Kenneth G. Noble

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.

Maculopathy Caused by Intra-arterially Administered Cisplatin and Intravenously Administered Carmustine

Eight patients with malignant gliomas were monitored with clinical examinations to study the effects of the combination of intravenous administration of carmustine and infraophthalmic intra-arterial administration of cisplatin on retinal and optic nerve function. Three patients developed a severe macular retinal pigment abnormality in the eye ipsilateral to the intra-arterial infusion. Electrophysiologic studies disclosed no evidence of a generalized disturbance in the photoreceptors, middle retinal layers, or retinal pigment epithelium. In contrast to previous studies involving patients whose visual loss was caused by vaso-occlusive lesions in the retina and optic nerve, our study involved patients with clinically significant maculopathy, that was not vascular in origin and that developed after treatment with carmustine and cisplatin. We suggest that the deficit may result from a localized retinal pigment disturbance in the macula.

Pigmented Paravenous Chorioretinal Atrophy

Six patients (three men and three women, ranging in age from 19 to 65 years) with pigmented paravenous chorioretinal atrophy, a rare disorder of unknown origin, were studied for three- to 21-year periods. The diagnosis was made on the basis of the distinctive fundus appearance of bilateral, symmetrical bone corpuscular pigment accumulation exclusively along the distribution of the retinal veins. Although the fundus abnormalities can be mild or severe, retinal function tests indicated that this is a geographic and not a generalized disorder. Central visual acuities were normal. Follow-up studies showed no evidence of ophthalmoscopic or functional deterioration in five of the patients. In the sixth (Patient 6, the most severely affected), there was a mild progression of the fundus abnormality during the 21-year follow-up period.

Peripapillary pigmentary retinal degeneration.

We studied four patients with peripapillary pigmentary retinal degeneration, an asymptomatic disorder that was probably benign and nonprogressive. The ophthalmoscopic appearance showed a segmental, grayish metallic sheen in association with bone spicule pigmentation, which radiated from the disk along the temporal vessel arcades and joined temporal to the macula. The optic disk, retinal vessels, periphery, and macula were normal in all patients. Visual function tests and fluorescein angiography indicated a segmental disease of the retinal pigment epithelium-photoreceptor complex.

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.

The Golden Tapetal Sheen Reflex in Retinal Disease

A mother and son with dominant cone dystrophy manifested the retinal reflexes seen in Oguchis 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.

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.

Central Areolar Choroidal Dystrophy

Three members of a family with central areolar choroidal dystrophy showed the early and late stages of this disorder. The youngest affected was a 12-year-old girl who exhibited decreased vision, a red-green dyschromatopsia, and mild granularity of the macula with a diffuse foveal reflex. A discrete focal loss of choriocapillaris in the macula was seen on fluorescein angiography. This indicates that choriocapillaris atrophy is an early finding in this disease.

Familial Foveal Retinoschisis Associated by a Rod-Cone Dystrophy

A brother and sister born of a consanguinous marriage had bilateral foveal retinoschisis and a generalized rod-cone dysfunction. This was associated with nyctalopia, hyperopia, minimal vitreous opacities in the sister, a paramacular tapetal sheen reflex, normal retinal vessels, an abnormal electroretinogram, and a normal electro-oculogram in the less affected brother. Foveal retinoschisis is not pathognomonic for x-chromosome-linked juvenile retinoschisis. It may be seen as a manifestation of a macular dystrophy or associated with a generalized tapetoretinal dystrophy.

Hereditary Hemorrhagic Macular Dystrophy

Four members of a family with dominantly inherited macular dystrophy demonstrated the essential features of hereditary hemorrhagic macular dystrophy. They reported decreased visual acuity in the third decade and eventually developed bilateral disease. Fundus evaluations revealed hemorrhagic and exudative maculopathy associated with pigment atrophy, pigment clumping, and eventual glial scar formation. Early stages of the disease manifested a macular subretinal neovascular network. Photocoagulation treatment of subretinal neovascularization was successful in Case 3, unsuccessful in Case 1. Follow-up of these four brothers lasted over a period of two to 12 years. After they reached the cicatricial phase, the size of the lesion and visual symptoms remained stable. Visual function tests in the early and late stages indicated a local or geographic disease. We differentiated this dystrophy from other hereditary causes for subretinal neovascularization. We recommend early obliteration of the subretinal neovascular network with intense photocoagulation because the outcome of untreated hereditary hemorrhagic macular dystrophy is legal blindness.