Jerome T. Pearlman

Progressive nature of pigmented paravenous retinochoroidal atrophy.

A 30-year-old man with pigmented paravenous chorioretinal atrophy showed, within a relatively short time, changes that documented the progressive nature of this disease. These changes included: further constriction of peripheral visual fields; more extensive and frequently confluent areas of retinochoroidal atrophy; a scalloped appearance of lesions resembling posterior gyrate atrophy; peripheral pigment clumping; and the presence of localized atrophic areas with crystal deposition in the peripheral retina.

Pigmented Paravenous Retinochoroidal Atrophy

Three male patients had paravenous pigmented retinochoroidal atrophy. Extensive retinal function tests showed characteristic retinal pigment epithelial abnormalities on fluorescein angiography, loss of peripheral visual field, diminution of the electroretinographic b-wave, and elevated rod threshold on dark adaptometry. The disease appears to be more progressive than previously indicated, and in late stages, may cause legal blindness through involvement of the posterior pole. No treatment is known.

Emotional response and management of visually handicapped patients

Emotional stress is known to accompany visual problems. This fact is apparent in patients with real or threatened acute loss of vision. Patients usually respond to a loss of vision in one of three ways: by acceptance, by denial, or by depression—with or without concomitant anxiety. A progression through these three patterns of response which varies in its pace and qualitative characteristics can be—but is rarely—seen by the physician. The response of any given patient can almost be predicted by the patients previous response pattern to emotional stress. Acceptance and denial are the two most frequently encountered patterns of response. Fortunately, they are the healthiest responses and require the least attention, usually only by the ophthalmologist and his ancillary personnel. Depression, although the least common response to partial visual loss, may be lethal. A patient who responds to visual loss with depression requires at least a psychiatric consultation to aid the ophthalmologist in the management of the patient. In severe depression, the patient will probably require some type of psychiatric therapy, such as short- or long-term psychotherapy, chemotherapy, or some combination thereof.

RETINITIS PIGMENTOSA: AN IMPROVED CLINICAL APPROACH

Primary pigmentary degeneration of the retina, more commonly called ‘retinitis pigmentosa’ has been recognized as a clinical entity since 1855. Its discovery came within a few years after the invention of the ophthalmoscope by Helmholtz in 1851. Since that time we have come to recognize RP as a group of similar-appearing clinical disorders characterized by night blindness, tunnel vision, retinal arteriolar narrowing, waxy pallor of the disc, and characteristic mid-peripheral and peripheral pigmentary deposits within the neurosensory retina. With the exception of one exceedingly rare form of the disease (Bassen-Kornzweig Syndrome), there is no known cure for any of the other forms of RP, although many different therapeutic approaches have been made, some of them bordering on the fantastic.

ASSESSING THE RISK OF RETINITIS PIGMENTOSA WITH AGE-OF-ONSET DATA

Early characteristic electrophysiologic and ophthalmoscopic changes may help predict the development of retinitis pigmentosa. Until recently, if these were absent or equivocal, the ophthalmologist had to rely on the family pattern of transmission and simple Mendelian genetic methods to calculate the patients risk of manifesting the disease. We used data on age of onset of subjective night blindness in 229 patients with retinitis pigmentosa (189 with autosomal recessive disease, 27 with autosomal dominant disease, and 13 with X-chromosome-linked disease) with Bayesian methods of probability calculation to predict the risk of retinitis pigmentosa development in a given patient more accurately than is possible with simple Mendelian methods. The risk for one subject used as an example was reduced from 50% to 12.9%.

Fundus Flavimaculatus associated with Polycystic Kidney Disease: another Oculo-Renal Disorder?

A 47 year old woman was referred by her internist because of progressive bilateral visual loss. The patient’s family history was significant in that her father died in his 40s of kidney disease, and the patient had one male and two female cousins who died of kidney disease. Her own long-standing renal disease was first clinically recognized in 1950, when she underwent a right nephrectomy for polycystic disease. She did reasonably well until 1967, when she developed progressive renal failure. In November, 1970, she underwent a cadaveric renal transplant, which was subsequently rejected, and had to be surgically removed later that same month. In March, 1971, the patient received her second cadaveric renal transplant, which functioned well until early 1973. From the time of her second kidney transplant, she had received a variety of medications, including azathioprine (150 mg/day), prednisone (20–80 mg/day), INH (300 mg/day), cycloheptadine hydrochloride (60 mg/day), chlorpheniramine maleate, and ascorbic acid. The patient was hypertensive both before and after her kidney transplant. She was maintained on varying doses of furosemide and methyldopa.