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Biomedical subjects

R M Robb

Publications and source records attributed to R M Robb.

At least 19 recordsLinked to original sources
PubMed1993

Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency.

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.

Adolescent↗
PubMed1992

Brown's syndrome.

Explore the source record for details and available documents.

Cranial Nerve Diseases↗
PubMed1992

Outcome of treatment for bilateral congenital cataracts.

The outcome of treatment for bilateral congenital cataracts was studied retrospectively in a group of 51 patients. Two major categories of lens opacities were identified. In the first category, the opacities were extensive and visual impairment was evident early in the first year. These cataracts often occurred in eyes with small corneal diameters and poorly dilating pupils. Postoperative strabismus was nearly universal; nystagmus developed in over 50%; and late onset open-angle glaucoma developed in 8 of the 29 patients studied. Early surgery did not seem to abort the development of nystagmus in this group of patients. In the second category, the lens opacities were partial, often lamellar in configuration, and visual impairment was less severe. Surgery was usually performed after 3 years of age, with good visual results if the opacities were symmetrical and there was no nystagmus. No deprivation amblyopia developed in this group, even when surgery was delayed into the second decade. Strabismus developed postoperatively in about a third, but so far, no delayed open-angle glaucoma has been identified.

Adolescent↗
PubMed1990

Pinealoblastoma metastatic to the optic nerve.

We report a 10-year-old white girl who developed a pinealoblastoma 2 years before presenting to us with metastatic spread to the left optic nerve. She was treated for the original tumor with irradiation and chemotherapy. She presented to us with decreased vision in the left eye, unilateral disk edema, and diffuse left optic nerve swelling without increased intracranial pressure. Biopsy of the posterior optic nerve sheath was required for diagnosis. Vision was lost in the left eye, but the optic nerve swelling diminished after chemotherapy and additional radiation therapy.

Biopsy↗
PubMed1988

Ocular dermoids.

The following types of ocular dermoids were seen in a retrospective study of 50 children with these lesions: 34 epibulbar dermoids, 12 lipodermoids, and 4 dermoid cysts. Forty-six percent had hemifacial microsomia, and one-half of these had additional stigmata of the Goldenhar variant of the syndrome. Ninety-seven percent of the dermoids were found in the temporal half of the globe; of these, 76 percent were in the inferolateral quadrant, straddling the corneoscleral limbus. The majority of children had an oblique astigmatism in the involved eye. Epibulbar dermoids may be removed by careful superficial keratectomy, but caution should be exerted in excising lipodermoids because of the risks of affecting ocular motility and tear secretion.

Adolescent↗
PubMed1987

Special diagnostic and therapeutic modalities in pediatric ophthalmology.

Ophthalmology is a specialty rich in instrumentation used for special diagnostic and therapeutic functions. Many of these special modalities are appropriate to pediatric ophthalmology, and this article discusses them in summary fashion for those who may wish to know about the procedures but who may not be involved directly in their use.

Child↗
PubMed1986

Probing and irrigation for congenital nasolacrimal duct obstruction.

I reviewed the results of probing for congenital nasolacrimal duct obstruction in a series of 107 patients, with special reference to age at the time of probing. Relief of tearing and discharge was achieved in 90% of patients with the first probing, and an additional 6% were cured after a second probing. Altered nasolacrimal duct anatomy seemed to account for probing failures rather than any delay in probing. Primary probing continued to be an effective treatment well after 2 years of age and was successful in two 5-year-old patients. Unsuccessful probings were usually apparent at the time of the initial probing and were characterized by difficulty passing the probe and subsequent inability to irrigate saline through the nasolacrimal system into the nose. Dacryocystorhinostomy was an effective secondary procedure in the few patients in whom probing was unsuccessful.

Age Factors↗
PubMed1985

Regional changes in retinal pigment epithelial cell density during ocular development.

The density of retinal pigment epithelial (RPE) cells in various parts of the posterior segment of developing human eyes was examined. The material for study consisted of 19 autopsy eyes, ranging in age from the sixth gestational month to 6 postnatal years. Whereas RPE cell density gradually increased in the macular area up to 6 months of age, cell density dropped in all other areas of the posterior segment through the first 2 postnatal years. The decrease in cell density was especially marked near the ora serrata. Mitotic figures were rarely seen and only found in the eyes of preterm infants. The author concludes that the increase in total surface area of the RPE during the period studied is primarily accounted for by changes in the regional density of the existing cell population. A centripetal shifting of cells toward the macular area from more peripheral areas would account for the increasing density in the posterior pole.

Child↗
PubMed1984

Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.

A 33-month-old boy with an inborn error of vitamin B12 metabolism characterized by methylmalonic aciduria, homocystinuria, cystathioninuria , and hypomethioninemia had poor vision and a progressive retinal pigmentary degeneration. The child had early growth retardation with microcephaly, developmental delay, and a megaloblastic anemia. The retinal lesions were first noted when he was 1 year of age and, by ophthalmoscopy and by electroretinographic testing, have progressed. Treatment with hydroxocobalamin and L-methionine improved the anemia and the biochemical abnormalities but apparently did not halt the retinal degeneration. We believe the retinopathy is a feature of this disease, particularly in patients with infantile involvement. The retinal lesion may be caused by an unidentified abnormality of sulfur amino acid metabolism.

Amino Acid Metabolism, Inborn Errors↗
PubMed1984

Congenital anterior polar cataract: a review of 63 cases.

Sixty-three patients with congenital anterior polar cataracts seen over a period of 15 years at The Children's Hospital, Boston, were reviewed to determine their clinical course and visual outcome. Over one-third of the patients were found to have strabismus, refractive anisometropia, or some form of amblyopia. Seven other patients had additional ocular pathology which affected their visual prognosis. One patient manifested progressive lens opacification that eventually warranted cataract surgery. These findings suggest a less benign prognosis for congenital anterior polar cataracts than has generally been described. In our series early ophthalmological examination did not always allow us to forecast later visual disability. We therefore recommended regular follow-up of all children with anterior cataracts until a secure assessment of vision can be made.

Adolescent↗
PubMed1981

Spontaneous absorption of the lens in the congenital rubella syndrome.

Seven eyes in five patients with the congenital rubella syndrome have shown partial or complete absorption of a cataractous lens without surgical intervention. The rare occurrence of spontaneous lens absorption should not be a reason for delaying the early removal of dense bilateral cataracts in this condition.

Adolescent↗
PubMed1981

Development of myelin in human optic nerve and tract. A light and electron microscopic study.

The early development of myelin in human optic nerve and tract was studied in plastic-embedded material from post-mortem examinations of 18 infants and children. Specimens were examined by light and electron microscopy, and a good correlation was found between the data obtained by the two techniques. The characteristic lamellae of myelin were first seen around a few fibers of tract and intracranial optic nerve at 32 weeks of gestation. By term, these myelin sheaths had become thicker, and a majority of the nerve fibers had become myelinated. In the optic nerve near the globe, myelin was first seen at term and virtually all fibers were myelinated by 7 months of age. Significant increases in sheath thickness were seen in the first two years, and modest increases were found thereafter. These results are in agreement with earlier observations that, in the optic nerve, myelination proceeds from the brain toward the eye. The present data suggest that a significant amount of myelination in the human optic nerve occurs after a full-term (40-week) gestation, during a period of rapid postnatal visual development.

Adolescent↗
PubMed1981

Visual prognosis in patients with ruptures in Descemet's membrane due to forceps injuries.

Seven patients with Descemet's membrane ruptures associated with a forceps injury to the eye at birth were studied. A complete ophthalmological examination was done on each patient, and two patients had ultrasound measurements of the axial lengths of both eyes. We found that the ruptures in Descemet's membrane were single or multiple vertically oriented breaks associated with high astigmatism along the axis of the breaks and deep amblyopia in all patients. The astigmatic errors were corneal in origin. High myopia was also present in the involved eye and was thought to be axial in all patients. Two patients did have elongated axial lengths demonstrated by ultrasonography. The presence of axial myopia and deep amblyopia may relate to partial occlusion of the involved eye during the early postnatal months. The latter possibility is discussed in light of recent reports of myopia induced by early postnatal occlusion in animals.

Adolescent↗
PubMed1981

Keratoconus and acute hydrops in mentally retarded patients with congenital rubella syndrome.

Four patients with the congenital rubella syndrome had keratoconus and evidence of acute or previous corneal hydrops. All four of the patients vigorously rubbed and poked their eyes. The keratoconus and acute corneal hydrops in these patients probably resulted from chronic traumatizing mannerisms common in other patients with mental retardation and are not specific for the congenital rubella syndrome.

Adolescent↗
PubMed1979

An autopsy study of eye involvement in acute leukemia of childhood.

The eyes of 60 children who had died of acute leukemia between 1968 and 1977 at the Children's Hospital Medical Center have been examined pathologically. An attempt has been made to relate eye findings to the state of the systemic disease at the time of death. Eight of the 60 patients had leukemic retinal infiltrates and all eight had fulminant disease with terminal leukocyte counts over 100,000 per cubic millimeter and a high percentage of "blast" cells. Twenty-six patients (43%) had leukemic infiltration of the choroid that was inapparent clinically. Choroidal involvement was not correlated with high terminal leukocyte counts but was invariably associated with widespread infiltration of other organs. Four patients had optic nerve involvement; all four had coexistent meningeal leukemia. Isolated retinal hemorrhages could not be correlated with other parameters of the leukemic process.

Acute Disease↗