Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.

Usher syndrome is a group of autosomal recessive disorders associated with congenital sensorineural deafness and progressive visual loss due to retinitis pigmentosa. Sixteen members of the small inbred Samaritan isolate with autosomal recessive deafness were studied in 10 related sibships. DNA samples from 59 individuals including parents and affected and nonaffected sibs were typed for markers on chromosomes 1q and 11q for which linkage has recently been established for Usher syndrome types II and I.

Variable phenotypic expressivity of Best's vitelliform dystrophy.

Two families with Best's vitelliform macular dystrophy (BVMD) were investigated ophthalmoscopically and electrophysiologically. Pedigree examination confirmed the autosomal dominant heredity of this disorder with variable expressivity. Extrafoveal vitelline deposits were present in some asymptomatic patients, strongly suggesting that these deposits represent variable expressivity of familial BVMD.

Sudden blindness after thermocoagulation of the trigeminal ganglion.

Sudden blindness during percutaneous thermocoagulation of the gasserian ganglion occurred in a 72-year-old woman with trigeminal neuralgia. Considered a safe procedure, we highlight the possibility of this serious complication which was probably due to direct damage of the optic nerve.

Spectral electroretinography in thioridazine toxicity.

In three patients with thioridazine toxicity, the electroretinogram (ERG) to red light was found to be below the average normal range. A significant increase in its amplitude appeared with cessation of therapy in two cases. A further deterioration of the ERG amplitude to all stimulus conditions (white, blue, and red lights) occurred when the dose of the medication was increased in the third patient.

Late development of chorioretinal lesions in birdshot retinochoroidopathy.

The clinical manifestations of diffuse retinochoroidopathy after recurrent episodes of vitriitis led to the diagnosis of birdshot retinochoroidopathy in two patients in whom the initial lesions were cystoid macular edema and papillophlebitis. Although the onset and clinical characteristics of the early lesions varied, both patients had manifestations of chronic retinal vasculitis. We observed the late appearance and evolution of the characteristic cream-colored depigmented spots which were not present in the early stages of the disease.

Adenocarcinoma of retinal pigment epithelium.

This report describes a 41-year-old man with an intraocular tumour misinterpreted clinically as choroidal melanoma. The fluorescein angiographic features were not fully characteristic of uveal malignancy, and indeed histopathology revealed the diagnosis of adenocarcinoma of the retinal pigment epithelium. It is suggested that, in cases with the fundus and angiographic findings described here, the rare possibility of adenocarcinoma of retinal pigment epithelium should be kept in mind.

Hereditary vitelliform macular dystrophy.

Two families with vitelliform macular dystrophy were investigated ophthalmologically and genetically. The pedigree examination verified the usual expressivity. Macular pigmentary abnormalities or extramacular vitellin deposits were disclosed in some asymptomatic patients.

Computerized tomography in conditions concomitantly involving the orbits and the paranasal sinuses.

Forty-three patients with computerized tomographic (CT) findings demonstrating concomitant orbital and paranasal sinus involvement are presented. Exophthalmos was the most common presenting symptom. Ethmoid and maxillary sinuses were most commonly affected.

Best's vitelliform macular dystrophy.

We examined and evaluated the ophthalmological findings of 47 patients with Best's Vitelliform Macular Dystrophy (BVMD) and 5 cases suffering from related conditions to this macular disorder. Our sample re-confirm that BVMD is a progressive disease which may have several appearances in the course of its evolution. The heredity of this disorder is autosomal dominant with reduced penetrance and variable expressivity.

Cervico-oculo-acoustic syndrome.

A 12-year-old boy with the cervico-oculo-acoustic syndrome, which comprises Duane retraction syndrome, Klippel-Feil anomaly (fused cervical vertebrae) and congenital hearing loss, is described. To this classical triad an optic nerve head coloboma was associated. To the authors' knowledge this is the first case in which such an association has been recorded.

Glioma of the anterior optic pathways.

A 10-month-old girl presented with visual loss in the right eye associated with bilateral optic atrophy. The suggestive clinical diagnosis was an optic nerve glioma. The computerized tomographic findings were unusual in that symmetric bilateral involvement of the anterior visual pathways were present.

Ocular deficiencies in deaf children.

In a sample of 150 deaf children, 45.3% were found to present ocular anomalies interfering with good vision. This high frequency of visual impairment contributes to the low-level functioning and lack of normal developmental drives characteristic of deaf children.

A transconjunctival cryosurgical approach for intraorbital tumours.

A transconjunctival cryotechnique for the management of retrobulbar tumours is described. Fourteen retrobulbar tumours, evaluated by CT scan, were treated by this simple and minimally invasive operation. Patient's recovery is prompt and uneventful.

The concurrent application of ophthalmic drops.

The significance of the time interval between topical instillation of two different ocular preparations in 63 normal subjects was investigated. The experimental model selected was pupillary dilatation by mydriatic agents. The results indicated that two drugs applied at the "same time" had an equal effect to drugs applied 10 minutes apart.

Ocular congenital fibrosis syndrome.

The symptomatology of congenital fibrosis of extraocular muscles, markedly restricted eye movements, blepharoptosis and chin elevation were found in 10 individuals and three generations of one family. The mode of inheritance is compatible with a variable expressive dominant trait. Our experience with the surgical management of the condition using more aggressive procedures than currently employed is described.

Clinical variability in vitreoretinal degeneration.

Three families with a wide range of vitreoretinal degeneration, median cleft face syndrome and skeletal anomalies are described. Their autosomal dominant transmission and phenotypic spectrum are presented. In view of the similarity between these patients and the clinical overlap existing between them, it is assumed that they are all the same entity forming parts of a continuum.

Wagner's vitreoretinal degeneration with generalized epiphyseal dysplasia.

Wagner's vitreoretinal degeneration, midline facial defects and a moderate generalized epiphyseal dysplasia defined radiologically were encountered in a boy and his father. The familial nature of the condition and its autosomal dominant inheritance are described. Suggestions are made that patients said to have Wagner's disease differ in no way radiologically from cases diagnosed as having Stickler's syndrome.