Cataract surgery in retinitis pigmentosa patients.

From the UCLA Retinitis Pigmentosa Registry, 30 patients with 54 aphakic eyes were studied in a retrospective analysis to evaluate the results of cataract surgery. Patients consisted of 19 men and 11 women, with an age range at the time of cataract surgery from 24 to 75 years (mean 47 years). After surgery all aphakic eyes showed some improvement in visual acuity; 83% of eyes demonstrated improvement in visual acuity of at least two lines on the Snellen chart, and 52% of eyes achieved a visual acuity of 20/50 or better.

Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.

Five pedigrees (including an expanded version of a previously reported pedigree) exhibited typical autosomal dominant retinitis pigmentosa were analysed for linkage of RP to 29 genetic markers. No significant lod scores resulted. The largest lod score is +1.

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 patient's 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 frequency of posterior subcapsular cataract in the hereditary retinal degenerations.

I analyzed the frequency and severity of posterior subcapsular cataracts in 291 patients with various forms of hereditary retinal degeneration, including typical retinitis pigmentosa (rod-cone degeneration), cone-rod degeneration, Usher's syndrome, and choroideremia. The overall frequency of posterior subcapsular cataract was 41%, less than generally thought. Posterior subcapsular cataracts were least common in cone-rod degeneration, and most common in the group with autosomal dominant retinitis pigmentosa.

Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.

Five patients with retinitis pigmentosa (RP) with probable autosomal recessive inheritance have been identified in whom there is relative preservation of retinal pigment epithelium adjacent to and under retinal arterioles despite a panretinal degenerative process. All the patients were hypermetropic, though patients with RP tend to be myopic. This implies that there is a factor associated with retinal arterioles which locally retards the RP process in these patients.

Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1.

A genetic linkage study, performed on a large family with autosomal dominant retinitis pigmentosa (RP), demonstrated that the RP gene may be linked to the Rh locus, known to be on the short arm of human chromosome 1. Linkage studies on RP along with other studies, can help to more accurately classify these disease entities. Localizing the RP gene locus has the potential for allowing the early diagnosis of individuals at risk.

Traumatic pigmentary retinopathy.

A 56-year-old man with unilateral pigmentary retinopathy had sustained an ocular injury ten years previously. Pathologic examination of the enucleated eye disclosed a spicular pigmentary pattern of the retina in the temporal and inferior sectors. The macular region showed only selective loss of photoreceptor cells and epiretinal membrane formation.

Telangiectasia and optic atrophy in cone-rod degenerations.

The diagnosis of cone-rod dysfunction is made with the electroretinogram (ERG). Characteristically, the photopic ERG is worse than the scotopic ERG, and both are abnormal. Of a larger group of patients with retinal dystrophy, 20 cases of cone-rod dysfunction were identified.

HLA typing in retinitis pigmentosa.

HLA serological typing was performed on 173 patients with retinitis pigmentosa (RP) of all hereditary types. No significant difference was found in the frequency of any HLA (A, B, C) antigen, when comparing autosomal dominant and recessive RP patients with a control population.

Myelinated retinal nerve fibers.

In a series of 3,968 consecutive autopsies, myelinated nerve fibers of the retina were presented in 39 (0.98%) cases and bilateral in three (7.7%) affected cases; thus, 42 (0.

Myelinated retinal nerve fibers associated with ipsilateral myopia, amblyopia, and strabismus.

Four patients had extensive unilateral myelinated nerve fibers associated with ipsilateral myopia, amblyopia, and strabismus. Their profound visual impairment, exotropia, and the early age onset of symptoms indicated that the amblyopia may have been organically caused. Prognosis is poor for even partial correction but good results have been obtained with intense therapy that includes full correction of the refractive error in each eye and extraocular muscle surgery if cosmetically necessary.

Congenital perforated cornea in Peter's anomaly.

A male infant was born with a perforated left cornea associated with bilateral central corneal defects caused by mesodermal dysgenesis. Smears and culture of the perforated cornea revealed no infectious agents, and there was no evidence of systemic infection in the child or mother at birth. Histopathologic material excised during keratoplasty was compatible with persistent hyperplastic vitreous, possibly causing a forward displacement of the lens/iris diaphragm with pressure on the corneal endothelium and possible dissolution of the cornea leading to perforation.

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.

Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.

A linkage analysis is reported for three branches of a single family segregating for autosomal dominant retinitis pigmentosa. A statistically significant lod score of 3.9 is obtained for the RP locus and AMY2 at a recombination frequency of 1%.