Pigmentary retinal dystrophy associated with pigmentary glaucoma

Abstract

Two young brothers were bilaterally affected by pigmentary glaucoma and extensive symmetrical changes of the retinal pigment epithelium (RPE). Fundus changes consisted in widespread salt-and-pepper RPE mottling and pigment clumping, sparing only the peripapillary and foveal areas. During the course of 4 years, one of the two patients suffered multiple, recurrent, exudative and hemorrhagic detachments of the RPE that involved the midperiphery and posterior pole. No exudative lesions appeared in the brother. The medical history and systemic laboratory tests were noncontributory in both patients. The ERG was normal and the EOG subnormal. Dark adaptation was delayed and showed an elevation of the scotopic threshold. These cases seem to support the hypothesis that the RPE is also involved in the pigmentary dispersion syndrome. An inherited defect could affect the pigment epithelium in both the anterior and posterior segments of the eye. The multifocal subretinal exudative pattern that occurred in one of our patients has not been previously observed in hereditary disorders of the RPE.

Case report: An 8-year-old boy with unusual retinal hyperpigmentation

“…Similar fundal hyperpigmentation has also been noted in Cockayne's syndrome, 3 congenital Rubella, 4 congenital syphilis, 5 Alstrom's disease, 6 and with pigmentary glaucoma. 7 Our patient was different in that there were no other ophthalmic or systemic associations and the fundal hyperpigmentation was more diffuse rather than of the 'salt and pepper' type. This might bear some resemblance to the autosomal dominant dystrophy of retinal pigment epithelium, 8 but we did not get an opportunity to examine any other members of the family.…”

Transgenic mice carrying theH258N mutation in the gene encoding the β-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness

“…Little, is the oldest of all inbred strains of mice [Bailey, 1978], and is commonly used with the B6 strain to generate oocytes (B6D2) for transgenic experiments [Chen et al, 1996;Wakayama et al, 2005]. Although aged DBA mice develop pigmentary glaucoma, retinal function is normal for at least the first 6 months of their life [Bayer et al, 2001;Piccolino et al, 1989;Schuettauf et al, 2004].…”

Retinal involvement in pigment dispersion syndrome

“…Alterations of the RPE have been described in a number of patients with this syndrome [1,2], which also appears to be associated with a higher than normal incidence of peripheral rhegmatogenous degeneration with or without retinal detachment [3][4][5][6]. Chew & Deutman [1] were the first to describe retinal pigmentary changes in a pigment dispersion patient.…”

“…On fluorescein angiography, these alterations, which were restricted to the posterior pole, were found to be distributed in a typical 'fish-net' pattern. Cardillo Piccolino et al [2] described two brothers with pigmentary glaucoma, both of whom presented bilateral degeneration of the peripapillary RPE. One of these subjects experienced recurrent sero-hemorrhagic detachments of the pigment epithelium with the formation of neovascular choroidal membranes.…”