1/10. microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
2/10. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis.- - - - - - - - - - ranking = 0.14285714285714keywords = x (Clic here for more details about this article) |
3/10. walker-warburg syndrome: congenital neurodysplasia and bilateral retinal folds.A 2-month-old girl with a history of congenital hydrocephalus presented due to "wandering eyes." Initial eye examination at age 2 months showed response to light and a prominent retinal fold that extended through the macula and made contact with the posterior and inferior temporal lens capsule in each eye. Combined with the patient's neurologic findings, the results of the ocular examination led to the diagnosis of walker-warburg syndrome. During 5 years of follow-up, the patient developed progressive cataracts in both eyes but maintained ambulatory vision in the left eye. walker-warburg syndrome should be included in the differential diagnosis for pediatric patients with a history of prominent retinal folds.- - - - - - - - - - ranking = 0.42857142857143keywords = x (Clic here for more details about this article) |
4/10. Senior's syndrome (hereditary renal retinal dysplasia) associated with cataracts.Senior's syndrome includes nephronophthisis with retinitis pigmentosa. In our patient, there was a combination of bilateral retinitis pigmentosa, cataracts, nephronophthisis, osteomalacia, growth and mental retardation, arterial hypertension, and aortic insufficiency. This case was unusual because all the features of Senior's syndrome existed along with bilateral cataracts from childhood.- - - - - - - - - - ranking = 0.14285714285714keywords = x (Clic here for more details about this article) |
5/10. The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature.PURPOSE: We report ophthalmic manifestations in four Jacobsen syndrome cases, review the literature, and suggest phenotype-genotype correlations. methods: Chart review of Ocular genetics Program patients at The Hospital for Sick Children, Toronto, canada. RESULTS: Four del11qter cases are presented. hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, nasolacrimal duct obstruction, anomalous extraocular muscles, amblyopia, and microcornea were found. CONCLUSIONS: We report typical findings and novel ocular presentations. Visual prognosis is generally good. retinal dysplasia and coloboma seem associated with del11q23. ABCG4, NCAM, and Mfrp are candidate genes in this region that theoretically may be disrupted.- - - - - - - - - - ranking = 0.14285714285714keywords = x (Clic here for more details about this article) |
6/10. Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele.OBJECTIVE: To evaluate the clinical significance of V- or tongue-shaped infrapapillary retinochoroidal depigmentation in association with dysplastic optic discs. methods: Clinical data from all patients with V- or tongue-shaped infrapapillary retinochoroidal depigmentation and dysplastic optic discs were evaluated retrospectively. RESULTS: Five patients with this atypical colobomatous anomaly had transsphenoidal encephalocele. A sixth patient had an ectopic midline pharyngeal mass with no skull-base defect. CONCLUSION: In patients with optic disc dysplasias, the finding of this V- or tongue-shaped retinochoroidal pigmentary anomaly should prompt neuroimaging to look for transsphenoidal encephalocele.- - - - - - - - - - ranking = 0.14285714285714keywords = x (Clic here for more details about this article) |
7/10. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving rise to gliosis. A Jewish family of oriental origin was previously reported by Godel and Goodman, in which a total of five males suffer from different degrees of blindness. The authors postulated that the described findings are distinguished from Norrie disease, since in this case no clinical findings, other than those associated with the eyes, were noticed in the affected males. In addition, two of the carrier females exhibit minimal eye changes. We have performed linkage analysis of the family using the L1.28, p58-1 and m27 beta probes, and DXS426 and MAOB associated microsatellites. Our results map the gene responsible for the disorder between the MAOB and DXS426, m27 beta and p58-1 loci, on the short arm of the x chromosome at Xp11.3, which suggest the possibility that the same gene is responsible for both primary retinal dysplasia and Norrie disease.- - - - - - - - - - ranking = 0.14285714285714keywords = x (Clic here for more details about this article) |
8/10. On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association.We describe a male child with prenatal growth retardation, true microcephaly, pedal lymphoedema and characteristic ocular anomalies. Ophthalmological examination revealed remnants of the posterior hyaloidea, more pronounced in the right eye where a retinal fold extended from the papilla into the vitreum, chorioretinal dysplasia with narrow retinal vessels, multiple large round areas of chorioretinal atrophy and atrophic papillae. The associations "microcephaly-chorioretinal dysplasia", "microcephaly-retinal folds" and "microcephaly-lymphoedema" have been reported as separate autosomal dominant conditions. The findings in the present child suggest that these associations could be variable expressions of the same autosomal dominant condition.- - - - - - - - - - ranking = 0.42857142857143keywords = x (Clic here for more details about this article) |
9/10. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance.We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS). Our report extends the phenotypic spectrum of autosomal dominant CDMMS by describing microphthalmia for the first time in an autosomal dominant family. The boy was also severely mentally retarded in contrast to the usual mild mental retardation in AD-CDMMS. Furthermore he had hypertonia, dysmorphic features and low body weight, which are uncommon in AD-CDMMS. CDMMS is a rare disorder. We traced 18 reports on CDMMS including 10 families, 6 with horizontal transmission and 4 with vertical transmission. There are 8 reports and observations on isolated cases with CDMMS. This might imply genetic heterogeneity with autosomal recessive and autosomal dominant inheritance, with a more severe clinical picture in the former but with quite variable inter- and intrafamilial expression. A review of the literature is given. The existence of autosomal recessive inheritance in families with so-called horizontal transmission is discussed as variable expression, reduced penetrance and germline mosaicism may also explain this condition. Careful (particularly ophthalmologic) examination of first degree relatives is necessary before genetic counseling is given.- - - - - - - - - - ranking = 0.85714285714286keywords = x (Clic here for more details about this article) |
10/10. Bilateral macular dysplasia in fragile x syndrome.PURPOSE: Few studies have investigated the eye and vision dysfunctions of children with the fragile x syndrome. CASE REPORT: We report on a preschool boy with bilateral macular dysplasia and fragile x syndrome. His ocular features and phenotypic and genetic expressions are described. His mentally normal mother was identified as an expansion mutation carrier, and his older sister has learning disabilities, astigmatic refractive error, squint, and mild ptosis. Intrauterine infection has been excluded. CONCLUSION: To our knowledge, the association of macular dysplasia with fragile x syndrome has not been reported. The finding of macular dysplasia might be a coincidental developmental disorder and not a part of the syndrome. It could be considered a condition causing visual deficit with nystagmus in fragile x syndrome.- - - - - - - - - - ranking = 0.42857142857143keywords = x (Clic here for more details about this article) |
| | Next -> |