1/26. Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changes: a possible new autosomal recessive disorder.A 20-year-old male is described with craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly and skeletal changes. On the basis of the clinical and radiological differences with syndromes previously described we classify the present case as a new faciothoracoskeletal syndrome. Parental consanguinity supports autosomal recessive inheritance.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
2/26. van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.We describe two Hispanic brothers born to unrelated parents with van den Ende-Gupta syndrome (VDEGS), a distinctive combination of characteristic dysmorphic features, skeletal abnormalities, and cerebellar hyperplasia. This syndrome was previously delineated by van den Ende et al. [1992: Am J Med Genet 42:467-469] and Gupta et al. [1995: J Med Genet 32:809-812], with additional reports by Phadke et al. [1998: Am J Med Genet 77:16-18] and Bistritzer et al. [1993: Clin Genet 44:15-19]. This is the fifth report of VDEGS, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting joint contractures, and distinctive skeletal findings. This report of affected siblings, and a previous report of double second cousins born to consanguineous parents [Bistritzer et al. [1993: Clin Genet 44:15-19]], suggests autosomal recessive inheritance. This brings to eight, the total number of reported cases, derived from six families, three of which are consanguineous. It is important to distinguish VDEGS from Marden-Walker syndrome (MWS) since both syndromes include blepharophimosis, arachnodactyly, and congenital contractures. Both syndromes are inherited in an autosomal recessive fashion, but VDEGS lacks severe mental retardation, serious brain malformations, microcephaly, failure to thrive, and severe joint limitation, which are consistently present in MWS. Of particular importance, MWS may be associated with cerebellar malformations such as Dandy-Walker malformation, while the brothers reported herein with VDEGS both demonstrated distinctive cerebellar enlargement, a new finding for this disorder. While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as congenital contractural arachnodactyly (CCA) syndrome, characteristic facial features (blepharophimosis, narrow nose with ocular hypertelorism, prominent ears, and everted lower lip), distinguish VDEGS from other syndromes associated with CCA, including CCA.- - - - - - - - - - ranking = 0.2keywords = ocular (Clic here for more details about this article) |
3/26. Chronic angle closure glaucoma secondary to frail zonular fibres and spherophakia.PURPOSE: We describe a 39-year-old Japanese woman with chronic angle closure glaucoma secondary to spherophakia and frail zonular fibres. The patient was 143 cm in height with short fingers and had no family history of eye problems. High intraocular pressure, total optic disc cupping and severe visual field constriction were found in the right eye. methods: The patient was treated successfully with trabeculectomy in the right eye and laser iridotomy in the left eye. CONCLUSION: The clinical findings imply that this was a borderline case of Weil-Marchesani syndrome.- - - - - - - - - - ranking = 0.2keywords = ocular (Clic here for more details about this article) |
4/26. Bilateral duane retraction syndrome associated with an extraordinary hand anomaly.duane retraction syndrome is an ocular motility disorder with which an increasing number of congenital abnormalities appear to be associated. In the present paper the authors report a case of bilateral duane retraction syndrome with an extraordinary hand abnormality. Numerous theories concerning the etiology and pathogenesis of duane retraction syndrome and its relationship to the associated findings have been proposed, but the exact mechanism is still under investigation. Further multi-centered studies and the classification of the associated clinical findings in an organized manner may help to explain this mechanism.- - - - - - - - - - ranking = 9397.267792292keywords = retraction syndrome, retraction, ocular (Clic here for more details about this article) |
5/26. Increased tear evaporation in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome.PURPOSE: To describe the tear function and ocular surface disorders in a patient with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. methods: Routine ophthalmic examinations were performed, including slit-lamp biomicroscopy, anterior segment photography including transillumination photos of the lids, Schirmer tests I and II, tear film break-up time (BUT) assessment, corneal fluorescein staining, DR-1 tear film lipid layer interferometry, and tear evaporation rate measurements. RESULTS: Slit-lamp examination revealed conjunctival hyperemia, superficial punctate keratopathy, and corneal leucoma with neovascularization. Although the Schirmer test values were within normal limits, the BUT value was 0 s in both eyes. transillumination of the lids showed the absence of meibomian glandular structures. DR-1 tear film lipid layer interferometry results were dry eye grade 5 with an irregular tear film, areas of corneal surface exposure, and several dry spots. The tear evaporation rate was elevated and was measured as 6.98 x 10(-7) g/cm2 per second (normal, 4.1 /- 1.4 x 10(-7) g/cm2 per second). CONCLUSION: The ocular surface disorder and shortened BUT in EEC syndrome were attributed to the absence of meibomian glands, leading to lipid layer deficiency in the tear film with a concomitant increase in tear evaporation.- - - - - - - - - - ranking = 0.4keywords = ocular (Clic here for more details about this article) |
6/26. Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family manifests a previously undescribed syndrome due to autosomal dominant or possibly x-linked inheritance with variable expression.- - - - - - - - - - ranking = 0.4keywords = ocular (Clic here for more details about this article) |
7/26. A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.BACKGROUND: Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/U) has not been reported to date. OBJECTIVE: To describe a new autosomal recessive syndrome of CFEOM and ulnar hand abnormalities, and localise the disease causing gene. methods: Clinical evaluation of the affected members and positional mapping. RESULTS: Six affected patients with CFEOM/U (aged 2 to 29 years) from a large consanguineous Turkish family were studied. Ophthalmological involvement was characterised by non-progressive restrictive ophthalmoplegia with blepharoptosis of the right eye. The postaxial oligodactyly/oligosyndactyly of the hands was more severe on the right side. A genome-wide scan established linkage of this new autosomal recessive syndrome to a locus on chromosome 21qter. The multipoint LOD score was 4.53 at microsatellite marker D21S1259, and fine mapping defined a approximately 1.5 Mb critical region between microsatellite marker D21S1897 and the telomere of the long arm. CONCLUSIONS: CFEOM/U maps to a 1.5 Mb region at chromosome 21qter. Future identification of the disease causing gene may provide insights into the development of the extraocular muscles and brain stem alpha motor neurones, as well as anteroposterior limb development.- - - - - - - - - - ranking = 1.2keywords = ocular (Clic here for more details about this article) |
8/26. Long-term complications of iris-claw phakic intraocular lens implantation in weill-marchesani syndrome.PURPOSE: This study was designed to report the long-term complications of iris-claw phakic intraocular lens implantation in a patient with weill-marchesani syndrome. methods: Case report and literature review. RESULTS: A 26-year-old man with a history of glaucoma had bilateral phakic lens implantation for high myopia 10 years previously. Two years later, the left implant dislocated and was repositioned. Slit-lamp examination of both eyes revealed phakic implants of the iris-claw variety. There were moderate iridocorneal adhesions in the areas in which the lens haptics pinched the iris in both eyes and moderate epithelial and stromal edema over the temporal one-third of the left cornea. The crystalline lenses were clear with 3 phacodonesis OU. Dilated fundus examinations revealed bilateral severe optic nerve cupping. Crystalline lens diameters were measured at 7.5mm in the right eye and 8 mm in the left. anterior chamber depths were 2.63 mm OD and 2.40 mm OS. Specular microscopy revealed central endothelial cell counts of 1133 and 587 cells/mm OD and OS, respectively. Axial lengths were 23.3 mm OD and 25 mm OS. Gonioscopic examination revealed bilateral angle closure with marked peripheral anterior synechiae. Based on our findings of short stature, shortened and thickened fingers, relatively normal axial length, microspherophakia, high myopia, and glaucoma, we diagnosed the patient with weill-marchesani syndrome. CONCLUSION: iris claw-lens phakic lenses may be an effective surgical alternative to correct high myopia in select patients; however, it may produce long-term complications in eyes with specific features.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
9/26. Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome.The Aarskog (facial-digital-genital) syndrome is an X-linked disorder in which short stature is accompanied by hypertelorism, digital anomalies, and shawl scrotum. Except for hypertelorism and blepharoptosis, ophthalmic abnormalities have been rarely noted in this condition. We examined four patients who had Aarskog syndrome and unilaterally or bilaterally decreased vision on initial examination. Three family members had V-pattern esotropia, latent nystagmus, inferior oblique overaction, and amblyopia. A fourth patient had bilateral blepharoptosis and severe astigmatism. Other ocular features included hyperopia, anisometropia, deficient ocular elevation, blue sclerae, and posterior embryotoxon. These findings underscore the need for ophthalmic examination in asymptomatic patients with Aarskog syndrome to rule out treatable causes of visual loss.- - - - - - - - - - ranking = 0.4keywords = ocular (Clic here for more details about this article) |
10/26. Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.The ocular and systemic abnormalities in a boy with ring chromosome 11 [46, XY/46, XY, r(11) (p 15.5 q25] are described. The ocular anomalies consisted of bilateral hypermetropia, microcornea, anterior chamber cleavage syndrome with prominent Wolfflin nodes, and cartwheel configuration of the anterior iris leaf. The systemic changes consisted of skeletal, muscular and articular defects, obesity, cryptorchidism, and mild mental retardation.- - - - - - - - - - ranking = 1.2keywords = ocular (Clic here for more details about this article) |
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