Cases reported "Eye Diseases, Hereditary"

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1/8. Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease.

    BACKGROUND AND PURPOSE: X-linked juvenile retinoschisis (RS) provides a starting point to define clinical paradigms and understand the limitations of diagnostic molecular testing. The RS phenotype is specific, but the broad severity range is clinically confusing. Molecular diagnostic testing obviates unnecessary examinations for boys at-risk and identifies carrier females who otherwise show no clinical signs. methods: The XLRS1 gene has 6 exons of 26-196 base-pair size. Each exon is amplified by a single polymerase chain reaction and then sequenced, starting with exons 4 through 6, which contain mutation "hot spots." RESULTS: The 6 XLRS1 exons are sequenced serially. If alterations are found, they are compared with mutations in our > 120 XLRS families and with the > 300 mutations reported worldwide. Point mutations, small deletions, or rearrangements are identified in nearly 90% of males with a clinical diagnosis of RS. XLRS1 has very few sequence polymorphisms. Carrier-state testing produces 1 of 3 results: (1) positive, in which the woman has the same mutation as an affected male relative or known in other RS families; (2) negative, in which she lacks the mutation of her affected male relative; and (3) uninformative, in which no known mutation is identified or no information exists about the familial mutation. CONCLUSIONS: Molecular RS screening is an effective diagnostic tool that complements the clinician's skills for early detection of at-risk males. Useful outcomes of carrier testing depend on several factors: (1) a male relative with a clear clinical diagnosis; (2) a well-defined inheritance pattern; (3) high disease penetrance; (4) size and organization of the gene; and (5) the types of disease-associated mutations. Ethical questions include molecular diagnostic testing of young at-risk females before the age of consent, the impact of this information on the emotional health of the patient and family, and issues of employability and insurance coverage.
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2/8. Optical coherence tomography in the study of the Goldmann-Favre syndrome.

    PURPOSE: To report a case of Goldmann-Favre syndrome with special emphasis on the optical coherence tomography findings. methods: In a 23-year-old white man with an 8-year history of visual impairment in both eyes and night blindness, vertical and horizontal optical coherence tomography images were obtained through the macula and through the retinoschisis located at the temporal side of the macula. RESULTS: Optical coherence tomography showed in the left eye a clear loss of the inner retinal layer at the fovea and the formation of inner and outer retinal layer holes in the temporally located retinoschisis. The outer retinal layer hole had rolled edges. CONCLUSION: In Goldmann-Favre syndrome, optical coherence tomography demonstrated confluent macular cystoid changes and retinoschisis in both eyes. In the left eye, a lamellar macular hole and retinoschisis with inner retinal layer and outer retinal layer holes were observed. The outer retinal layer hole had rolled edges.
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3/8. Goldmann-Favre vitreoretinal degeneration.

    PURPOSE: To describe a case of Goldmann-Favre vitreoretinal degeneration with typical clinical findings. methods: The case report of a healthy 47-year-old woman with typical clinical findings of Goldmann-Favre vitreoretinal degeneration is presented. She had complaints of reduced visual acuity and night blindness. Her parents were first cousins. RESULTS: Fundus examination revealed annular pigmentary degenerative changes, macular edema, and peripheral retinoschisis in both eyes. electroretinography results were abnormal. Optical coherence tomography scans revealed hyporeflective spaces in the macular area and irregularities of the chorioretinal complex in the degenerative pigmentary areas. CONCLUSIONS: Typical fundus findings combined with night blindness and electroretinogram abnormalities permited the diagnosis of Goldmann-Favre vitreoretinal degeneration.
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keywords = retinoschisis
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4/8. Histopathology of the ears, eyes, and brain in Norrie's disease (oculoacousticocerebral degeneration).

    Norrie's disease is an x-linked recessive disorder characterized by progressive oculoacousticocerebral degeneration. The light and electron microscopic changes in the temporal bones, eyes, and brain of an affected 77-year-old man who suffered from bilateral profound sensorineural hearing loss, blindness, and mental retardation are described. The inner ears showed marked atrophy of the stria vascularis, severe degeneration of hair cells and cochlear neurons, and connective tissue proliferation in the spiral ganglion, osseous spiral lamina, and walls of the membranous vestibular labyrinth. The eyes showed detached retinae, dense proliferation of fibrillary glial cells in the retina and vitreous, severe atrophy of the optic nerves, and degenerative hyalinization of blood vessels. This case is the first published report of the histopathology of the inner ear in Norrie's disease.
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keywords = x-linked
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5/8. A histopathological, ultrastructural and immunohistochemical study of congenital hereditary retinoschisis.

    OBJECTIVE: To confirm our earlier histopathological and electron microscopic findings in congenital hereditary retinoschisis (CHRS) in two additional globes and to further evaluate the nature and origin of the intraretinal filaments by means of immunohistochemical analysis. patients: Three white men with CHRS, aged 83 years (patient I) (two globes), 55 years (patient 2) (two globes) and 33 years (patient 3, nephew of patient 2) (one globe). OUTCOME MEASURES: Findings on histopathological study and electron microscopy (patient I) and immunohistochemical analysis (all five globes). RESULTS: Histopathological examination showed extensive extracellular deposition of amorphous material positive for periodic acid-Schiff reagent in the outer schisis layer and focally in the macula. Ultrastructurally, the amorphous material represented filaments measuring 8 to 12 nm in diameter within degenerated Muller cells, with accumulation of these filaments in adjacent extracellular spaces. Similar, less severe changes were seen in the superonasal retina. Immunohistochemical studies showed focal reactivity for glial fibrillary acidic protein (GFAP) in the retina adjacent to the schisis cavity in all five globes, focal reactivity for S-100 protein in four retinas, rare focal staining for vimentin and neurofilaments in two retinas each and no reactivity for type I keratin or actin. CONCLUSIONS: The present study corroborates our previous work and provides pathological evidence that the retinal disorder extends beyond the limits of the schisis. The results of the immunohistochemical analysis are consistent with a glial cell origin of the filaments. We postulate that defective Muller cells produce GFAP and possibly S-100 protein, which accumulate within the retina and secondarily result in degeneration of these cells and schisis formation.
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6/8. Exudative retinal detachment in X-linked retinoschisis.

    X-linked retinoschisis is a vitreoretinal dystrophy characterized by foveal and peripheral retinoschisis in the nerve fiber layer. Although many associated peripheral retinal findings have been reported, few reports have described massive exudative retinal detachments in patients with X-linked retinoschisis. The authors report the unusual occurrence of Coats'-like exudative retinopathy in two patients with X-linked retinoschisis. Both patients had peripheral massive exudative retinal detachments.
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keywords = retinoschisis
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7/8. A case of a combination of Oguchi's disease and congenital retinoschisis.

    We report here a rare case of a combination of Oguchi's disease and congenital retinoschisis. A 36-year-old male patient presented with a decrease in vision in both eyes and night blindness. Indirect ophthalmoscopy revealed bilateral macular stellate striations and golden-gray discoloration of the retina outside the vascular arcades. This discoloration turned to a normal retina after complete adaptation to darkness (Mizuo-Nakamura phenomenon).
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8/8. Optical cross-sectional imaging of the macula with the retinal thickness analyzer in X-linked retinoschisis.

    OBJECTIVE: To assess the morphologic characteristics of the foveal abnormality in juvenile X-linked retinoschisis using the scanning retinal thickness analyzer (RTA). This characteristic foveal abnormality is present in 83% to 100% of patients with X-linked retinoschisis and has not been demonstrated histopathologically. methods: The RTA is a noncontact imaging device. The RTA scans an obliquely oriented slit laser beam across the macula to obtain a series of optical cross sections, which are digitized. PARTICIPANTS: The RTA was used to examine 7 eyes of 5 patients with X-linked retinoschisis. RESULTS: The RTA demonstrated foveal schisis in all eyes examined. In 2 eyes of 2 patients, a single schisis cavity, with an inner leaf in a dome-shaped configuration, was present. In 4 eyes of 3 patients, a single schisis cavity containing fine strands was present. Some of these strands partially, and others completely, bridged the cavity. In 1 eye of 1 patient, 2 separate schisis cavities with bridging strands were present in the fovea. CONCLUSIONS: Scanning RTA is a noninvasive imaging modality capable of producing optical cross sections that demonstrate the extent and structural details of the foveal schisis in X-linked retinoschisis. Scanning RTA seems to be effective in the detection, characterization, and quantification of foveal schisis.
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keywords = retinoschisis
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