Cases reported "Eye Diseases, Hereditary"

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1/59. Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous.

    PURPOSE: To report an unusual case of familial exudative vitreoretinopathy in an infant. methods: Case report. A 6-day-old girl had unilateral microphthalmia in the right eye, with a retrolental plaque initially diagnosed as persistent hyperplastic primary vitreous. Three months later, peripheral retinal vascular changes and a fibrovascular ridge were noted in the left eye, suggesting familial exudative vitreoretinopathy as the cause in both eyes. RESULTS: The microphthalmic right eye was unsalvageable. The left eye developed an exudative retinal detachment despite photocoagulation of the peripheral avascular retina. Additional cryotherapy resulted in resolution of the detachment and regression of the vascular changes. CONCLUSIONS: With highly asymmetric involvement, neonatal familial exudative vitreoretinopathy can mimic persistent hyperplastic primary vitreous. Fellow eye involvement can progress rapidly. ( info)

2/59. Fundus albipunctatus and other flecked retina syndromes.

    BACKGROUND: Several ophthalmic conditions manifest a flecked retina. Developing an understanding of their clinical presentations will enable the practitioner to most appropriately manage these conditions. CASE REPORT: A 27-year-old Middle Eastern woman manifested flecked retinas and nyctalopia. She had been given a diagnosis of retinitis punctata albescens, an inherited, progressive, night blindness; however, the medical history and clinical findings were not consistent with this disorder. Rather, they were consistent with fundus albipunctatus, an autosomal recessive, stationary, night blindness. The clinical presentation of fundus albipunctatus is characterized by discrete, white dots at the level of the retinal pigment epithelium and stable night blindness. A prolonged time for dark adaptation is required to produce normal amplitude electroretinograms in fundus albipunctatus as the result of a delay in the regeneration of rhodopsin. An electroretinogram administered after a prolonged dark adaptation time confirmed the diagnosis of stationary night blindness. CONCLUSION: In order to ensure an accurate diagnosis for fundus albipunctatus, it is important to be aware of the clinical characteristics and appropriate electroretinogram protocol for this disorder. ( info)

3/59. A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

    PURPOSE: To identify additional mutations in the ABCR gene and describe the clinical features of four affected siblings with autosomal recessive Stargardt disease. methods: A cohort of eight siblings was identified for study. Four of these individuals were diagnosed with Stargardt disease based on clinical evaluation and fluorescein angiography. blood samples were obtained from seven of eight siblings, including all those affected. All 50 exons of the ABCR gene were analyzed by single-stranded confirmation polymorphism analysis, followed by direct sequencing of observed variants, to identify mutations in the ABCR gene. RESULTS: We identified a previously unreported kindred of eight siblings, four of whom had mutations in both of their ABCR alleles. A previously described G-to-C transversion of nucleotide 2588, predicting a Gly863Ala amino acid substitution, and a novel G-to-A transition of nucleotide 161, resulting in a Cys54Tyr substitution, were identified. These mutations co-segregated with the affected members of this family. Three of the siblings demonstrated clinical features characteristic of classic Stargardt disease, with bilateral regions of macular atrophy associated with yellow-white "flavimaculatus" flecks in the posterior pole at the level of the retinal pigment epithelium. The fourth affected sibling showed features of early Stargardt disease, with a beaten-bronze appearance to both maculas, as well as perimacular flecks. In all four affected patients, fluorescein angiography showed a characteristic peripheral dark choroid. CONCLUSIONS: We have identified both a previously described and a novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. In-depth knowledge of the ABCR mutation spectrum in patients with Stargardt disease will provide for more efficient screening and may provide potential therapies for Stargardt disease and other retinal diseases. ( info)

4/59. Microstrabismus in monozygotic twins.

    PURPOSE: To report microesotropia in twins as a unique example of the role of heredity in primary microstrabismus. methods: Clinical records of the examinations of monozygotic twins with primary microstrabismus were reviewed. RESULT: Microstrabismus with different clinical findings was present in monozygotic twins. The family history and personal history of the patients were not significant. CONCLUSION: Microstrabismus can be seen as primary ocular motility problem without previous infantile esotropia or anisometropia. Genetic factors as well as intrauterine environment and developmental factors may affect sensorimotor development of the infant and cause ocular motility problems. Both twins should be examined for ocular motility disorders even in the absence of complaints. ( info)

5/59. Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.

    PURPOSE: To describe the clinical findings of a form of posterior polar cataract in a large Japanese family and to determine whether the posterior polar cataract is causally related to other autosomal dominant cataracts with known genes, chromosomal locations, or both. methods: Systemic and ocular histories were obtained and comprehensive ophthalmic examinations were performed in 15 of 37 members of the Japanese family. The posterior polar cataract was transmitted in an autosomal dominant manner through four generations. Although there is some variation in the degree of opacification, the posterior polar cataract in this family is characterized by progressive disk-shaped posterior subcapsular opacities. genetic linkage analysis was performed with 41 polymorphic microsatellite markers located in chromosomal regions known for linkage to cataracts. Genomic dna extracted from the 15 individuals was amplified by polymerase chain reaction, the genotype at the marker loci was determined in each family member, and the lod score was calculated at each locus. RESULTS: Significant linkage of the posterior polar cataract was ruled out from the following 10 loci or chromosomal regions: 16q22 and 1p36, to which two forms of autosomal dominant posterior polar cataract have been assigned: 1q21-q25, 2q33-q35, 13cen, 17p13, 17q11-q12, 17q24, 21q22, and 22q, which are the regions responsible for other autosomal dominant congenital cataracts. CONCLUSIONS: This study confirms the genetic heterogeneity of autosomal dominant posterior polar cataracts and demonstrates that the posterior polar cataract in this Japanese family is phenotypically and genetically distinct from previously mapped cataracts. ( info)

6/59. 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. ( info)

7/59. 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. ( info)

8/59. Familial cases with age-related macular degeneration.

    BACKGROUND: The pathogenesis of age-related macular degeneration (AMD) remains unknown. Genetic and environmental factors are thought to be associated with AMD. Although some studies have reported familial cases of AMD in the united states, as far as we know, familial cases of AMD have rarely been reported in japan. CASES: We describe three families with two members of each family affected with AMD and one family with three affected members. OBSERVATIONS: In one family, two siblings were affected with AMD with choroidal neovascularization and two other siblings had retinal pigment epithelial abnormalities or drusen of the maculas, suggesting the heterogeneity of the maculas in the family. However, the other families did not show such heterogeneity of the fundus. Among the four families, six of nine affected individuals had a smoking habit, a risk factor for AMD. CONCLUSIONS: These findings suggest that the development and progression of AMD might be associated with genetic factors and environmental factors. ( info)

9/59. Congenital corneal opacification in De Barsy syndrome.

    A newborn male was noted to have bilateral congenital corneal opacification. Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. Bilateral penetrating keratoplasties were performed; histopathologic examination revealed diffuse epithelial thickening, loss of the Bowman layer, and stromal attenuation with anterior stromal scarring. Special stains showed no deposition of abnormal material in the corneas. Electron microscopy demonstrated absence of Bowman layer differentiation with a paucity of collagen fibers, as well as extensive small elastic fibers in the anterior stroma. The diagnosis of De Barsy syndrome was made, a rare progeroid syndrome associated with characteristic ocular, facial, skeletal, dermatologic, and neurologic abnormalities. De Barsy syndrome should be included in the differential diagnosis of congenital corneal opacification; its distinctive clinical features enable the clinician to easily differentiate it from other causes of congenitally cloudy corneas. ( info)

10/59. retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.

    We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis. On ophthalmological examination of the index patient, a dense cataract and complete retinal detachment could be detected on the right eye. On the left eye, an absent lens nucleus was found, but no retinal detachment. On radiological examination, there was generalized moderate osteoporosis; the spine showed marked platyspondyly and the bone age was advanced. On laboratory investigations, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides could be found. The phenotypical spectrum observed in the 6 affected individuals was rather uniform. The karyotype was normal in all affected children. This hitherto undescribed combination of oculo-skeletal symptoms shows most resemblance with connective tissue disorders, suggesting a range of candidate genes for mutation analysis. ( info)
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