Small bowel resection with vitamin E deficiency and progressive spinocerebellar syndrome.

A 27-year-old woman who had undergone extensive small bowel resection at age 14 months developed kyphoscoliosis, ocular palsies, constricted visual fields, retinitis pigmentosa, progressive ataxia, muscular weakness, nearly absent vibration and impaired position sense, areflexia, extensor plantar responses, and macrocytic anemia. Her condition closely resembled Bassen-Kornzweig disease, but lipoprotein electrophoresis was normal. Mild fat malabsorption, lactic acidosis, and severe deficiency of vitamins A and E and carotene were documented. Serum B12 and folic acid levels were normal. During vitamin A and E therapy sufficient to elevate serum levels to the normal range, there was improvement of visual fields and visual acuity in dim light, lactic acidosis, and red cell volume. Progression of symptoms was halted during vitamin replacement therapy, and her gait improved. This syndrome is the human counterpart to vitamin E deficiency in experimental animals.

A telemeter without refractive optics.

A conic tube may be adjusted by varying the distal diameter and by using binocular vision for measuring distances. This device appears to be the earliest telemeter in the world. It is mentioned in the Talmud as being used in the first century A.D.

Yellow mercuric oxide: a treatment of choice for phthiriasis palpebrarum.

Thirty-five patients presenting with phthiriasis palpebrarum were all treated with a regimen of 1% yellow oxide of mercury ointment four times daily for 14 days. At the conclusion of treatment there was complete resolution of the signs and symptoms of the disease. No side effects due to the treatment were reported or detected. We have shown that 1% mercuric oxide ointment is both a safe and effective treatment for phthiriasis palpebrarum. We recommend it as the treatment of choice.

Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features.

AIM: To evaluate the paradoxical pupillary constriction in darkness in patients with Pingelapese achromatopsia (PA), and to describe a connection between this phenomenon and the clinical features. METHODS: 27 patients with PA were examined. All underwent a full ophthalmic examination which included Snellen visual acuity and ophthalmoscopy. Colour vision examination was performed with Ishihara pseudoisochromatic plates and also with a colour plate consisting of five basic colours (red, green, purple, yellow, and orange). Paradoxical pupillary response was examined and documented with a special infrared video camera. Pupils' images were analysed using the Scion Image program and the ratio of pupil size in darkness to its size in light was calculated and recorded. RESULTS: Mean visual acuity was 20/400 (range 20/80-20/800). Colour vision examination showed a mean of 3.2 (SD 1.5) (range 1-5) of Ishihara colour plates, and 0.5 (0.75) (0-3) of basic colour plates. 23 patients (85%) had paradoxical pupillary constriction in darkness. Mean dark/light ratio of pupillary area was 0.86 (range 0.5-1.6). In patients with marked paradoxical pupillary constriction there was a significant correlation of visual acuity and Ishihara score. CONCLUSIONS: Clinical manifestations of achromatopsia include total colour blindness, low visual acuity (mean of 20/400), horizontal pendular or rotatory nystagmus, and photophobia. Most patients have paradoxical pupillary constriction in darkness. When this response is brisk it seems to correlate with lower visual acuity and lower Ishihara score.

Isolated foveal hypoplasia.

Fifteen patients presented with foveal hypoplasia as an isolated ocular finding. The characteristic findings associated with this entity are a visual acuity of 6/21 or worse, nystagmus, and a typical ophthalmoscopic appearance of the macular area, including absent or abnormal maculofoveal reflexes, unclear definition of the maculofoveal area, and capillaries running abnormally close to the presumed macular area, some of them even crossing the horizontal meridian. Fluorescein angiography revealed a variable and incomplete filtering effect of the choroidal fluorescence in the macular area, suggesting abnormalities in the amount and distribution of macular pigments. The fundal findings of isolated foveal hypoplasia, although typical, are very subtle and often difficult to detect, especially because of the accompanying nystagmus. For this reason we suspect that foveal hypoplasia may be more common than is generally believed.

Glaucoma in siblings with Morquio syndrome.

Two cases of association between the Morquio Syndrome and glaucoma in one family are described. Possible role of Mucopolysaccharides acting in the anterior chamber angle is discussed.

Visual thresholds in aphakia and pseudophakia.

Following extracapsular senile cataract extraction, visual thresholds were measured in 15 aphakic eyes corrected with glasses and compared with an appropriately matched group of 23 eyes with poly (methyl methacrylate) posterior chamber lenses. All subjects were six months to three years postoperative and had 20/30 or better visual acuity. The paramacular dark adapted threshold, the foveal luminance threshold, and the glare effect on both thresholds were not significantly different in the two groups despite the optical differences between aphakic and pseudophakic correction.

Sector retinitis pigmentosa. Electrophysiological and psychophysical study of the visual system.

Combined clinical, psychophysical and electrophysiological examinations of the visual function were performed in two patients affected by sector retinitis pigmentosa. Psychophysical dark adaptation measurements, the electroretinogram (ERG) and the electro-oculogram (EOG) revealed that a larger area of the neural retina and pigment epithelium were pathologically involved than revealed by ophthalmoscopy and visual field. Five years of observation showed a stationary retinal defect in one patient, while in the other a slight clinical but a marked electroretinographical deterioration was found over a period of twelve years. However, visual acuity and the visually evoked potential (VEP) remained normal. In spite of subnormal ERG amplitudes, the photopic and scotopic peak latencies were normal in both cases. In the ophthalmoscopically normal relatives of one patient slight dark adaptation impairments, as well as EOG and ERG disturbances, were detected.

A table-top fluorescein angiogram viewer.

An electric table lamp covered by a wooden plate with an opening for the fluorescein angiographic film frame can be used in conjunction with a +20-diopter lens for good quality magnification of fluorescein angiograms.