Atypical pigmentary glaucoma and pigment dispersion syndrome in a black family

C. J. Bock, K. F. Damji, D. Tallett, M. B. Shields, R. R. Allingham

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Purpose. To describe a family with an atypical form of pigmentary glaucoma (PG) and pigment dispersion syndrome (PDS). Methods. The proband is an elderly black female with PG diagnosed in 1973. As part of an ongoing genetic linkage study in glaucoma, her three surviving sibs were examined. This included manifest refraction, applanation tonometry, slit lamp biomicroscopy, gonioscopy, optic nerve exam, and automated perimetry. Results. All sibs were female, aged 66-83, had hyperopic refraction (mean +2.9 D, range +1.50 - +5.00 D), Krukenberg spindles, and moderate to heavy (2-4+, scale 0-4+) pigmentation of the trabecular meshwork. None had iris transillumination defects. A diagnosis of PG has been made in 3 of the sisters based on elevated IOP, glaucomatous optic neuropathy (GON) and visual field defects (VFD). The fourth sister has been diagnosed with PDS, and has elevated IOP (23 mmHg) but no evidence of GON or VFD. No other family members have a history of glaucoma. Conclusions. An unusual form of PG/PDS characterized by older age, black race, preponderance of female gender, hyperopia, Krukenberg spindles, trabecular meshwork hyperpigmentation and without iris transillumination defects has been described (Semple HC and Ball SF. AJO 109:518-22, 1990). Our study reports, for the first time, a familial cluster of patients with this syndrome, suggesting a genetic etiology. We are ascertaining the pedigree to investigate a genetic mode of inheritance.

Original languageEnglish
Pages (from-to)S34
JournalInvestigative Ophthalmology and Visual Science
Issue number3
Publication statusPublished - 15 Feb 1996
Externally publishedYes


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