pigment epithelium in the posterior fundi. Secondary retinal detachment occurred bilaterally in three patients. Localized choroidal intravascular coagulation is the suspected but unproven cause.
Adult↗
Bullous retinal detachment and multiple retinal pigment epithelial detachments in patients receiving hemodialysis.
Two patients receiving hemodialysis for chronic renal failure developed bilateral bullous retinal detachment associated with multiple underlying serous detachments of the pigment epithelium. Many of the detachments of the pigment epithelium were surrounded by subretinal whitish exudate that was probably fibrinous in type. There was fluorescein angiographic evidence of dehiscence of the pigment epithelium at the margin of some of the pigment epithelial detachments. Failure to recognize the nature of the retinal detachment in one patient resulted in an unsuccessful scleral buckling procedure.
Adult↗
Multifocal choroiditis and choroidal neovascularization associated with the multiple evanescent white dot and acute idiopathic blind spot enlargement syndrome.
BACKGROUND: Several recent articles have described syndromes in which there is enlargement of the blind spot associated with retinal lesions. These have included the multiple evanescent white dot syndrome, acute macular neuroretinopathy, acute idiopathic blind spot enlargement syndrome, and multifocal choroiditis or pseudo presumed ocular histoplasmosis syndrome (pseudo POHS). METHODS: The authors reviewed the records of seven patients in whom signs and symptoms of acute enlargement of the blind spot and pseudo POHS developed. RESULTS: All seven patients had photopsia accompanying enlargement of the blind spot during their illness. Four had transient white spots as seen in the multiple evanescent white dot syndrome. All presented with or developed chorioretinal scars or neovascularization similar to that seen in multifocal choroiditis or pseudo POHS. In four of the seven patients, POHS-like scars developed only in the eye that was symptomatic with blind spot enlargement and photopsia. Five of the 7 had visual acuity of 20/25 or better at the last follow-up. CONCLUSION: It would appear that there is an overlap in the clinical findings of all of these syndromes and that there may be a common link in their etiology.
Adult↗
Xanthic scotoma and yellow foveolar shadow caused by a pseudo-operculum after vitreofoveal separation.
The biomicroscopic detection of a small opacity (pseudo-operculum) suspended in front of the normal foveal retina is a sign of vitreofoveal separation. This report concerns five patients in whom slit-lamp illumination of the pseudo-operculum produced a yellow spot (shadow) on the adjacent pigment epithelium. This occurred in two patients who presented because of a small yellow central scotoma. In one patient, the yellow spot and scotoma disappeared after complete posterior vitreous separation. One patient presented because the referring physician misinterpreted the yellow spot as a Stage 1 impending macular hole.
Aged↗
Pars plana vitrectomy and direct diathermy for complications of multiple retinal angiomas.
A 16-year-old female had multiple retinal capillary angiomas, complicated by marked retinal and optic disc neovascularization, preretinal membranes, and retinal detachment in her right eye. Pars plana lensectomy, vitrectomy, fluid/gas exchange, direct transvitreal diathermy of the angiomas, endolaser scatter photocoagulation, and scleral buckling resulted in retinal reattachment and regression of the neovascularization. Although additional surgery was necessary for recurrent tractional retinal detachment, long-term retinal reattachment and stable vision was achieved following obliteration of all angiomas.
Adolescent↗
Sclerochoroidal calcification.
We studied 19 patients with sclerochoroidal calcification. The findings were bilateral in 16 patients and unilateral in the remaining three patients. The lesions, which were usually multifocal, had two characteristic appearances, plaque-like and tumorlike. Eleven patients had relatively flat, irregularly shaped, plaque-like, yellow-white lesions located between the arcades and the equator. Eight patients had more elevated tumorlike lesions, ranging up to 6 mm in height. All showed patterns on echography consistent with calcification. The calcification was often documented in both the choroid and sclera; sometimes it appeared only in the choroid, but never only in the sclera. Calcium metabolism appeared to be normal in all but two of the nine patients in whom it was investigated. Idiopathic sclerochoroidal calcification has a characteristic echographic and ophthalmoscopic appearance and may be more common than has been realized.
Aged↗