1/64. A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation.X-linked retinoschisis (XLRS) is a vitreoretinal disease responsible for most cases of juvenile macular degeneration in males. retinoschisis carrier females generally manifest no pathological symptoms. However, a large affected family from colombia presented three affected females with typical RS phenotype similar to their 27 affected male relatives. Fundus examination as well as electroretinograms (ERG) indicate that the disease in these three affected females is as severe as in their affected male counterparts. dna sequence analysis of the XLRS1 gene in the affected members of this family indicates a single base (G) deletion at the 639 base position (639delG). This deletion causes a frameshift during translation and results in a larger (235 amino acids) than normal peptide (224 amino acids) with grossly altered discoidin domain, which is considered critical for the cellular function of the protein. The co-segregation of this gene mutation with the RS phenotype and the RS carrier status as well as its complete absence in normal controls indicates that this genetic change is responsible for the RS pathology in this family. This (639delG) is a novel RS mutation and reported here for the first time. Furthermore, the analysis of the three affected females indicates that the RS pathology in affected females (a very rare occurrence) is due to XLRS1 mutations carried on both of their X chromosomes.- - - - - - - - - - ranking = 1keywords = macular degeneration, degeneration (Clic here for more details about this article) |
2/64. Clinical features of Goldmann-Favre syndrome.A 21-year-old woman complained of progressive loss of visual acuity. She had also had night blindness since she was ten years old. At the eye examination, the vitreous was found to be degenerated in both eyes. The fundus findings were a large retinoschisis in the right macula, edema resembling retinoschisis in the left macula and annular degenerative changes in the midperiphery. ERG and dark adaption were abnormal. This vitreoretinal degeneration was diagnosed as Goldmann-Favre syndrome.- - - - - - - - - - ranking = 0.031594097294949keywords = degeneration (Clic here for more details about this article) |
3/64. Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration.BACKGROUND: Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes microcephaly, severe mental retardation, and multiple congenital anomalies. Otologic findings are usually limited to descriptions of the auricles. PATIENT AND methods: The authors report inner ear histopathologic findings of a deceased 13-year-old patient with COFS. A histologic study of the inner ear in COFS syndrome has not yet been described. This patient was documented as having a profound bilateral sensorineural hearing loss at the age of 2 years. RESULTS: Histologic evaluation revealed accelerated neural and neuronal degeneration at the cochlear and retrocochlear levels. Remaining myelinated nerve fibers, counted in the spiral lamina, had degenerated by up to 97% when compared with normal innervation densities. Afferent nerve fibers innervating inner hair cells were completely absent, whereas medial efferent fibers to outer hair cells were found. vestibular nerve fibers were less affected. CONCLUSION: The authors report inner ear findings that differ from animal models of primary cochlear neural degeneration and that resemble the pattern of hereditary cochlear nerve degeneration reported in Friedreich's ataxia.- - - - - - - - - - ranking = 0.22115868106465keywords = degeneration (Clic here for more details about this article) |
4/64. Isolated familial hypomagnesaemia with novel neurological features: causal link or chance concurrence?We report a patient with isolated familial hypomagnesaemia with hypocalciuria, a rare congenital disorder of magnesium metabolism. During adolescence the patient developed neurological and ophthalmological features not hitherto reported in this condition, including seizures, myoclonus, and retinal pigmentary degeneration. These suggested the phenotype of mitochondrial disease, which has been occasionally reported in association with hypomagnesaemia, but subsequent investigations of mitochondrial function were normal. The pathogenesis of this unusual neurological and ophthalmological syndrome therefore remains uncertain.- - - - - - - - - - ranking = 0.031594097294949keywords = degeneration (Clic here for more details about this article) |
5/64. Ocular melanocytosis and melanoma.The hypothesis that ocular melanocytosis is a precancerous condition that may lead to a choroidal melanoma should be seriously questioned for the following reasons: The incidence of malignant degeneration in a hyperpigmented eye is unknown and overreported. If the hypothesis were correct a bilateral melanoma would occasionally occur in patients with bilateral melanosis. No such case has been reported. In patients with unilateral melanosis the blue, unaffected eye may also develop a melanoma. A 67-year-old white woman with one dark and one blue eye provided the first such instance, although previous cases may not have been reported if their histologic picture was not unusual. The incidence of melanoma in our patients with unilateral melanosis was rare compared with the many melanomas developing in normal pigmented eyes (4/418). I found no statistically significant difference in the incidence of choroidal melanomas originating in the hyperpigmented or in the blue eye in patients with unilateral ocular melanocytosis.- - - - - - - - - - ranking = 0.031594097294949keywords = degeneration (Clic here for more details about this article) |
6/64. Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning-fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria.- - - - - - - - - - ranking = 0.031594097294949keywords = degeneration (Clic here for more details about this article) |
7/64. A case of erosive vitreoretinopathy.Hereditary vitreoretinopathies are potentially blinding inherited disorders characterized by an abnormal-appearing vitreous gel and associated retinal changes. Four of these disorders, Stickler's syndrome, Wagner's disease, erosive vitreoretinopathy, and Goldmann-Favre syndrome, exhibit marked syneresis of the vitreous gel. Erosive vitreoretinopathy has associated retinal pigment epithelial changes, poor night vision, visual field defects, and abnormal electroretinographic findings; symptoms not found in Stickler's syndrome. A 36-year-old man with progressive visual loss and a visual field defect had no systemic disease. His vitreous cavity was liquefied. Vitreous strands and a cataract were found in both eyes. Pronounced RPE degeneration was found superotemporally in both eyes and a bullous rhegmatogenous retinal detachment in the left eye accompanied two retinal tears. His visual field showed a ring scotoma in both eyes and the ERG finding was abnormal. We report one case of erosive vitreoretinopathy with retinal pigment epithelial changes, rhegmatogenous retinal detachment, visual field defects, abnormal electroretinographic findings, marked vitreous syneresis and cataract. These symptoms are distinct from previously described entities.- - - - - - - - - - ranking = 0.031594097294949keywords = degeneration (Clic here for more details about this article) |
8/64. Optical complications in congenital rubella syndrome.BACKGROUND: Post-natal rubella (German measles) is a mild illness, occasionally complicated by arthritis or encephalitis. In contrast, in utero infection can have devastating effects. collectively known as congenital rubella syndrome (CRS). methods: Through the introduction of measles, mumps, and rubella (MMR) vaccination programs, the incidence of notifications and deaths from rubella have been reduced by 96%, to 0.4 per 100,000 births. However, CRS persists in patients who predate the commencement of these programs (c. 1969), as well as those not immunized and--rarely--in re-infection of the immune. The stigmata of CRS are widespread, encompassing neural, ocular, and systemic development, and manifest as a spectrum of involvement. RESULTS: In this report, we present a case of CRS, manifesting with both auditory and visual loss, including changes in visual acuity and visual fields. These losses were the result of bilateral pigment retinopathy and cataract, though the patient is also at risk for development of glaucoma. CONCLUSION: Management for ocular CRS is similar to that for age-related macular degeneration, including counseling, regular monitoring, and the provision of low vision devices, if required.- - - - - - - - - - ranking = 1keywords = macular degeneration, degeneration (Clic here for more details about this article) |
9/64. Menkes' kinky hair disease: a light and electron microscopic study of the eye.light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present among electron-dense inclusion bodies. Abnormal elastica is present in Bruch's membrane.- - - - - - - - - - ranking = 0.031594097294949keywords = degeneration (Clic here for more details about this article) |
10/64. Corneal degeneration after silicone oil tamponade in a photorefractive keratectomy treated eye.Three years after uneventful excimer laser photorefractive keratectomy in both eyes, a 34-year-old man sustained a perforating injury in the left eye. The severe injury, followed by endophthalmitis and retinal detachment, necessitated vitrectomy, lensectomy, and an internal tamponade with silicone oil. One month after the accident and operations, disk-shaped corneal edema corresponding to the laser treatment zone appeared. The edematous region showed a circular, ring-like epithelial thickening at the borders and central corneal epithelial erosion. The anterior stroma developed a central opacity that was separated by a clear rim from the developing silicone-oil keratopathy with the typical band shape.- - - - - - - - - - ranking = 0.1263763891798keywords = degeneration (Clic here for more details about this article) |
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