1/15. Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs.PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. methods: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/15. Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.PURPOSE: To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma) syndrome and relate these to a common cause. DESIGN: Observational case series and genetic study. PARTICIPANTS: Two unrelated probands presenting with absent central retinal vessels and 11 available family members. TESTING: Doppler ultrasonographic imaging of the optic nerves and kidneys, fluorescein angiography, and genetic testing for PAX2 mutations were performed. In selected cases, indocyanine green angiography, scanning laser ophthalmoscope perimetry, Retinal Thickness Analyzer measurements, visual evoked potentials, and magnetic resonance imaging were also performed. MAIN OUTCOME MEASURES: Better defined characteristics of the papillorenal syndrome. RESULTS: Numerous cilioretinal vessels were present with rudimentary or absent central retinal vessels. Superonasal visual field defects, typical for papillorenal syndrome, corresponded to inferotemporal areas of anomalous retinal and choroidal perfusion and hypoplastic retina. Renal hypoplasia was discovered in two affected members of one family (with previously unsuspected renal failure in one case), and recurrent pyelonephritis was discovered in four affected members of the other family. No PAX2 mutations were detected. CONCLUSIONS: In the papillorenal syndrome, the hereditary absence of central retinal vessels may be missed, leading to confusion with isolated coloboma, low-tension glaucoma, and morning glory anomaly. Greater awareness of this syndrome will avoid unneeded glaucoma therapy, allow earlier recognition of renal diseases, and allow genetic counseling. We propose that the papillorenal syndrome is a primary dysgenesis that causes vascular abnormalities predominantly affecting the eye, kidney, and urinary tract, leading to hypoplasia of these structures. The absence of defects in the PAX2 gene in these families suggests that mutations in other genes may also be responsible for this syndrome.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/15. Pseudodoubling of the optic disc: a colour Doppler imaging study.Pseudodoubling of the optic disc is a rare clinical presentation. In these cases it is necessary to exclude retinal coloboma or atrophy following vascular or infectious diseases. We present a case of pseudodoubling of the optic disc in a woman with type 2 diabetes and arterial hypertension. Ophthalmoscopic examination of the fundus showed a disc-like lesion in the right eye and a diabetic retinopathy in the left eye. The lesion was evaluated with fluorescein angiography, neuroradiological and colour Doppler imaging investigations. Colour Doppler imaging confirmed the angiographic findings of anomalous vascularisation of the pseudopapilla and provides an analysis of the choroidal vessel anastomosis between the optic disc and the retinal lesion, revealing that the pseudodoubling in this patient was the result of a chorioretinal coloboma.- - - - - - - - - - ranking = 0.25keywords = vessel (Clic here for more details about this article) |
4/15. Clinical ocular abnormalities in infants with trisomy 13.PURPOSE: Previous reports of ocular abnormalities associated with trisomy 13 have described pathologic abnormalities, with minimal descriptions of clinical findings. This report describes the clinical findings in four infants with trisomy 13. DESIGN: Retrospective noncomparative case series. methods: review of medical records of four infants with trisomy 13. One patient underwent cataract surgery and treatment of Coats disease. RESULTS: All four infants had inferonasal iris colobomas with unilateral inferonasal cataracts, primarily involving the posterior lens surface. Two patients had pigmented tissue associated with the cataracts. cataract surgery was performed in one of the patients with good results. This patient also developed a unilateral exudative retinal detachment with peripheral telangiectatic vessels. This resolved after treatment with cryotherapy. CONCLUSIONS: The cataracts in these infants with trisomy 13 had similar clinical features, which were different than those seen in other types of cataracts in infants. In addition, one patient had Coats disease, which has not been previously described in association with trisomy 13. The presence of inferonasal iris colobomas and adjacent sectoral cataracts in patients with other dysmorphic findings should prompt chromosomal analysis for trisomy 13.- - - - - - - - - - ranking = 0.25keywords = vessel (Clic here for more details about this article) |
5/15. Preserved vision in a case of morning glory syndrome: some pertinent questions.Morning glory syndrome, an unusual developmental anomaly of the optic nerve head, presenting with funnelled enlargement of the disc with a white dot in the centre and a peripheral vascular pattern along the disc margin, with features of typical entry and exit of retinal vessels on the optic nerve head and exceptionally good vision in the involved eye with old traumatic retinal detachment in the other, in a young Indian girl is described here for its rarity and indifferent clinical presentation. Various factors in its pathogenesis are postulated.- - - - - - - - - - ranking = 0.25keywords = vessel (Clic here for more details about this article) |
6/15. Autosomal dominantly inherited optic nerve coloboma.Four members of three consecutive generations of a family had congenital anomalies of the optic disk: deep excavation of the optic disk containing a mass of white glial tissue at its center, anomalous retinal vessels emerging from the peripheral aspect of the disk, and elevated annulus of peripapillary pigmentary disturbance. These optic disk anomalies occurred bilaterally with some inter- and intra-individual variable expressivity. Five of the eight affected eyes had profound visual loss, but three eyes showed normal vision. Two cases developed unilateral nonrhegmatogenous retinal detachment. There were no other ocular or systemic malformations. This family illustrates an instance of autosomal dominantly inherited optic nerve coloboma.- - - - - - - - - - ranking = 0.25keywords = vessel (Clic here for more details about this article) |
7/15. An unusual case of congenital unilateral Coats's disease associated with morning glory optic disc anomaly.We present the case of a 13-year-old girl with a right congenital esotropia who at the age of 6 months presented an anomaly of the optic disc and retinal vessels in the same eye. In the following year she developed Coats's disease, rubeosis iridis, and neovascular glaucoma that led to enucleation. Pathological examination confirmed the clinical diagnosis.- - - - - - - - - - ranking = 0.25keywords = vessel (Clic here for more details about this article) |
8/15. Transient visual obscurations with elevated optic discs.The pathogenesis of the transient obscurations of vision that occur with papilledema is a subject of speculation and debate. We present four examples of transient obscurations of vision that were clinically indistinguishable from those of papilledema; they occurred in patients with elevated optic discs from causes not related to increased intracranial pressure. The underlying mechanism for visual obscurations in all of these patients appear to be transient ischemia of the optic nerve head consequent to increased tissue pressure. Axonal swelling, intraneural masses, and increased influx of interstitial fluid may all contribute to increases in tissue pressure in the optic nerve head. The consequent reduction in perfusion pressure renders the small, low-pressure vessels that supply the optic nerve head vulnerable to compromise. Brief fluctuations in intracranial or systemic blood pressure may then result in transient loss of function in the eyes. We postulate that such mechanisms may apply in all cases of optic disc elevation, including papilledema.- - - - - - - - - - ranking = 0.25keywords = vessel (Clic here for more details about this article) |
9/15. Ocular manifestations of the fetal hydantoin syndrome.Eleven per cent of infants exposed to hydantoins in utero have a recognizable pattern of abnormalities with serious clinical consequences. This report of a child born to a mother taking diphenylhydantoin emphasized the ocular findings. At birth and subsequent 8-month exam, a girl was noted to have microphthalmus, prominent iris vessels, and an inferior iris and choroidal colobma. Relation of these anomalies to teratogenic properties of diphenylhydantoin is discussed.- - - - - - - - - - ranking = 0.25keywords = vessel (Clic here for more details about this article) |
10/15. Corectopia with nystagmus, absent foveal reflexes and corneal changes.A family is described with corectopia, nystagmus, absent foveal reflexes, and corneal changes inherited in an autosomal dominant pattern. Other abnormalities found in this family include microcornea, Bitot's spots, and iris colobomas. Faint superficial opacities and fine superficial vessels were found in the peripheral cornea of younger family members. Older family members showed an increase in the density of the superficial opacities and areas of stromal thinning were found in the 60-year-old proband. Corneal vessels and progression centrally. Full-thickness stromal opacities and changes have been associated with familial and sporadic aniridia and iris colobomas. The present report describes similar changes in association with corectopia.- - - - - - - - - - ranking = 0.5keywords = vessel (Clic here for more details about this article) |
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