1/19. Focal retinal pigment epithelial dysplasia associated with fundus flavimaculatus. BACKGROUND: One or more focal dysplastic lesions of the retinal pigment epithelium (RPE) occurred in 15 eyes of 10 patients with fundus flavimaculatus. methods: review of patient records including an attempt to obtain follow-up information concerning a history of previous ocular trauma. RESULTS: Mild antecedent ocular trauma occurred to the eye with a dysplastic lesion in two patients. Dysplastic lesions were most frequently solitary and located temporal to the macula. Subretinal neovascularization accompanied two of the dysplastic lesions. The lesions were multifocal and present bilaterally in two patients. CONCLUSIONS: In fundus flavimaculatus, progressive lipofuscin storage is responsible for engorgement and hypertrophy of the RPE. Dysplastic lesions of the RPE probably result from reactive hyperplasia and fibrous metaplasia of RPE cells in response to acute disruption of fragile, hypertrophied RPE cells that may be enormously enlarged in the area of yellow flecks. This disruption may occur in response to trauma, focal inflammation, or other localized stimuli. patients with fundus flavimaculatus should be cautioned concerning the possible role of trauma in causing dysplastic changes in the RPE and visual loss. ( info) |
2/19. 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. ( info) |
3/19. 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. ( info) |
4/19. 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. ( info) |
5/19. 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. ( info) |
6/19. microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission has been observed supporting autosomal dominant inheritance. A characteristic facial phenotype has recently been suggested. We report three isolated male patients with this condition who have all of the major features and share a distinct facial appearance with upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, pointed chin and prominent ears. The clinical features in our patients support the hypothesis of a characteristic facial phenotype in this syndrome. ( info) |
7/19. Periventricular leukomalacia and retinopathy in a term infant born to a mother with asthma. A male child, born at 37 5 gestational weeks (GWs) (birthweight 2000g) after intrauterine growth retardation (IUG; -3 SD), to a mother treated during pregnancy for asthma, developed periventricular leukomalacia and retinopathy with total retinal detachment in the left eye and partial detachment in the right eye. Apart from basic asthma treatment with terbutalin, budesonid, and fenoterolhydrobromid throughout the pregnancy, she was treated with intravenous or oral cortisone for 6.5 weeks from 28 5 GWs. In addition she developed deep venous thrombosis at 29 GWs and was treated with heparin until delivery. Psychotic symptoms during the 31st GW were treated with diazepam, haloperidol, and levomepromazin. Functional sequelae for the child were visual impairment (visual acuity 5/60), uneven intellectual profile (Wechsler Pre-school and Primary Scale of intelligence, Verbal IQ 94 and Performance IQ 32 at 8y of age), and autistic-like behaviour. The possibility that pre- and perinatal risk factors (e.g. severe maternal illness, IUGR, and cortisone treatment) in a term infant may create conditions for developing eye and brain pathologies commonly closely related to preterm birth should be considered. ( info) |
8/19. 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. ( info) |
9/19. A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. A boy had the clinical features of congenital muscular dystrophy with a very mild mental deficit. A muscle biopsy at one year of age showed the typical findings of Fukuyama-type congenital muscular dystrophy, including selective loss of immunoreactions for alpha dystroglycan. magnetic resonance imaging showed no findings suggestive of migration disorders. The diagnosis of Fukuyama-type congenital muscular dystrophy was confirmed by a molecular assay at 8 years of age, and his haplotype analysis was heterozygous. At 9 years of age, his FIQ on the Wechsler Scale for Children revealed 69, while his IQ on the Tanaka Binnet scale of intelligence was 97. In this report the relationship between mild clinical condition of the studied case and its genotype is discussed. ( info) |
| retinal dysplasia is an uncommon condition and may be either unilateral or bilateral. It represents disturbed differentiation of neural ectoderm. It can be sporadic or may be associated with genetic defects. A case of unilateral retinal dysplasia in a 2 year old male child is reported. ( info) |