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Biomedical subjects

K G Noble

Publications and source records attributed to K G Noble.

At least 19 recordsLinked to original sources
PubMed1990

Bilateral choroidal osteoma in three siblings.

Three siblings (a sister and two identical-twin brothers) had bilateral choroidal osteomas. The sister was seen at 11 years of age, and the tumor showed significant growth two years later. The twin brothers' tumors were diagnosed at 9 years of age, and their conditions remained stable over two years except for a new, isolated lesion that occurred in one eye of one brother. The siblings' mother had a yellow mottling situated nasal to the disk in each eye that was similar in appearance to that in one eye of one of the twins. She showed no evidence of calcium on ultrasonography. The appearance of osteomas in three siblings suggests a choristoma as the cause of this tumor.

Adolescent↗
PubMed1990

Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram.

We studied three members of three successive generations of a family with autosomal dominant congenital stationary night blindness and normal fundi. Psychophysical studies on two members showed normal final cone thresholds and mildly increased rod thresholds. Full-field electroretinograms on all three members showed normal photopic b-wave amplitudes and implicit times. Under scotopic conditions, the rod response was absent, and with a bright flash stimulus, there was a normal a-wave with no b-wave. This electronegative dark-adapted electroretinogram resembled the Schubert-Bornschein type seen in congenital stationary blindness, which has been seen only in autosomal and X-linked recessive pedigrees.

Adult↗
PubMed1989

Peripapillary (pericentral) pigmentary retinal degeneration.

Three patients with peripapillary (pericentral) pigmentary retinal degeneration described in 1978 were examined over a follow-up period of nine to 13 years. There was no extension of the geographic pigmentary abnormalities. The affected areas worsened as evidenced by an increase in pigment abnormalities, focal choroidal atrophy as seen on fluorescein angiography, and a diminution of the electroretinographic responses. One patient had increasing disabling symptoms of nyctalopia and poor peripheral and central vision, whereas the other two patients remained asymptomatic with excellent central vision.

Electroretinography↗
PubMed1989

Hereditary pigmented paravenous chorioretinal atrophy.

Three male siblings, born of nonconsanguineous parents, manifested the characteristic paravenous bone spicule accumulation typically seen in pigmented paravenous chorioretinal atrophy. The wide range of fundus appearances was apparent. The electroretinogram confirmed a localized dystrophy, and an abnormal electro-oculogram in the least affected brother suggested a more widespread abnormality. The onset of the disorder in all three brothers was early in life (possibly congenital), and there was minimal, if any, progression. The mode of inheritance could not be established. Because some mildly affected individuals will be asymptomatic and have minimal fundus abnormalities, it is important to examine all family members when considering the diagnosis of pigmented paravenous chorioretinal atrophy.

Adult↗
PubMed1989

Central pigmentary sheen dystrophy.

Three members from two successive generations demonstrated a bilateral, symmetric pigmentary maculopathy consisting of a diffuse yellowish sheen of the posterior pole. The visual acuity was variable (20/25 to 10/400) and visual function tests indicated a localized disorder. Historic information suggests the disorder is slowly progressive. On the basis of mode of inheritance, fundus and angiographic appearance, and visual function testing this appears to be a newly described disorder.

Adult↗
PubMed1989

The golden tapetal sheen reflex in retinal disease.

A mother and son with dominant cone dystrophy manifested the retinal reflexes seen in Oguchi's disease (mother) and the carrier female of X-linked retinitis pigmentosa (son). Another patient with cone dystrophy (simplex) showed localized areas of a golden reflex in each eye. A patient with juvenile macular dystrophy exhibited a diffuse golden-orange reflex throughout the posterior pole. The latter two patients did not have the Mizuo phenomenon.

Adult↗
PubMed1988

Progressive peripheral cone dysfunction.

A 22-year-old man had a three-year history of progressive day blindness, most notably peripherally, and denied difficulty with central vision or color vision. Visual function studies demonstrated a diffuse dysfunction of the photopic system and normal scotopic function. The central cone function, however, was essentially normal. Visual acuity was 20/20 in each eye, results on AO-HRR and Ishihara color plate testing were normal, color naming visual fields demonstrated color discrimination in the central 10 degrees, and foveal adaptation was normal.

Adult↗
PubMed1988

Optic pit, microphthalmos and orbital cyst.

An orbital cyst was discovered by ultrasonography behind the globe of the left eye in a five-year-old boy with a left esotropia. In addition, an optic pit was present in the optic nerve head of the same eye, which was microphthalmic relative to the right eye. Although orbital cyst has been reported in the literature, this case is of interest because of the presence of two congenital anomalies in the same eye - namely, optic pit and orbital cyst. These two conditions have never been previously reported as existing together in the same eye.

Child, Preschool↗
PubMed1987

Progressive cone dystrophy.

Psychophysical, reflectometric, and electrophysiologic studies were done on four members of a dominant pedigree with progressive cone dystrophy. The two youngest individuals were asymptomatic at the initial examination, and none of the subjects complained of problems associated with night vision. Nevertheless, absent or grossly reduced cone-mediated electroretinographic (ERG) responses showed the widespread loss of cone function, and moderate elevations (less than 1 log unit) in absolute threshold together with reductions in rhodopsin levels in the mid-peripheral retina provided evidence of impairment of the rod system. The progressive nature of the disease was apparent from the case histories and the changes in visual performance that occurred on re-test after a 5-year interval. Moreover, the results of increment threshold measurements at several retinal loci suggested that peripheral cones may be affected earlier and more severely than those in the central retina.

Adolescent↗
PubMed1987

Progressive cone dystrophy.

Psychophysical, reflectometric, and electrophysiological studies were performed on four members of a dominant pedigree with progressive cone dystrophy. The two youngest individuals were asymptomatic at the initial examination, and none of the subjects complained of problems associated with night vision. Absent or grossly reduced cone-mediated ERG responses revealed the widespread loss of cone function. Moderate elevations (1 log unit) in absolute threshold together with reductions in rhodopsin levels in the midperipheral retina provided evidence of a mild impairment of the rod system also, although not to the degree seen in a cone-rod dystrophy. The progressive nature of the disease was apparent from the case histories and the changes in visual performance that occurred on re-test after a 5-year interval. Likewise, the results of incremental threshold measurements at several retinal loci suggested that peripheral cones may be affected earlier and more severely than those in the central retina.

Adolescent↗
PubMed1986

Visual evoked potential (VEP) delays in central serous choroidopathy.

The authors examined a series of ten consecutive patients with unilateral, idiopathic central serous choroidopathy. Visual acuities ranged from 20/20 to 20/70 during the active stage. VEPs were recorded to square sizes of 14, 28, and 56 min of arc. Overall, 90% of the patients had statistically significant VEP delays from the affected eye, while only 30% had statistically significant reductions in amplitude during the active stage. Six of the ten patients were reevaluated after the condition fully resolved. In all six, the VEP latency returned to normal. Although the mechanism of these VEP delays is not clear, their presence has been well documented. Therefore, a VEP delay in isolation of other tests should not be used in the differential diagnosis of macular vs optic nerve disease. One should specifically rule out macular disease in any patient with a delayed VEP before presuming the presence of a visual pathway dysfunction.

Adult↗
PubMed1979

Stargardt's disease and fundus flavimaculatus.

A study of 67 patients with a diagnosis of Stargardt's disease (juvenile macular degeneration) or fundus flavimaculatus showed that, apart from the ophthalmoscopic appearance, there is no clear distinction between these two disorders. The disease is an autosomal recessive macular degeneration that is bilateral and symmetrical in appearance, with diminished central vision as the hallmark symptom. The onset of symptoms usually occurred in the first or second decade, but a substantial number of patients were asymptomatic until the fourth or fifth decade. Psychophysical and electrophysiologic tests indicated that this is a localized and not a generalized retinal dystrophy. While the initial vision in the better eye was 6/12 (20/40) or better in one third of the patients, follow-up studies showed progression to levels between 6/30 (20/100) and 6/60 (20/400).

Adolescent↗